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{
"resourceType": "ValueSet",
"id": "eHDSIRareDisease-8.1.0",
"url": "http://terminology.ehdsi.eu/ValueSet/eHDSIRareDisease",
"identifier": [
{
"system": "urn:ietf:rfc:3986",
"value": "urn:oid:1.3.6.1.4.1.12559.11.10.1.3.1.42.63"
}
],
"version": "0.2.0",
"name": "eHDSIRareDisease",
"title": "eHDSI Rare Disease",
"status": "active",
"experimental": false,
"date": "2025-12-23T10:21:17+00:00",
"publisher": "HL7 Europe",
"contact": [
{
"name": "HL7 Europe",
"telecom": [
{
"system": "url",
"value": "http://hl7europe.org"
}
]
}
],
"description": "The Value Set is used to describe the problems and medication reasons.",
"compose": {
"include": [
{
"system": "https://www.orpha.net",
"concept": [
{
"code": "5",
"display": "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency"
},
{
"code": "6",
"display": "3-methylcrotonyl-CoA carboxylase deficiency"
},
{
"code": "7",
"display": "3C syndrome"
},
{
"code": "8",
"display": "47,XYY syndrome"
},
{
"code": "9",
"display": "Tetrasomy X"
},
{
"code": "10",
"display": "48,XXYY syndrome"
},
{
"code": "11",
"display": "Pentasomy X"
},
{
"code": "13",
"display": "6-pyruvoyl-tetrahydropterin synthase deficiency"
},
{
"code": "14",
"display": "Abetalipoproteinemia"
},
{
"code": "15",
"display": "Achondroplasia"
},
{
"code": "16",
"display": "Blue cone monochromatism"
},
{
"code": "17",
"display": "Fatal infantile lactic acidosis with methylmalonic aciduria"
},
{
"code": "18",
"display": "Distal renal tubular acidosis"
},
{
"code": "20",
"display": "3-hydroxy-3-methylglutaric aciduria"
},
{
"code": "22",
"display": "Succinic semialdehyde dehydrogenase deficiency"
},
{
"code": "23",
"display": "Argininosuccinic aciduria"
},
{
"code": "24",
"display": "Fumaric aciduria"
},
{
"code": "25",
"display": "Glutaryl-CoA dehydrogenase deficiency"
},
{
"code": "26",
"display": "Methylmalonic acidemia with homocystinuria"
},
{
"code": "27",
"display": "Vitamin B12-unresponsive methylmalonic acidemia"
},
{
"code": "28",
"display": "Vitamin B12-responsive methylmalonic acidemia"
},
{
"code": "29",
"display": "Mevalonic aciduria"
},
{
"code": "30",
"display": "Hereditary orotic aciduria"
},
{
"code": "31",
"display": "Oxoglutaric aciduria"
},
{
"code": "32",
"display": "Glutathione synthetase deficiency"
},
{
"code": "33",
"display": "Isovaleric acidemia"
},
{
"code": "35",
"display": "Propionic acidemia"
},
{
"code": "36",
"display": "Acrocallosal syndrome"
},
{
"code": "37",
"display": "Acrodermatitis enteropathica"
},
{
"code": "38",
"display": "Acrokeratoelastoidosis of Costa"
},
{
"code": "39",
"display": "Acromelanosis"
},
{
"code": "40",
"display": "Acromesomelic dysplasia, Maroteaux type"
},
{
"code": "41",
"display": "Dyschromatosis symmetrica hereditaria"
},
{
"code": "42",
"display": "Medium chain acyl-CoA dehydrogenase deficiency"
},
{
"code": "43",
"display": "X-linked adrenoleukodystrophy"
},
{
"code": "44",
"display": "Neonatal adrenoleukodystrophy"
},
{
"code": "45",
"display": "Adenosine monophosphate deaminase deficiency"
},
{
"code": "46",
"display": "Adenylosuccinate lyase deficiency"
},
{
"code": "47",
"display": "X-linked agammaglobulinemia"
},
{
"code": "48",
"display": "Congenital bilateral absence of vas deferens"
},
{
"code": "49",
"display": "Penile agenesis"
},
{
"code": "50",
"display": "Aicardi syndrome"
},
{
"code": "51",
"display": "Aicardi-Goutières syndrome"
},
{
"code": "52",
"display": "Alagille syndrome"
},
{
"code": "53",
"display": "Albers-Schönberg osteopetrosis"
},
{
"code": "54",
"display": "X-linked recessive ocular albinism"
},
{
"code": "56",
"display": "Alkaptonuria"
},
{
"code": "57",
"display": "Glycogen storage disease due to aldolase A deficiency"
},
{
"code": "58",
"display": "Alexander disease"
},
{
"code": "59",
"display": "Allan-Herndon-Dudley syndrome"
},
{
"code": "60",
"display": "Alpha-1-antitrypsin deficiency"
},
{
"code": "61",
"display": "Alpha-mannosidosis"
},
{
"code": "62",
"display": "Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3"
},
{
"code": "63",
"display": "Alport syndrome"
},
{
"code": "64",
"display": "Alström syndrome"
},
{
"code": "65",
"display": "Leber congenital amaurosis"
},
{
"code": "67",
"display": "Amoebiasis due to Entamoeba histolytica"
},
{
"code": "68",
"display": "Amoebiasis due to free-living amoebae"
},
{
"code": "70",
"display": "Proximal spinal muscular atrophy"
},
{
"code": "71",
"display": "Chylomicron retention disease"
},
{
"code": "72",
"display": "Angelman syndrome"
},
{
"code": "73",
"display": "Gorham-Stout disease"
},
{
"code": "74",
"display": "Angiostrongyliasis"
},
{
"code": "76",
"display": "Strongyloidiasis"
},
{
"code": "78",
"display": "Ankylostomiasis"
},
{
"code": "79",
"display": "Congenital alpha2-antiplasmin deficiency"
},
{
"code": "80",
"display": "Antiphospholipid syndrome"
},
{
"code": "81",
"display": "Antisynthetase syndrome"
},
{
"code": "82",
"display": "Hereditary thrombophilia due to congenital antithrombin deficiency"
},
{
"code": "83",
"display": "Antley-Bixler syndrome"
},
{
"code": "84",
"display": "Fanconi anemia"
},
{
"code": "86",
"display": "Familial abdominal aortic aneurysm"
},
{
"code": "87",
"display": "Apert syndrome"
},
{
"code": "88",
"display": "Idiopathic aplastic anemia"
},
{
"code": "90",
"display": "Argininemia"
},
{
"code": "91",
"display": "Aromatase deficiency"
},
{
"code": "93",
"display": "Aspartylglucosaminuria"
},
{
"code": "95",
"display": "Friedreich ataxia"
},
{
"code": "96",
"display": "Ataxia with vitamin E deficiency"
},
{
"code": "97",
"display": "Familial paroxysmal ataxia"
},
{
"code": "98",
"display": "Autosomal recessive spastic ataxia of Charlevoix-Saguenay"
},
{
"code": "100",
"display": "Ataxia-telangiectasia"
},
{
"code": "101",
"display": "Dentatorubral pallidoluysian atrophy"
},
{
"code": "102",
"display": "Multiple system atrophy"
},
{
"code": "104",
"display": "Leber hereditary optic neuropathy"
},
{
"code": "105",
"display": "Atresia of urethra"
},
{
"code": "107",
"display": "BOR syndrome"
},
{
"code": "108",
"display": "Babesiosis"
},
{
"code": "109",
"display": "Bannayan-Riley-Ruvalcaba syndrome"
},
{
"code": "110",
"display": "Bardet-Biedl syndrome"
},
{
"code": "111",
"display": "Barth syndrome"
},
{
"code": "112",
"display": "Bartter syndrome"
},
{
"code": "113",
"display": "Bazex-Dupré-Christol syndrome"
},
{
"code": "114",
"display": "Auriculoosteodysplasia"
},
{
"code": "115",
"display": "Congenital contractural arachnodactyly"
},
{
"code": "116",
"display": "Beckwith-Wiedemann syndrome"
},
{
"code": "117",
"display": "Behçet disease"
},
{
"code": "118",
"display": "Beta-mannosidosis"
},
{
"code": "119",
"display": "Beta-sarcoglycan-related limb-girdle muscular dystrophy R4"
},
{
"code": "122",
"display": "Birt-Hogg-Dubé syndrome"
},
{
"code": "123",
"display": "Björnstad syndrome"
},
{
"code": "124",
"display": "Diamond-Blackfan anemia"
},
{
"code": "125",
"display": "Bloom syndrome"
},
{
"code": "126",
"display": "Blepharophimosis-ptosis-epicanthus inversus syndrome"
},
{
"code": "127",
"display": "Borjeson-Forssman-Lehmann syndrome"
},
{
"code": "128",
"display": "Diphyllobothriasis"
},
{
"code": "129",
"display": "Pseudopelade of Brocq"
},
{
"code": "130",
"display": "Brugada syndrome"
},
{
"code": "131",
"display": "Budd-Chiari syndrome"
},
{
"code": "132",
"display": "Hereditary butyrylcholinesterase deficiency"
},
{
"code": "133",
"display": "Chronic beryllium disease"
},
{
"code": "134",
"display": "Beta-ketothiolase deficiency"
},
{
"code": "135",
"display": "CACH syndrome"
},
{
"code": "136",
"display": "Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy"
},
{
"code": "138",
"display": "CHARGE syndrome"
},
{
"code": "139",
"display": "CHILD syndrome"
},
{
"code": "140",
"display": "Campomelic dysplasia"
},
{
"code": "141",
"display": "Canavan disease"
},
{
"code": "142",
"display": "Anaplastic thyroid carcinoma"
},
{
"code": "143",
"display": "Parathyroid carcinoma"
},
{
"code": "144",
"display": "Lynch syndrome"
},
{
"code": "145",
"display": "Hereditary breast and/or ovarian cancer syndrome"
},
{
"code": "146",
"display": "Differentiated thyroid carcinoma"
},
{
"code": "147",
"display": "Carbamoyl-phosphate synthetase 1 deficiency"
},
{
"code": "150",
"display": "Nasopharyngeal carcinoma"
},
{
"code": "154",
"display": "Familial isolated dilated cardiomyopathy"
},
{
"code": "156",
"display": "Carnitine palmitoyl transferase 1A deficiency"
},
{
"code": "157",
"display": "Carnitine palmitoyltransferase II deficiency"
},
{
"code": "158",
"display": "Systemic primary carnitine deficiency"
},
{
"code": "159",
"display": "Carnitine-acylcarnitine translocase deficiency"
},
{
"code": "160",
"display": "Castleman disease"
},
{
"code": "162",
"display": "Congenital cataract-anterior segment dysgenesis syndrome"
},
{
"code": "163",
"display": "Hereditary hyperferritinemia-cataract syndrome"
},
{
"code": "167",
"display": "Chédiak-Higashi syndrome"
},
{
"code": "168",
"display": "Loose anagen syndrome"
},
{
"code": "169",
"display": "Ringed hair disease"
},
{
"code": "170",
"display": "Woolly hair"
},
{
"code": "171",
"display": "Primary sclerosing cholangitis"
},
{
"code": "172",
"display": "Progressive familial intrahepatic cholestasis"
},
{
"code": "173",
"display": "Cholera"
},
{
"code": "174",
"display": "Metaphyseal chondrodysplasia, Schmid type"
},
{
"code": "175",
"display": "Cartilage-hair hypoplasia"
},
{
"code": "177",
"display": "Rhizomelic chondrodysplasia punctata"
},
{
"code": "178",
"display": "Chordoma"
},
{
"code": "179",
"display": "Birdshot chorioretinopathy"
},
{
"code": "180",
"display": "Choroideremia"
},
{
"code": "181",
"display": "X-linked hypohidrotic ectodermal dysplasia"
},
{
"code": "182",
"display": "Chromomycosis"
},
{
"code": "183",
"display": "Eosinophilic granulomatosis with polyangiitis"
},
{
"code": "184",
"display": "Cherubism"
},
{
"code": "185",
"display": "Scimitar syndrome"
},
{
"code": "186",
"display": "Primary biliary cholangitis"
},
{
"code": "188",
"display": "Systemic capillary leak syndrome"
},
{
"code": "189",
"display": "Hidrotic ectodermal dysplasia"
},
{
"code": "190",
"display": "Coats disease"
},
{
"code": "191",
"display": "Cockayne syndrome"
},
{
"code": "192",
"display": "Coffin-Lowry syndrome"
},
{
"code": "193",
"display": "Cohen syndrome"
},
{
"code": "195",
"display": "Cat-eye syndrome"
},
{
"code": "198",
"display": "Occipital horn syndrome"
},
{
"code": "199",
"display": "Cornelia de Lange syndrome"
},
{
"code": "200",
"display": "Isolated corpus callosum agenesis"
},
{
"code": "201",
"display": "Cowden syndrome"
},
{
"code": "202",
"display": "Crandall syndrome"
},
{
"code": "204",
"display": "Sporadic Creutzfeldt-Jakob disease"
},
{
"code": "205",
"display": "Crigler-Najjar syndrome"
},
{
"code": "207",
"display": "Crouzon syndrome"
},
{
"code": "210",
"display": "Cyclosporiasis"
},
{
"code": "211",
"display": "Familial cylindromatosis"
},
{
"code": "212",
"display": "Cystathioninuria"
},
{
"code": "213",
"display": "Cystinosis"
},
{
"code": "214",
"display": "Cystinuria"
},
{
"code": "215",
"display": "Congenital stationary night blindness"
},
{
"code": "217",
"display": "Isolated Dandy-Walker malformation"
},
{
"code": "218",
"display": "Darier disease"
},
{
"code": "219",
"display": "Delta-sarcoglycan-related limb-girdle muscular dystrophy R6"
},
{
"code": "220",
"display": "Denys-Drash syndrome"
},
{
"code": "221",
"display": "Dermatomyositis"
},
{
"code": "222",
"display": "Erosive pustular dermatosis of the scalp"
},
{
"code": "223",
"display": "Arginine vasopressin resistance"
},
{
"code": "226",
"display": "Dihydropteridine reductase deficiency"
},
{
"code": "227",
"display": "Diphallia"
},
{
"code": "229",
"display": "Familial aortic dissection"
},
{
"code": "230",
"display": "Dopamine beta-hydroxylase deficiency"
},
{
"code": "231",
"display": "Dracunculiasis"
},
{
"code": "232",
"display": "Sickle cell anemia"
},
{
"code": "233",
"display": "Duane retraction syndrome"
},
{
"code": "234",
"display": "Dubin-Johnson syndrome"
},
{
"code": "235",
"display": "Dubowitz syndrome"
},
{
"code": "236",
"display": "Trisomy 9p"
},
{
"code": "237",
"display": "Duplication of urethra"
},
{
"code": "239",
"display": "Dyggve-Melchior-Clausen disease"
},
{
"code": "240",
"display": "Léri-Weill dyschondrosteosis"
},
{
"code": "241",
"display": "Dyschromatosis universalis hereditaria"
},
{
"code": "242",
"display": "46,XY complete gonadal dysgenesis"
},
{
"code": "243",
"display": "46,XX gonadal dysgenesis"
},
{
"code": "244",
"display": "Primary ciliary dyskinesia"
},
{
"code": "245",
"display": "Nager syndrome"
},
{
"code": "246",
"display": "Postaxial acrofacial dysostosis"
},
{
"code": "248",
"display": "Autosomal recessive hypohidrotic ectodermal dysplasia"
},
{
"code": "249",
"display": "Fibrous dysplasia of bone"
},
{
"code": "256",
"display": "Early-onset generalized limb-onset dystonia"
},
{
"code": "257",
"display": "Epidermolysis bullosa simplex with muscular dystrophy"
},
{
"code": "258",
"display": "Laminin subunit alpha 2-related congenital muscular dystrophy"
},
{
"code": "261",
"display": "Emery-Dreifuss muscular dystrophy"
},
{
"code": "266",
"display": "Autosomal dominant limb-girdle muscular dystrophy type 1A"
},
{
"code": "267",
"display": "Calpain-3-related limb-girdle muscular dystrophy R1"
},
{
"code": "268",
"display": "Dysferlin-related limb-girdle muscular dystrophy R2"
},
{
"code": "269",
"display": "Facioscapulohumeral dystrophy"
},
{
"code": "270",
"display": "Oculopharyngeal muscular dystrophy"
},
{
"code": "272",
"display": "Congenital muscular dystrophy, Fukuyama type"
},
{
"code": "273",
"display": "Steinert myotonic dystrophy"
},
{
"code": "274",
"display": "Bernard-Soulier syndrome"
},
{
"code": "275",
"display": "Severe combined immunodeficiency due to DCLRE1C deficiency"
},
{
"code": "276",
"display": "T-B+ severe combined immunodeficiency due to gamma chain deficiency"
},
{
"code": "277",
"display": "Severe combined immunodeficiency due to adenosine deaminase deficiency"
},
{
"code": "280",
"display": "Wolf-Hirschhorn syndrome"
},
{
"code": "281",
"display": "Monosomy 5p"
},
{
"code": "283",
"display": "Demodicidosis"
},
{
"code": "284",
"display": "Alveolar echinococcosis"
},
{
"code": "285",
"display": "Hypermobile Ehlers-Danlos syndrome"
},
{
"code": "286",
"display": "Vascular Ehlers-Danlos syndrome"
},
{
"code": "287",
"display": "Classical Ehlers-Danlos syndrome"
},
{
"code": "288",
"display": "Hereditary elliptocytosis"
},
{
"code": "289",
"display": "Ellis Van Creveld syndrome"
},
{
"code": "290",
"display": "Congenital rubella syndrome"
},
{
"code": "291",
"display": "Congenital varicella syndrome"
},
{
"code": "292",
"display": "Congenital enterovirus infection"
},
{
"code": "293",
"display": "Congenital herpes simplex virus infection"
},
{
"code": "294",
"display": "Fetal cytomegalovirus syndrome"
},
{
"code": "295",
"display": "Fetal parvovirus syndrome"
},
{
"code": "296",
"display": "Ollier disease"
},
{
"code": "297",
"display": "Tick-borne encephalitis"
},
{
"code": "298",
"display": "Mitochondrial neurogastrointestinal encephalomyopathy"
},
{
"code": "300",
"display": "Bifunctional enzyme deficiency"
},
{
"code": "302",
"display": "Inherited epidermodysplasia verruciformis"
},
{
"code": "306",
"display": "Benign familial infantile epilepsy"
},
{
"code": "307",
"display": "Juvenile myoclonic epilepsy"
},
{
"code": "308",
"display": "Progressive myoclonic epilepsy type 1"
},
{
"code": "312",
"display": "Autosomal dominant epidermolytic ichthyosis"
},
{
"code": "313",
"display": "Lamellar ichthyosis"
},
{
"code": "314",
"display": "Erythroderma desquamativum"
},
{
"code": "315",
"display": "Erythrokeratoderma ''en cocardes''"
},
{
"code": "316",
"display": "Progressive symmetric erythrokeratodermia"
},
{
"code": "317",
"display": "Erythrokeratodermia variabilis"
},
{
"code": "318",
"display": "Acute erythroid leukemia"
},
{
"code": "319",
"display": "Skeletal Ewing sarcoma"
},
{
"code": "320",
"display": "Apparent mineralocorticoid excess"
},
{
"code": "321",
"display": "Multiple osteochondromas"
},
{
"code": "322",
"display": "Exstrophy-epispadias complex"
},
{
"code": "324",
"display": "Fabry disease"
},
{
"code": "325",
"display": "Congenital factor II deficiency"
},
{
"code": "326",
"display": "Congenital factor V deficiency"
},
{
"code": "327",
"display": "Congenital factor VII deficiency"
},
{
"code": "328",
"display": "Congenital factor X deficiency"
},
{
"code": "329",
"display": "Congenital factor XI deficiency"
},
{
"code": "330",
"display": "Congenital factor XII deficiency"
},
{
"code": "331",
"display": "Congenital factor XIII deficiency"
},
{
"code": "332",
"display": "Congenital intrinsic factor deficiency"
},
{
"code": "333",
"display": "Farber disease"
},
{
"code": "334",
"display": "Familial atrial fibrillation"
},
{
"code": "335",
"display": "Congenital fibrinogen deficiency"
},
{
"code": "337",
"display": "Fibrodysplasia ossificans progressiva"
},
{
"code": "340",
"display": "Hemorrhagic fever-renal syndrome"
},
{
"code": "342",
"display": "Familial Mediterranean fever"
},
{
"code": "343",
"display": "Hyperimmunoglobulinemia D with periodic fever"
},
{
"code": "345",
"display": "Dissecting cellulitis of the scalp"
},
{
"code": "346",
"display": "Quinquaud folliculitis decalvans"
},
{
"code": "347",
"display": "Frasier syndrome"
},
{
"code": "348",
"display": "Fructose-1,6-bisphosphatase deficiency"
},
{
"code": "349",
"display": "Fucosidosis"
},
{
"code": "351",
"display": "Galactosialidosis"
},
{
"code": "353",
"display": "Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5"
},
{
"code": "354",
"display": "GM1 gangliosidosis"
},
{
"code": "355",
"display": "Gaucher disease"
},
{
"code": "356",
"display": "Gerstmann-Straussler-Scheinker syndrome"
},
{
"code": "358",
"display": "Gitelman syndrome"
},
{
"code": "360",
"display": "Glioblastoma"
},
{
"code": "361",
"display": "Familial glucocorticoid deficiency"
},
{
"code": "364",
"display": "Glycogen storage disease due to glucose-6-phosphatase deficiency"
},
{
"code": "365",
"display": "Glycogen storage disease due to acid maltase deficiency"
},
{
"code": "366",
"display": "Glycogen storage disease due to glycogen debranching enzyme deficiency"
},
{
"code": "367",
"display": "Glycogen storage disease due to glycogen branching enzyme deficiency"
},
{
"code": "368",
"display": "Glycogen storage disease due to muscle glycogen phosphorylase deficiency"
},
{
"code": "369",
"display": "Glycogen storage disease due to liver glycogen phosphorylase deficiency"
},
{
"code": "371",
"display": "Glycogen storage disease due to muscle phosphofructokinase deficiency"
},
{
"code": "373",
"display": "Simpson-Golabi-Behmel syndrome"
},
{
"code": "375",
"display": "Anti-glomerular basement membrane disease"
},
{
"code": "376",
"display": "Gordon syndrome"
},
{
"code": "377",
"display": "Gorlin syndrome"
},
{
"code": "379",
"display": "Chronic granulomatous disease"
},
{
"code": "380",
"display": "Greig cephalopolysyndactyly syndrome"
},
{
"code": "381",
"display": "Griscelli syndrome"
},
{
"code": "382",
"display": "Guanidinoacetate methyltransferase deficiency"
},
{
"code": "384",
"display": "Huriez syndrome"
},
{
"code": "386",
"display": "Hepatic cystic hamartoma"
},
{
"code": "388",
"display": "Hirschsprung disease"
},
{
"code": "389",
"display": "Langerhans cell histiocytosis"
},
{
"code": "390",
"display": "Histoplasmosis"
},
{
"code": "391",
"display": "Classic Hodgkin lymphoma"
},
{
"code": "392",
"display": "Holt-Oram syndrome"
},
{
"code": "393",
"display": "46,XX testicular difference of sex development"
},
{
"code": "394",
"display": "Homocystinuria due to cystathionine beta-synthase deficiency"
},
{
"code": "395",
"display": "Homocystinuria due to methylene tetrahydrofolate reductase deficiency"
},
{
"code": "396",
"display": "Chronic hiccup"
},
{
"code": "397",
"display": "Giant cell arteritis"
},
{
"code": "399",
"display": "Huntington disease"
},
{
"code": "400",
"display": "Cystic echinococcosis"
},
{
"code": "401",
"display": "Hymenolepiasis"
},
{
"code": "403",
"display": "Familial hyperaldosteronism type I"
},
{
"code": "404",
"display": "Familial hyperaldosteronism type II"
},
{
"code": "405",
"display": "Familial hypocalciuric hypercalcemia"
},
{
"code": "407",
"display": "Glycine encephalopathy"
},
{
"code": "408",
"display": "Isolated glycerol kinase deficiency"
},
{
"code": "409",
"display": "Hyperkeratosis lenticularis perstans"
},
{
"code": "412",
"display": "Dysbetalipoproteinemia"
},
{
"code": "414",
"display": "Gyrate atrophy of choroid and retina"
},
{
"code": "415",
"display": "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome"
},
{
"code": "416",
"display": "Primary hyperoxaluria"
},
{
"code": "417",
"display": "Neonatal severe primary hyperparathyroidism"
},
{
"code": "419",
"display": "Hyperprolinemia type 1"
},
{
"code": "422",
"display": "Idiopathic/heritable pulmonary arterial hypertension"
},
{
"code": "423",
"display": "Malignant hyperthermia of anesthesia"
},
{
"code": "424",
"display": "Familial hyperthyroidism due to mutations in TSH receptor"
},
{
"code": "425",
"display": "Apolipoprotein A-I deficiency"
},
{
"code": "427",
"display": "Familial hypoaldosteronism"
},
{
"code": "428",
"display": "Autosomal dominant hypocalcemia"
},
{
"code": "429",
"display": "Hypochondroplasia"
},
{
"code": "432",
"display": "Normosmic congenital hypogonadotropic hypogonadism"
},
{
"code": "436",
"display": "Hypophosphatasia"
},
{
"code": "439",
"display": "Isolated right ventricular hypoplasia"
},
{
"code": "441",
"display": "Pure autonomic failure"
},
{
"code": "444",
"display": "Marie Unna hereditary hypotrichosis"
},
{
"code": "446",
"display": "Neonatal hemochromatosis"
},
{
"code": "447",
"display": "Paroxysmal nocturnal hemoglobinuria"
},
{
"code": "449",
"display": "Hepatoblastoma"
},
{
"code": "452",
"display": "X-linked lissencephaly with abnormal genitalia"
},
{
"code": "454",
"display": "Acquired ichthyosis"
},
{
"code": "455",
"display": "Superficial epidermolytic ichthyosis"
},
{
"code": "457",
"display": "Harlequin ichthyosis"
},
{
"code": "461",
"display": "Recessive X-linked ichthyosis"
},
{
"code": "464",
"display": "Incontinentia pigmenti"
},
{
"code": "465",
"display": "Congenital plasminogen activator inhibitor type 1 deficiency"
},
{
"code": "466",
"display": "Fatal familial insomnia"
},
{
"code": "469",
"display": "Hereditary fructose intolerance"
},
{
"code": "470",
"display": "Lysinuric protein intolerance"
},
{
"code": "472",
"display": "Isosporiasis"
},
{
"code": "474",
"display": "Jeune syndrome"
},
{
"code": "475",
"display": "Joubert syndrome"
},
{
"code": "477",
"display": "KID syndrome"
},
{
"code": "478",
"display": "Kallmann syndrome"
},
{
"code": "480",
"display": "Kearns-Sayre syndrome"
},
{
"code": "481",
"display": "Kennedy disease"
},
{
"code": "482",
"display": "Kimura disease"
},
{
"code": "483",
"display": "Congenital high-molecular-weight kininogen deficiency"
},
{
"code": "485",
"display": "Kniest dysplasia"
},
{
"code": "486",
"display": "Autosomal dominant severe congenital neutropenia"
},
{
"code": "487",
"display": "Krabbe disease"
},
{
"code": "488",
"display": "Urachal cyst"
},
{
"code": "490",
"display": "Omphalomesenteric cyst"
},
{
"code": "492",
"display": "Proliferating trichilemmal cyst"
},
{
"code": "493",
"display": "Familial keratoacanthoma"
},
{
"code": "494",
"display": "Keratoderma hereditarium mutilans"
},
{
"code": "495",
"display": "Transgrediens et progrediens palmoplantar keratoderma"
},
{
"code": "499",
"display": "Kerion celsi"
},
{
"code": "500",
"display": "Noonan syndrome with multiple lentigines"
},
{
"code": "501",
"display": "Lafora disease"
},
{
"code": "502",
"display": "Trichorhinophalangeal syndrome type 2"
},
{
"code": "503",
"display": "Larsen syndrome"
},
{
"code": "504",
"display": "Creeping myiasis"
},
{
"code": "505",
"display": "Graham Little-Piccardi-Lassueur syndrome"
},
{
"code": "506",
"display": "Leigh syndrome"
},
{
"code": "507",
"display": "Leishmaniasis"
},
{
"code": "508",
"display": "Leprechaunism"
},
{
"code": "509",
"display": "Leptospirosis"
},
{
"code": "510",
"display": "Lesch-Nyhan syndrome"
},
{
"code": "511",
"display": "Maple syrup urine disease"
},
{
"code": "512",
"display": "Metachromatic leukodystrophy"
},
{
"code": "514",
"display": "Acute monoblastic/monocytic leukemia"
},
{
"code": "517",
"display": "Acute myelomonocytic leukemia"
},
{
"code": "518",
"display": "Acute megakaryoblastic leukemia"
},
{
"code": "520",
"display": "Acute promyelocytic leukemia"
},
{
"code": "521",
"display": "Chronic myeloid leukemia"
},
{
"code": "523",
"display": "Hereditary leiomyomatosis and renal cell cancer"
},
{
"code": "524",
"display": "Li-Fraumeni syndrome"
},
{
"code": "525",
"display": "Lichen planopilaris"
},
{
"code": "526",
"display": "Liddle syndrome"
},
{
"code": "528",
"display": "Congenital generalized lipodystrophy"
},
{
"code": "529",
"display": "Roch-Leri mesosomatous lipomatosis"
},
{
"code": "530",
"display": "Lipoid proteinosis"
},
{
"code": "531",
"display": "Miller-Dieker syndrome"
},
{
"code": "533",
"display": "Listeriosis"
},
{
"code": "534",
"display": "Oculocerebrorenal syndrome of Lowe"
},
{
"code": "536",
"display": "Systemic lupus erythematosus"
},
{
"code": "537",
"display": "Toxic epidermal necrolysis"
},
{
"code": "538",
"display": "Lymphangioleiomyomatosis"
},
{
"code": "540",
"display": "Familial hemophagocytic lymphohistiocytosis"
},
{
"code": "543",
"display": "Burkitt lymphoma"
},
{
"code": "545",
"display": "Follicular lymphoma"
},
{
"code": "548",
"display": "Leprosy"
},
{
"code": "549",
"display": "Legionnaires disease"
},
{
"code": "550",
"display": "MELAS"
},
{
"code": "551",
"display": "MERRF"
},
{
"code": "552",
"display": "MODY"
},
{
"code": "556",
"display": "Malakoplakia"
},
{
"code": "558",
"display": "Marfan syndrome"
},
{
"code": "559",
"display": "Marinesco-Sjögren syndrome"
},
{
"code": "560",
"display": "Marshall syndrome"
},
{
"code": "561",
"display": "Marshall-Smith syndrome"
},
{
"code": "562",
"display": "McCune-Albright syndrome"
},
{
"code": "563",
"display": "Peripartum cardiomyopathy"
},
{
"code": "564",
"display": "Meckel syndrome"
},
{
"code": "565",
"display": "Menkes disease"
},
{
"code": "566",
"display": "Congenital microcoria"
},
{
"code": "567",
"display": "22q11.2 deletion syndrome"
},
{
"code": "568",
"display": "Microphthalmia, Lenz type"
},
{
"code": "569",
"display": "Familial or sporadic hemiplegic migraine"
},
{
"code": "570",
"display": "Moebius syndrome"
},
{
"code": "572",
"display": "Immunodeficiency by defective expression of MHC class II"
},
{
"code": "573",
"display": "Monilethrix"
},
{
"code": "574",
"display": "21q deletion syndrome"
},
{
"code": "575",
"display": "Muckle-Wells syndrome"
},
{
"code": "576",
"display": "Mucolipidosis type II"
},
{
"code": "577",
"display": "Mucolipidosis type III"
},
{
"code": "578",
"display": "Mucolipidosis type IV"
},
{
"code": "579",
"display": "Mucopolysaccharidosis type 1"
},
{
"code": "580",
"display": "Mucopolysaccharidosis type 2"
},
{
"code": "581",
"display": "Mucopolysaccharidosis type 3"
},
{
"code": "582",
"display": "Mucopolysaccharidosis type 4"
},
{
"code": "583",
"display": "Mucopolysaccharidosis type 6"
},
{
"code": "584",
"display": "Mucopolysaccharidosis type 7"
},
{
"code": "585",
"display": "Multiple sulfatase deficiency"
},
{
"code": "586",
"display": "Cystic fibrosis"
},
{
"code": "588",
"display": "Muscle-eye-brain disease"
},
{
"code": "589",
"display": "Myasthenia gravis"
},
{
"code": "590",
"display": "Congenital myasthenic syndrome"
},
{
"code": "591",
"display": "Furuncular myiasis"
},
{
"code": "592",
"display": "Macrophagic myofasciitis"
},
{
"code": "596",
"display": "X-linked centronuclear myopathy"
},
{
"code": "597",
"display": "Central core disease"
},
{
"code": "598",
"display": "Multiminicore myopathy"
},
{
"code": "600",
"display": "Vocal cord and pharyngeal distal myopathy"
},
{
"code": "602",
"display": "GNE myopathy"
},
{
"code": "603",
"display": "Distal myopathy, Welander type"
},
{
"code": "606",
"display": "Proximal myotonic myopathy"
},
{
"code": "609",
"display": "Tibial muscular dystrophy"
},
{
"code": "610",
"display": "Bethlem muscular dystrophy"
},
{
"code": "611",
"display": "Inclusion body myositis"
},
{
"code": "614",
"display": "Thomsen and Becker disease"
},
{
"code": "615",
"display": "Familial atrial myxoma"
},
{
"code": "616",
"display": "Medulloblastoma"
},
{
"code": "617",
"display": "Congenital primary megaureter"
},
{
"code": "618",
"display": "Familial melanoma"
},
{
"code": "621",
"display": "Hereditary methemoglobinemia"
},
{
"code": "622",
"display": "Homocystinuria without methylmalonic aciduria"
},
{
"code": "624",
"display": "Familial multiple nevi flammei"
},
{
"code": "626",
"display": "Large congenital melanocytic nevus"
},
{
"code": "627",
"display": "Nance-Horan syndrome"
},
{
"code": "628",
"display": "Diastrophic dysplasia"
},
{
"code": "629",
"display": "Short stature due to growth hormone qualitative anomaly"
},
{
"code": "631",
"display": "Non-acquired isolated growth hormone deficiency"
},
{
"code": "632",
"display": "Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia"
},
{
"code": "633",
"display": "Laron syndrome"
},
{
"code": "634",
"display": "Netherton syndrome"
},
{
"code": "635",
"display": "Neuroblastoma"
},
{
"code": "636",
"display": "Neurofibromatosis type 1"
},
{
"code": "637",
"display": "Full NF2-related schwannomatosis"
},
{
"code": "638",
"display": "Neurofibromatosis-Noonan syndrome"
},
{
"code": "639",
"display": "Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG"
},
{
"code": "640",
"display": "Hereditary neuropathy with liability to pressure palsies"
},
{
"code": "641",
"display": "Multifocal motor neuropathy"
},
{
"code": "642",
"display": "Hereditary sensory and autonomic neuropathy type 4"
},
{
"code": "643",
"display": "Giant axonal neuropathy"
},
{
"code": "644",
"display": "NARP syndrome"
},
{
"code": "646",
"display": "Niemann-Pick disease type C"
},
{
"code": "647",
"display": "Nijmegen breakage syndrome"
},
{
"code": "648",
"display": "Noonan syndrome"
},
{
"code": "649",
"display": "Norrie disease"
},
{
"code": "650",
"display": "LCAT deficiency"
},
{
"code": "652",
"display": "Multiple endocrine neoplasia type 1"
},
{
"code": "653",
"display": "Multiple endocrine neoplasia type 2"
},
{
"code": "654",
"display": "Nephroblastoma"
},
{
"code": "655",
"display": "Nephronophthisis"
},
{
"code": "656",
"display": "Genetic steroid-resistant nephrotic syndrome"
},
{
"code": "659",
"display": "Mutilating palmoplantar keratoderma with periorificial keratotic plaques"
},
{
"code": "660",
"display": "Omphalocele"
},
{
"code": "661",
"display": "Congenital central hypoventilation syndrome"
},
{
"code": "662",
"display": "Yellow nail syndrome"
},
{
"code": "663",
"display": "Mitochondrial DNA-related progressive external ophthalmoplegia"
},
{
"code": "664",
"display": "Ornithine transcarbamylase deficiency"
},
{
"code": "666",
"display": "Osteogenesis imperfecta"
},
{
"code": "667",
"display": "Autosomal recessive malignant osteopetrosis"
},
{
"code": "668",
"display": "Osteosarcoma"
},
{
"code": "672",
"display": "Pallister-Hall syndrome"
},
{
"code": "673",
"display": "Malaria"
},
{
"code": "674",
"display": "Accessory pancreas"
},
{
"code": "675",
"display": "Annular pancreas"
},
{
"code": "676",
"display": "Hereditary chronic pancreatitis"
},
{
"code": "677",
"display": "Pancreatoblastoma"
},
{
"code": "678",
"display": "Papillon-Lefèvre syndrome"
},
{
"code": "679",
"display": "Malignant atrophic papulosis"
},
{
"code": "681",
"display": "Hypokalemic periodic paralysis"
},
{
"code": "682",
"display": "Hyperkalemic periodic paralysis"
},
{
"code": "683",
"display": "Progressive supranuclear palsy"
},
{
"code": "684",
"display": "Paramyotonia congenita of Von Eulenburg"
},
{
"code": "699",
"display": "Pearson syndrome"
},
{
"code": "700",
"display": "Alopecia totalis"
},
{
"code": "701",
"display": "Alopecia universalis"
},
{
"code": "702",
"display": "Pelizaeus-Merzbacher disease"
},
{
"code": "703",
"display": "Bullous pemphigoid"
},
{
"code": "704",
"display": "Pemphigus vulgaris"
},
{
"code": "705",
"display": "Pendred syndrome"
},
{
"code": "707",
"display": "Plague"
},
{
"code": "708",
"display": "Peters anomaly"
},
{
"code": "709",
"display": "Peters plus syndrome"
},
{
"code": "710",
"display": "Pfeiffer syndrome"
},
{
"code": "712",
"display": "Hemolytic anemia due to glucophosphate isomerase deficiency"
},
{
"code": "713",
"display": "Glycogen storage disease due to phosphoglycerate kinase 1 deficiency"
},
{
"code": "714",
"display": "Hemolytic anemia due to diphosphoglycerate mutase deficiency"
},
{
"code": "715",
"display": "Glycogen storage disease due to muscle phosphorylase kinase deficiency"
},
{
"code": "716",
"display": "Phenylketonuria"
},
{
"code": "718",
"display": "Isolated Pierre Robin syndrome"
},
{
"code": "720",
"display": "Pili bifurcati"
},
{
"code": "721",
"display": "Gray platelet syndrome"
},
{
"code": "722",
"display": "Hypoplasminogenemia"
},
{
"code": "723",
"display": "Pneumocystosis"
},
{
"code": "724",
"display": "Idiopathic acute eosinophilic pneumonia"
},
{
"code": "725",
"display": "Continuous spikes and waves during sleep"
},
{
"code": "726",
"display": "Alpers-Huttenlocher syndrome"
},
{
"code": "727",
"display": "Microscopic polyangiitis"
},
{
"code": "728",
"display": "Relapsing polychondritis"
},
{
"code": "729",
"display": "Polycythemia vera"
},
{
"code": "730",
"display": "Autosomal dominant polycystic kidney disease"
},
{
"code": "731",
"display": "Autosomal recessive polycystic kidney disease"
},
{
"code": "732",
"display": "Polymyositis"
},
{
"code": "733",
"display": "Familial adenomatous polyposis"
},
{
"code": "734",
"display": "Alpha delta granule deficiency"
},
{
"code": "735",
"display": "Porokeratosis of Mibelli"
},
{
"code": "737",
"display": "Porokeratosis plantaris palmaris et disseminata"
},
{
"code": "739",
"display": "Prader-Willi syndrome"
},
{
"code": "740",
"display": "Hutchinson-Gilford progeria syndrome"
},
{
"code": "741",
"display": "Familial mitral valve prolapse"
},
{
"code": "742",
"display": "Prolidase deficiency"
},
{
"code": "743",
"display": "Severe hereditary thrombophilia due to congenital protein S deficiency"
},
{
"code": "744",
"display": "Proteus syndrome"
},
{
"code": "745",
"display": "Severe hereditary thrombophilia due to congenital protein C deficiency"
},
{
"code": "746",
"display": "Mitochondrial trifunctional protein deficiency"
},
{
"code": "747",
"display": "Autoimmune pulmonary alveolar proteinosis"
},
{
"code": "749",
"display": "Congenital prekallikrein deficiency"
},
{
"code": "750",
"display": "Pseudoachondroplasia"
},
{
"code": "752",
"display": "46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency"
},
{
"code": "753",
"display": "46,XY difference of sex development due to 5-alpha-reductase 2 deficiency"
},
{
"code": "755",
"display": "Leydig cell hypoplasia"
},
{
"code": "756",
"display": "Pseudohypoaldosteronism type 1"
},
{
"code": "757",
"display": "Pseudohypoaldosteronism type 2"
},
{
"code": "758",
"display": "Pseudoxanthoma elasticum"
},
{
"code": "760",
"display": "Purine nucleoside phosphorylase deficiency"
},
{
"code": "761",
"display": "Immunoglobulin A vasculitis"
},
{
"code": "763",
"display": "Pycnodysostosis"
},
{
"code": "764",
"display": "Pyomyositis"
},
{
"code": "765",
"display": "Pyruvate dehydrogenase deficiency"
},
{
"code": "766",
"display": "Hemolytic anemia due to red cell pyruvate kinase deficiency"
},
{
"code": "767",
"display": "Polyarteritis nodosa"
},
{
"code": "769",
"display": "Rabson-Mendenhall syndrome"
},
{
"code": "770",
"display": "Rabies"
},
{
"code": "772",
"display": "Infantile Refsum disease"
},
{
"code": "773",
"display": "Refsum disease"
},
{
"code": "774",
"display": "Hereditary hemorrhagic telangiectasia"
},
{
"code": "776",
"display": "Lujan-Fryns syndrome"
},
{
"code": "777",
"display": "X-linked non-syndromic intellectual disability"
},
{
"code": "778",
"display": "Rett syndrome"
},
{
"code": "779",
"display": "Reynolds syndrome"
},
{
"code": "780",
"display": "Rhabdomyosarcoma"
},
{
"code": "781",
"display": "Q fever"
},
{
"code": "782",
"display": "Axenfeld-Rieger syndrome"
},
{
"code": "783",
"display": "Rubinstein-Taybi syndrome"
},
{
"code": "785",
"display": "Estrogen resistance syndrome"
},
{
"code": "786",
"display": "Generalized glucocorticoid resistance syndrome"
},
{
"code": "790",
"display": "Retinoblastoma"
},
{
"code": "791",
"display": "Retinitis pigmentosa"
},
{
"code": "792",
"display": "X-linked retinoschisis"
},
{
"code": "793",
"display": "SAPHO syndrome"
},
{
"code": "794",
"display": "Saethre-Chotzen syndrome"
},
{
"code": "796",
"display": "Sandhoff disease"
},
{
"code": "797",
"display": "Sarcoidosis"
},
{
"code": "798",
"display": "Schinzel-Giedion syndrome"
},
{
"code": "799",
"display": "Schizencephaly"
},
{
"code": "800",
"display": "Schwartz-Jampel syndrome"
},
{
"code": "803",
"display": "Amyotrophic lateral sclerosis"
},
{
"code": "805",
"display": "Tuberous sclerosis complex"
},
{
"code": "806",
"display": "Scott syndrome"
},
{
"code": "808",
"display": "Seckel syndrome"
},
{
"code": "809",
"display": "Mixed connective tissue disease"
},
{
"code": "810",
"display": "Shigellosis"
},
{
"code": "811",
"display": "Shwachman-Diamond syndrome"
},
{
"code": "812",
"display": "Sialidosis type 1"
},
{
"code": "813",
"display": "Silver-Russell syndrome"
},
{
"code": "816",
"display": "Sjögren-Larsson syndrome"
},
{
"code": "818",
"display": "Smith-Lemli-Opitz syndrome"
},
{
"code": "819",
"display": "Smith-Magenis syndrome"
},
{
"code": "820",
"display": "Sneddon syndrome"
},
{
"code": "821",
"display": "Sotos syndrome"
},
{
"code": "822",
"display": "Hereditary spherocytosis"
},
{
"code": "824",
"display": "Primary myelofibrosis"
},
{
"code": "826",
"display": "Sporotrichosis"
},
{
"code": "827",
"display": "Stargardt disease"
},
{
"code": "828",
"display": "Stickler syndrome"
},
{
"code": "829",
"display": "Adult-onset Still disease"
},
{
"code": "831",
"display": "Congenital cervical spinal stenosis"
},
{
"code": "832",
"display": "Succinyl-CoA:3-oxoacid CoA transferase deficiency"
},
{
"code": "833",
"display": "Encephalopathy due to sulfite oxidase deficiency"
},
{
"code": "834",
"display": "Free sialic acid storage disease"
},
{
"code": "838",
"display": "Susac syndrome"
},
{
"code": "839",
"display": "Congenital nephrotic syndrome, Finnish type"
},
{
"code": "840",
"display": "Syringocystadenoma papilliferum"
},
{
"code": "841",
"display": "Sebocystomatosis"
},
{
"code": "842",
"display": "Testicular seminomatous germ cell tumor"
},
{
"code": "844",
"display": "Lown-Ganong-Levine syndrome"
},
{
"code": "845",
"display": "Tay-Sachs disease"
},
{
"code": "846",
"display": "Alpha-thalassemia"
},
{
"code": "847",
"display": "X-linked alpha-thalassemia-intellectual disability syndrome"
},
{
"code": "848",
"display": "Beta-thalassemia"
},
{
"code": "849",
"display": "Glanzmann thrombasthenia"
},
{
"code": "851",
"display": "Paris-Trousseau thrombocytopenia"
},
{
"code": "852",
"display": "X-linked thrombocytopenia with normal platelets"
},
{
"code": "853",
"display": "Fetal and neonatal alloimmune thrombocytopenia"
},
{
"code": "854",
"display": "Primitive portal vein thrombosis"
},
{
"code": "857",
"display": "Townes-Brocks syndrome"
},
{
"code": "858",
"display": "Congenital toxoplasmosis"
},
{
"code": "859",
"display": "Transcobalamin deficiency"
},
{
"code": "860",
"display": "Congenitally uncorrected transposition of the great arteries"
},
{
"code": "861",
"display": "Treacher-Collins syndrome"
},
{
"code": "863",
"display": "Trichinellosis"
},
{
"code": "864",
"display": "Trichofolliculoma"
},
{
"code": "867",
"display": "Familial multiple trichoepithelioma"
},
{
"code": "868",
"display": "Triose phosphate-isomerase deficiency"
},
{
"code": "869",
"display": "Triple A syndrome"
},
{
"code": "870",
"display": "Down syndrome"
},
{
"code": "871",
"display": "Familial progressive cardiac conduction defect"
},
{
"code": "873",
"display": "Desmoid tumor"
},
{
"code": "874",
"display": "Primary adult heart tumor"
},
{
"code": "875",
"display": "Primary pediatric heart tumor"
},
{
"code": "876",
"display": "Yolk sac tumor"
},
{
"code": "879",
"display": "Tungiasis"
},
{
"code": "881",
"display": "Turner syndrome"
},
{
"code": "882",
"display": "Tyrosinemia type 1"
},
{
"code": "883",
"display": "Extragonadal teratoma"
},
{
"code": "884",
"display": "Tetrasomy 12p"
},
{
"code": "886",
"display": "Usher syndrome"
},
{
"code": "887",
"display": "VACTERL/VATER association"
},
{
"code": "888",
"display": "Van der Woude syndrome"
},
{
"code": "889",
"display": "Cutaneous small vessel vasculitis"
},
{
"code": "890",
"display": "Hepatic veno-occlusive disease"
},
{
"code": "891",
"display": "Familial exudative vitreoretinopathy"
},
{
"code": "892",
"display": "Von Hippel-Lindau disease"
},
{
"code": "893",
"display": "WAGR syndrome"
},
{
"code": "894",
"display": "Waardenburg syndrome type 1"
},
{
"code": "895",
"display": "Waardenburg syndrome type 2"
},
{
"code": "896",
"display": "Waardenburg syndrome type 3"
},
{
"code": "897",
"display": "Waardenburg-Shah syndrome"
},
{
"code": "898",
"display": "Wagner disease"
},
{
"code": "899",
"display": "Walker-Warburg syndrome"
},
{
"code": "900",
"display": "Granulomatosis with polyangiitis"
},
{
"code": "901",
"display": "Wells syndrome"
},
{
"code": "902",
"display": "Werner syndrome"
},
{
"code": "903",
"display": "Von Willebrand disease"
},
{
"code": "904",
"display": "Williams syndrome"
},
{
"code": "905",
"display": "Wilson disease"
},
{
"code": "906",
"display": "Wiskott-Aldrich syndrome"
},
{
"code": "908",
"display": "Fragile X syndrome"
},
{
"code": "909",
"display": "Cerebrotendinous xanthomatosis"
},
{
"code": "910",
"display": "Xeroderma pigmentosum"
},
{
"code": "911",
"display": "Combined immunodeficiency due to ZAP70 deficiency"
},
{
"code": "912",
"display": "Zellweger syndrome"
},
{
"code": "913",
"display": "Zollinger-Ellison syndrome"
},
{
"code": "915",
"display": "Aarskog-Scott syndrome"
},
{
"code": "916",
"display": "Aase-Smith syndrome"
},
{
"code": "920",
"display": "Ablepharon macrostomia syndrome"
},
{
"code": "921",
"display": "Abruzzo-Erickson syndrome"
},
{
"code": "922",
"display": "Familial nasal acilia"
},
{
"code": "926",
"display": "Acatalasemia"
},
{
"code": "927",
"display": "Hyperammonemia due to N-acetylglutamate synthase deficiency"
},
{
"code": "929",
"display": "Achalasia-microcephaly syndrome"
},
{
"code": "930",
"display": "Idiopathic achalasia"
},
{
"code": "931",
"display": "Isolated acheiropodia"
},
{
"code": "932",
"display": "Achondrogenesis"
},
{
"code": "935",
"display": "Short-limb skeletal dysplasia with severe combined immunodeficiency"
},
{
"code": "939",
"display": "3-hydroxyisobutyric aciduria"
},
{
"code": "941",
"display": "D-glyceric aciduria"
},
{
"code": "943",
"display": "Malonic aciduria"
},
{
"code": "945",
"display": "Acalvaria"
},
{
"code": "949",
"display": "Acrocraniofacial dysostosis"
},
{
"code": "950",
"display": "Acrodysostosis"
},
{
"code": "952",
"display": "Acrofacial dysostosis, Weyers type"
},
{
"code": "955",
"display": "Hajdu-Cheney syndrome"
},
{
"code": "957",
"display": "Acropectorovertebral dysplasia"
},
{
"code": "958",
"display": "Acro-renal-mandibular syndrome"
},
{
"code": "959",
"display": "Acro-renal-ocular syndrome"
},
{
"code": "963",
"display": "Acromegaly"
},
{
"code": "968",
"display": "Acromesomelic dysplasia, Hunter-Thompson type"
},
{
"code": "969",
"display": "Acromicric dysplasia"
},
{
"code": "970",
"display": "Hereditary sensory and autonomic neuropathy type 2"
},
{
"code": "971",
"display": "Acrorenal syndrome"
},
{
"code": "972",
"display": "Hereditary continuous muscle fiber activity"
},
{
"code": "973",
"display": "Isolated absence/hypoplasia of fingers excluding thumb, unilateral"
},
{
"code": "974",
"display": "Adams-Oliver syndrome"
},
{
"code": "976",
"display": "Adenine phosphoribosyltransferase deficiency"
},
{
"code": "977",
"display": "Adrenomyodystrophy"
},
{
"code": "978",
"display": "ADULT syndrome"
},
{
"code": "980",
"display": "Absence of the pulmonary artery"
},
{
"code": "981",
"display": "Internal carotid absence"
},
{
"code": "983",
"display": "Testicular regression syndrome"
},
{
"code": "984",
"display": "Pulmonary agenesis"
},
{
"code": "988",
"display": "Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome"
},
{
"code": "989",
"display": "Hypoglossia-hypodactyly syndrome"
},
{
"code": "990",
"display": "Agnathia-holoprosencephaly-situs inversus syndrome"
},
{
"code": "991",
"display": "PAGOD syndrome"
},
{
"code": "994",
"display": "Fetal akinesia deformation sequence"
},
{
"code": "998",
"display": "Albinism-deafness syndrome"
},
{
"code": "999",
"display": "Ermine phenotype"
},
{
"code": "1000",
"display": "Ocular albinism with late-onset sensorineural deafness"
},
{
"code": "1001",
"display": "2q37 microdeletion syndrome"
},
{
"code": "1003",
"display": "Scalp defects-postaxial polydactyly syndrome"
},
{
"code": "1005",
"display": "Alopecia-contractures-dwarfism-intellectual disability syndrome"
},
{
"code": "1006",
"display": "Alopecia antibody deficiency"
},
{
"code": "1008",
"display": "Alopecia-epilepsy-pyorrhea-intellectual disability syndrome"
},
{
"code": "1010",
"display": "Autosomal dominant palmoplantar keratoderma and congenital alopecia"
},
{
"code": "1014",
"display": "Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome"
},
{
"code": "1018",
"display": "X-linked Alport syndrome-diffuse leiomyomatosis"
},
{
"code": "1020",
"display": "Early-onset autosomal dominant Alzheimer disease"
},
{
"code": "1021",
"display": "Amaurosis-hypertrichosis syndrome"
},
{
"code": "1023",
"display": "Congenital generalized hypertrichosis, Ambras type"
},
{
"code": "1027",
"display": "Autosomal recessive amelia"
},
{
"code": "1028",
"display": "Amelo-onycho-hypohidrotic syndrome"
},
{
"code": "1031",
"display": "Enamel-renal syndrome"
},
{
"code": "1035",
"display": "Beta-mercaptolactate cysteine disulfiduria"
},
{
"code": "1040",
"display": "Metaphyseal anadysplasia"
},
{
"code": "1041",
"display": "Hydrops fetalis"
},
{
"code": "1046",
"display": "Lethal hemolytic anemia-genital anomalies syndrome"
},
{
"code": "1048",
"display": "Isolated anencephaly/exencephaly"
},
{
"code": "1051",
"display": "Ramos-Arroyo syndrome"
},
{
"code": "1052",
"display": "Mosaic variegated aneuploidy syndrome"
},
{
"code": "1053",
"display": "Vein of Galen aneurysmal malformation"
},
{
"code": "1054",
"display": "Aneurysm of sinus of Valsalva"
},
{
"code": "1055",
"display": "Congenital left ventricular aneurysm"
},
{
"code": "1059",
"display": "Blue rubber bleb nevus"
},
{
"code": "1062",
"display": "Hereditary neurocutaneous malformation"
},
{
"code": "1063",
"display": "Tufted angioma"
},
{
"code": "1064",
"display": "Aniridia-renal agenesis-psychomotor retardation syndrome"
},
{
"code": "1065",
"display": "Aniridia-cerebellar ataxia-intellectual disability syndrome"
},
{
"code": "1067",
"display": "Aniridia-ptosis-intellectual disability-familial obesity syndrome"
},
{
"code": "1068",
"display": "Aniridia-intellectual disability syndrome"
},
{
"code": "1069",
"display": "Aniridia-absent patella syndrome"
},
{
"code": "1070",
"display": "Anisakiasis"
},
{
"code": "1071",
"display": "Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome"
},
{
"code": "1072",
"display": "Ankyloblepharon filiforme adnatum-cleft palate syndrome"
},
{
"code": "1074",
"display": "Ankyloblepharon filiforme adnatum-imperforate anus syndrome"
},
{
"code": "1077",
"display": "Dental ankylosis"
},
{
"code": "1078",
"display": "Thumb stiffness-brachydactyly-intellectual disability syndrome"
},
{
"code": "1083",
"display": "Microlissencephaly"
},
{
"code": "1084",
"display": "Isolated lissencephaly type 1 without known genetic defects"
},
{
"code": "1094",
"display": "Anonychia-microcephaly syndrome"
},
{
"code": "1101",
"display": "Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome"
},
{
"code": "1104",
"display": "Anophthalmia plus syndrome"
},
{
"code": "1106",
"display": "Microphthalmia with limb anomalies"
},
{
"code": "1110",
"display": "Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome"
},
{
"code": "1112",
"display": "Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome"
},
{
"code": "1113",
"display": "Aphalangy-syndactyly-microcephaly syndrome"
},
{
"code": "1114",
"display": "Aplasia cutis congenita"
},
{
"code": "1116",
"display": "Aplasia cutis congenita-intestinal lymphangiectasia syndrome"
},
{
"code": "1117",
"display": "Aplasia cutis-myopia syndrome"
},
{
"code": "1118",
"display": "Fibular aplasia-ectrodactyly syndrome"
},
{
"code": "1120",
"display": "Lung agenesis-heart defect-thumb anomalies syndrome"
},
{
"code": "1121",
"display": "Radial deficiency-tibial hypoplasia syndrome"
},
{
"code": "1122",
"display": "Ulnar hypoplasia-split foot syndrome"
},
{
"code": "1123",
"display": "Caudal appendage-deafness syndrome"
},
{
"code": "1125",
"display": "Ocular motor apraxia, Cogan type"
},
{
"code": "1126",
"display": "Aprosencephaly cerebellar dysgenesis"
},
{
"code": "1129",
"display": "Arachnodactyly-abnormal ossification-intellectual disability syndrome"
},
{
"code": "1130",
"display": "Arachnodactyly-intellectual disability-dysmorphism syndrome"
},
{
"code": "1131",
"display": "X-linked mandibulofacial dysostosis"
},
{
"code": "1133",
"display": "AREDYLD syndrome"
},
{
"code": "1134",
"display": "Isolated arrhinia"
},
{
"code": "1135",
"display": "Arrhinia-choanal atresia-microphthalmia syndrome"
},
{
"code": "1143",
"display": "Neurogenic arthrogryposis multiplex congenita"
},
{
"code": "1144",
"display": "Arthrogryposis-like hand anomaly-sensorineural deafness syndrome"
},
{
"code": "1145",
"display": "Infantile-onset X-linked spinal muscular atrophy"
},
{
"code": "1146",
"display": "Distal arthrogryposis type 1"
},
{
"code": "1147",
"display": "Sheldon-Hall syndrome"
},
{
"code": "1149",
"display": "Kuskokwim syndrome"
},
{
"code": "1150",
"display": "Arthrogryposis multiplex congenita-whistling face syndrome"
},
{
"code": "1154",
"display": "Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome"
},
{
"code": "1159",
"display": "Progressive pseudorheumatoid arthropathy of childhood"
},
{
"code": "1160",
"display": "Chylous ascites"
},
{
"code": "1163",
"display": "Aspergillosis"
},
{
"code": "1164",
"display": "Allergic bronchopulmonary aspergillosis"
},
{
"code": "1166",
"display": "Congenital unilateral hypoplasia of depressor anguli oris"
},
{
"code": "1168",
"display": "Ataxia-oculomotor apraxia type 1"
},
{
"code": "1170",
"display": "Autosomal recessive cerebelloparenchymal disorder type 3"
},
{
"code": "1171",
"display": "Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome"
},
{
"code": "1173",
"display": "Cerebellar ataxia-hypogonadism syndrome"
},
{
"code": "1174",
"display": "Cerebellar ataxia-ectodermal dysplasia syndrome"
},
{
"code": "1175",
"display": "X-linked progressive cerebellar ataxia"
},
{
"code": "1177",
"display": "Early-onset cerebellar ataxia with retained tendon reflexes"
},
{
"code": "1178",
"display": "Ataxia-tapetoretinal degeneration syndrome"
},
{
"code": "1179",
"display": "Benign paroxysmal tonic upgaze of childhood with ataxia"
},
{
"code": "1180",
"display": "Ataxia-hypogonadism-choroidal dystrophy syndrome"
},
{
"code": "1182",
"display": "Spastic ataxia with congenital miosis"
},
{
"code": "1183",
"display": "Opsoclonus-myoclonus syndrome"
},
{
"code": "1184",
"display": "Ataxia-photosensitivity-short stature syndrome"
},
{
"code": "1185",
"display": "Spinocerebellar ataxia-dysmorphism syndrome"
},
{
"code": "1186",
"display": "Infantile-onset spinocerebellar ataxia"
},
{
"code": "1187",
"display": "Lethal ataxia with deafness and optic atrophy"
},
{
"code": "1188",
"display": "Ataxia-deafness-intellectual disability syndrome"
},
{
"code": "1190",
"display": "Atelosteogenesis type I"
},
{
"code": "1192",
"display": "Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome"
},
{
"code": "1193",
"display": "Atkin-Flaitz syndrome"
},
{
"code": "1194",
"display": "TMEM70-related mitochondrial encephalo-cardio-myopathy"
},
{
"code": "1195",
"display": "Congenital atransferrinemia"
},
{
"code": "1198",
"display": "Colonic atresia"
},
{
"code": "1199",
"display": "Esophageal atresia"
},
{
"code": "1200",
"display": "Burn-McKeown syndrome"
},
{
"code": "1201",
"display": "Small bowel atresia"
},
{
"code": "1202",
"display": "Larynx atresia"
},
{
"code": "1203",
"display": "Duodenal atresia"
},
{
"code": "1205",
"display": "Mitral atresia"
},
{
"code": "1207",
"display": "Pulmonary atresia with ventricular septal defect"
},
{
"code": "1208",
"display": "Pulmonary atresia-intact ventricular septum syndrome"
},
{
"code": "1209",
"display": "Tricuspid atresia"
},
{
"code": "1214",
"display": "Progressive hemifacial atrophy"
},
{
"code": "1215",
"display": "Autosomal dominant optic atrophy plus syndrome"
},
{
"code": "1216",
"display": "Autosomal dominant congenital benign spinal muscular atrophy"
},
{
"code": "1217",
"display": "Spinal atrophy-ophthalmoplegia-pyramidal syndrome"
},
{
"code": "1221",
"display": "Cheilitis glandularis"
},
{
"code": "1223",
"display": "Balantidiasis"
},
{
"code": "1225",
"display": "Baller-Gerold syndrome"
},
{
"code": "1226",
"display": "Bamforth-Lazarus syndrome"
},
{
"code": "1227",
"display": "Bangstad syndrome"
},
{
"code": "1228",
"display": "Banki syndrome"
},
{
"code": "1229",
"display": "Congenital intrauterine infection-like syndrome"
},
{
"code": "1231",
"display": "Barber-Say syndrome"
},
{
"code": "1234",
"display": "Bartsocas-Papas syndrome"
},
{
"code": "1236",
"display": "Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome"
},
{
"code": "1237",
"display": "Beemer-Ertbruggen syndrome"
},
{
"code": "1239",
"display": "Behr syndrome"
},
{
"code": "1241",
"display": "Bencze syndrome"
},
{
"code": "1243",
"display": "Best vitelliform macular dystrophy"
},
{
"code": "1246",
"display": "Brachydactyly-nystagmus-cerebellar ataxia syndrome"
},
{
"code": "1247",
"display": "Schistosomiasis"
},
{
"code": "1248",
"display": "Maxillonasal dysplasia"
},
{
"code": "1252",
"display": "Blepharonasofacial malformation syndrome"
},
{
"code": "1253",
"display": "Ascher syndrome"
},
{
"code": "1259",
"display": "Blepharoptosis-myopia-ectopia lentis syndrome"
},
{
"code": "1261",
"display": "Bonnemann-Meinecke-Reich syndrome"
},
{
"code": "1262",
"display": "Böök syndrome"
},
{
"code": "1263",
"display": "Boomerang dysplasia"
},
{
"code": "1264",
"display": "Tricho-retino-dento-digital syndrome"
},
{
"code": "1267",
"display": "Botulism"
},
{
"code": "1270",
"display": "Bowen-Conradi syndrome"
},
{
"code": "1272",
"display": "Aymé-Gripp syndrome"
},
{
"code": "1275",
"display": "Brachydactyly-elbow wrist dysplasia syndrome"
},
{
"code": "1276",
"display": "Brachydactyly-arterial hypertension syndrome"
},
{
"code": "1277",
"display": "Brachydactyly-mesomelia-intellectual disability-heart defects syndrome"
},
{
"code": "1278",
"display": "Brachydactyly-preaxial hallux varus syndrome"
},
{
"code": "1292",
"display": "Brachymorphism-onychodysplasia-dysphalangism syndrome"
},
{
"code": "1295",
"display": "Brachytelephalangy-dysmorphism-Kallmann syndrome"
},
{
"code": "1296",
"display": "Lambert syndrome"
},
{
"code": "1297",
"display": "Branchio-oculo-facial syndrome"
},
{
"code": "1299",
"display": "Branchioskeletogenital syndrome"
},
{
"code": "1300",
"display": "Autosomal dominant popliteal pterygium syndrome"
},
{
"code": "1302",
"display": "Cryptogenic organizing pneumonia"
},
{
"code": "1304",
"display": "Brucellosis"
},
{
"code": "1305",
"display": "Feingold syndrome"
},
{
"code": "1307",
"display": "Distal limb deficiencies-micrognathia syndrome"
},
{
"code": "1308",
"display": "C syndrome"
},
{
"code": "1309",
"display": "Medullary sponge kidney"
},
{
"code": "1310",
"display": "Caffey disease"
},
{
"code": "1313",
"display": "Infantile choroidocerebral calcification syndrome"
},
{
"code": "1314",
"display": "Symmetrical thalamic calcifications"
},
{
"code": "1318",
"display": "Campomelia, Cumming type"
},
{
"code": "1319",
"display": "Camptobrachydactyly"
},
{
"code": "1320",
"display": "Idiopathic camptocormia"
},
{
"code": "1321",
"display": "Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome"
},
{
"code": "1323",
"display": "Camptodactyly-joint contractures-facial skeletal defects syndrome"
},
{
"code": "1325",
"display": "Camptodactyly-taurinuria syndrome"
},
{
"code": "1326",
"display": "Camptodactyly syndrome, Guadalajara type 2"
},
{
"code": "1327",
"display": "Camptodactyly syndrome, Guadalajara type 1"
},
{
"code": "1328",
"display": "Camurati-Engelmann disease"
},
{
"code": "1329",
"display": "Complete atrioventricular septal defect"
},
{
"code": "1330",
"display": "Partial atrioventricular septal defect"
},
{
"code": "1331",
"display": "Familial prostate cancer"
},
{
"code": "1332",
"display": "Medullary thyroid carcinoma"
},
{
"code": "1333",
"display": "Familial pancreatic carcinoma"
},
{
"code": "1334",
"display": "Chronic mucocutaneous candidiasis"
},
{
"code": "1335",
"display": "Pentalogy of Cantrell"
},
{
"code": "1336",
"display": "Hyperkeratosis-hyperpigmentation syndrome"
},
{
"code": "1338",
"display": "Heart defect-tongue hamartoma-polysyndactyly syndrome"
},
{
"code": "1340",
"display": "Cardiofaciocutaneous syndrome"
},
{
"code": "1342",
"display": "Heart-hand syndrome type 3"
},
{
"code": "1344",
"display": "Atrial standstill"
},
{
"code": "1345",
"display": "Cardiomyopathy-cataract-hip spine disease syndrome"
},
{
"code": "1349",
"display": "Mitochondrial DNA-related cardiomyopathy and hearing loss"
},
{
"code": "1350",
"display": "Heart-hand syndrome type 2"
},
{
"code": "1352",
"display": "Atrioventricular defect-blepharophimosis-radial and anal defect syndrome"
},
{
"code": "1354",
"display": "Heart defects-limb shortening syndrome"
},
{
"code": "1355",
"display": "Congenital heart defect-round face-developmental delay syndrome"
},
{
"code": "1358",
"display": "Carey-Fineman-Ziter syndrome"
},
{
"code": "1359",
"display": "Carney complex"
},
{
"code": "1361",
"display": "Carnosinase deficiency"
},
{
"code": "1366",
"display": "Autosomal recessive palmoplantar keratoderma and congenital alopecia"
},
{
"code": "1368",
"display": "Cataract-ataxia-deafness syndrome"
},
{
"code": "1369",
"display": "Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome"
},
{
"code": "1373",
"display": "Cataract-aberrant oral frenula-growth delay syndrome"
},
{
"code": "1375",
"display": "Cataract-hypertrichosis-intellectual disability syndrome"
},
{
"code": "1377",
"display": "Cataract-microcornea syndrome"
},
{
"code": "1380",
"display": "Cataract-nephropathy-encephalopathy syndrome"
},
{
"code": "1381",
"display": "Cataract-intellectual disability-anal atresia-urinary defects syndrome"
},
{
"code": "1383",
"display": "Cataract-deafness-hypogonadism syndrome"
},
{
"code": "1387",
"display": "Cataract-intellectual disability-hypogonadism syndrome"
},
{
"code": "1388",
"display": "Catel-Manzke syndrome"
},
{
"code": "1389",
"display": "Cortical blindness-intellectual disability-polydactyly syndrome"
},
{
"code": "1390",
"display": "Night blindness-skeletal anomalies-dysmorphism syndrome"
},
{
"code": "1393",
"display": "Cerebrocostomandibular syndrome"
},
{
"code": "1394",
"display": "Cerebrofaciothoracic dysplasia"
},
{
"code": "1397",
"display": "Hydrocephaly-cerebellar agenesis syndrome"
},
{
"code": "1398",
"display": "Isolated cerebellar agenesis"
},
{
"code": "1399",
"display": "Richards-Rundle syndrome"
},
{
"code": "1401",
"display": "CHAND syndrome"
},
{
"code": "1406",
"display": "Charlie M syndrome"
},
{
"code": "1410",
"display": "Uncombable hair syndrome"
},
{
"code": "1412",
"display": "Tarsal-carpal coalition syndrome"
},
{
"code": "1414",
"display": "Cholestasis-lymphedema syndrome"
},
{
"code": "1415",
"display": "Hardikar syndrome"
},
{
"code": "1416",
"display": "Familial calcium pyrophosphate deposition"
},
{
"code": "1422",
"display": "Chondrodysplasia-difference of sex development syndrome"
},
{
"code": "1423",
"display": "Lethal recessive chondrodysplasia"
},
{
"code": "1425",
"display": "Desbuquois syndrome"
},
{
"code": "1426",
"display": "Greenberg dysplasia"
},
{
"code": "1427",
"display": "Otospondylomegaepiphyseal dysplasia"
},
{
"code": "1429",
"display": "Benign hereditary chorea"
},
{
"code": "1433",
"display": "Choroidal atrophy-alopecia syndrome"
},
{
"code": "1435",
"display": "Xq21 microdeletion syndrome"
},
{
"code": "1436",
"display": "X-linked skeletal dysplasia-intellectual disability syndrome"
},
{
"code": "1437",
"display": "Ring chromosome 1 syndrome"
},
{
"code": "1438",
"display": "Ring chromosome 10 syndrome"
},
{
"code": "1439",
"display": "Ring chromosome 12 syndrome"
},
{
"code": "1440",
"display": "Ring chromosome 14 syndrome"
},
{
"code": "1441",
"display": "Ring chromosome 17 syndrome"
},
{
"code": "1442",
"display": "Ring chromosome 18 syndrome"
},
{
"code": "1443",
"display": "Ring chromosome 19 syndrome"
},
{
"code": "1444",
"display": "Ring chromosome 20 syndrome"
},
{
"code": "1445",
"display": "Ring chromosome 21 syndrome"
},
{
"code": "1446",
"display": "Ring chromosome 22 syndrome"
},
{
"code": "1447",
"display": "Ring chromosome 4 syndrome"
},
{
"code": "1448",
"display": "Ring chromosome 6 syndrome"
},
{
"code": "1449",
"display": "Ring chromosome 7 syndrome"
},
{
"code": "1450",
"display": "Ring chromosome 8 syndrome"
},
{
"code": "1451",
"display": "CINCA syndrome"
},
{
"code": "1452",
"display": "Cleidocranial dysplasia"
},
{
"code": "1453",
"display": "Cleidorhizomelic syndrome"
},
{
"code": "1454",
"display": "Joubert syndrome with hepatic defect"
},
{
"code": "1456",
"display": "Middle aortic syndrome"
},
{
"code": "1457",
"display": "Aorta coarctation"
},
{
"code": "1458",
"display": "CODAS syndrome"
},
{
"code": "1459",
"display": "Celiac disease-epilepsy-cerebral calcification syndrome"
},
{
"code": "1460",
"display": "Isolated complex III deficiency"
},
{
"code": "1461",
"display": "Criss-cross heart"
},
{
"code": "1464",
"display": "Univentricular heart"
},
{
"code": "1465",
"display": "Coffin-Siris syndrome"
},
{
"code": "1466",
"display": "COFS syndrome"
},
{
"code": "1467",
"display": "Cogan syndrome"
},
{
"code": "1471",
"display": "Coloboma of macula-brachydactyly type B syndrome"
},
{
"code": "1473",
"display": "Uveal coloboma-cleft lip and palate-intellectual disability"
},
{
"code": "1475",
"display": "Renal coloboma syndrome"
},
{
"code": "1478",
"display": "Interatrial communication"
},
{
"code": "1479",
"display": "Atrial septal defect-atrioventricular conduction defects syndrome"
},
{
"code": "1482",
"display": "Gonococcal conjunctivitis"
},
{
"code": "1484",
"display": "Contractures-ectodermal dysplasia-cleft lip/palate syndrome"
},
{
"code": "1485",
"display": "Arthrogryposis-hyperkeratosis syndrome, lethal form"
},
{
"code": "1486",
"display": "Lethal congenital contracture syndrome type 1"
},
{
"code": "1487",
"display": "Cooks syndrome"
},
{
"code": "1488",
"display": "Cooper-Jabs syndrome"
},
{
"code": "1489",
"display": "Whooping cough"
},
{
"code": "1490",
"display": "Corneal dystrophy-perceptive deafness syndrome"
},
{
"code": "1493",
"display": "Vici syndrome"
},
{
"code": "1495",
"display": "Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome"
},
{
"code": "1496",
"display": "Corpus callosum agenesis-neuronopathy syndrome"
},
{
"code": "1497",
"display": "X-linked complicated corpus callosum dysgenesis"
},
{
"code": "1501",
"display": "Adrenocortical carcinoma"
},
{
"code": "1506",
"display": "Thin ribs-tubular bones-dysmorphism syndrome"
},
{
"code": "1507",
"display": "Autosomal recessive Robinow syndrome"
},
{
"code": "1508",
"display": "Coxoauricular syndrome"
},
{
"code": "1509",
"display": "Coxopodopatellar syndrome"
},
{
"code": "1512",
"display": "Crane-Heise syndrome"
},
{
"code": "1513",
"display": "Craniodiaphyseal dysplasia"
},
{
"code": "1514",
"display": "Craniodigital-intellectual disability syndrome"
},
{
"code": "1515",
"display": "Cranioectodermal dysplasia"
},
{
"code": "1516",
"display": "Non-syndromic bilambdoid and sagittal craniosynostosis"
},
{
"code": "1517",
"display": "Cantú syndrome"
},
{
"code": "1519",
"display": "SPECC1L-related hypertelorism syndrome"
},
{
"code": "1520",
"display": "Craniofrontonasal dysplasia"
},
{
"code": "1521",
"display": "Craniofrontonasal dysplasia-Poland anomaly syndrome"
},
{
"code": "1522",
"display": "Craniometaphyseal dysplasia"
},
{
"code": "1524",
"display": "Craniomicromelic syndrome"
},
{
"code": "1525",
"display": "Cranio-osteoarthropathy"
},
{
"code": "1527",
"display": "Craniosynostosis, Philadelphia type"
},
{
"code": "1528",
"display": "Craniotelencephalic dysplasia"
},
{
"code": "1529",
"display": "Craniofacial-deafness-hand syndrome"
},
{
"code": "1532",
"display": "Gómez-López-Hernández syndrome"
},
{
"code": "1538",
"display": "Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome"
},
{
"code": "1540",
"display": "Jackson-Weiss syndrome"
},
{
"code": "1541",
"display": "Craniosynostosis, Boston type"
},
{
"code": "1544",
"display": "Benign focal seizures of adolescence"
},
{
"code": "1545",
"display": "Crisponi syndrome"
},
{
"code": "1546",
"display": "Cryptococcosis"
},
{
"code": "1547",
"display": "Cryptomicrotia-brachydactyly-excess fingertip arch syndrome"
},
{
"code": "1548",
"display": "Cryptorchidism-arachnodactyly-intellectual disability syndrome"
},
{
"code": "1551",
"display": "Familial benign copper deficiency"
},
{
"code": "1552",
"display": "Currarino syndrome"
},
{
"code": "1553",
"display": "Curry-Jones syndrome"
},
{
"code": "1555",
"display": "Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome"
},
{
"code": "1556",
"display": "Cutis marmorata telangiectatica congenita"
},
{
"code": "1560",
"display": "Cysticercosis"
},
{
"code": "1561",
"display": "Fatal infantile cytochrome C oxidase deficiency"
},
{
"code": "1563",
"display": "Dahlberg-Borer-Newcomer syndrome"
},
{
"code": "1566",
"display": "Dandy-Walker malformation-postaxial polydactyly syndrome"
},
{
"code": "1568",
"display": "X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome"
},
{
"code": "1570",
"display": "Symbrachydactyly of hands and feet"
},
{
"code": "1571",
"display": "Knobloch syndrome"
},
{
"code": "1572",
"display": "Common variable immunodeficiency"
},
{
"code": "1573",
"display": "Hypotrichosis with juvenile macular degeneration"
},
{
"code": "1574",
"display": "Retinal degeneration-nanophthalmos-glaucoma syndrome"
},
{
"code": "1578",
"display": "Pterin-4 alpha-carbinolamine dehydratase deficiency"
},
{
"code": "1580",
"display": "Distal deletion 10p"
},
{
"code": "1581",
"display": "Non-distal deletion 10q"
},
{
"code": "1587",
"display": "Monosomy 13q14"
},
{
"code": "1590",
"display": "Distal deletion 13q"
},
{
"code": "1596",
"display": "Distal deletion 15q"
},
{
"code": "1597",
"display": "Distal deletion 17q"
},
{
"code": "1598",
"display": "Monosomy 18p"
},
{
"code": "1600",
"display": "Monosomy 18q"
},
{
"code": "1606",
"display": "1p36 deletion syndrome"
},
{
"code": "1617",
"display": "Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion"
},
{
"code": "1620",
"display": "Distal deletion 3p"
},
{
"code": "1621",
"display": "3q13 microdeletion syndrome"
},
{
"code": "1627",
"display": "Deletion 5q35"
},
{
"code": "1636",
"display": "Distal monosomy 7q36"
},
{
"code": "1642",
"display": "Distal deletion 9p"
},
{
"code": "1643",
"display": "Xp22.3 microdeletion syndrome"
},
{
"code": "1646",
"display": "Chromosome Y microdeletion"
},
{
"code": "1647",
"display": "Oculocerebrocutaneous syndrome"
},
{
"code": "1652",
"display": "Dent disease"
},
{
"code": "1653",
"display": "Dentin dysplasia"
},
{
"code": "1655",
"display": "Müllerian derivatives-lymphangiectasia-polydactyly syndrome"
},
{
"code": "1656",
"display": "Dermatitis herpetiformis"
},
{
"code": "1657",
"display": "Dermatoosteolysis, Kirghizian type"
},
{
"code": "1658",
"display": "Absence of fingerprints-congenital milia syndrome"
},
{
"code": "1659",
"display": "Dermatoleukodystrophy"
},
{
"code": "1660",
"display": "Dermoodontodysplasia"
},
{
"code": "1661",
"display": "X-linked corneal dermoid"
},
{
"code": "1662",
"display": "Restrictive dermopathy"
},
{
"code": "1665",
"display": "Sporadic fetal brain disruption sequence"
},
{
"code": "1666",
"display": "Dextrocardia"
},
{
"code": "1667",
"display": "Wolcott-Rallison syndrome"
},
{
"code": "1670",
"display": "Chronic diarrhea with villous atrophy"
},
{
"code": "1671",
"display": "Split cord malformation type I"
},
{
"code": "1672",
"display": "Diencephalic syndrome"
},
{
"code": "1675",
"display": "Dihydropyrimidine dehydrogenase deficiency"
},
{
"code": "1676",
"display": "Idiopathic pulmonary artery dilatation"
},
{
"code": "1677",
"display": "Familial idiopathic dilatation of the right atrium"
},
{
"code": "1679",
"display": "Diphtheria"
},
{
"code": "1681",
"display": "Diprosopus"
},
{
"code": "1682",
"display": "Arterial dissection-lentiginosis syndrome"
},
{
"code": "1686",
"display": "Cardiac diverticulum"
},
{
"code": "1692",
"display": "Mosaic trisomy 1"
},
{
"code": "1695",
"display": "Non-distal duplication 10q"
},
{
"code": "1698",
"display": "Mosaic trisomy 12"
},
{
"code": "1699",
"display": "Trisomy 12p"
},
{
"code": "1702",
"display": "Non-distal duplication 13q"
},
{
"code": "1703",
"display": "Mosaic trisomy 14"
},
{
"code": "1705",
"display": "Distal duplication 14q"
},
{
"code": "1706",
"display": "Mosaic trisomy 15"
},
{
"code": "1707",
"display": "Distal duplication 15q"
},
{
"code": "1708",
"display": "Mosaic trisomy 16"
},
{
"code": "1711",
"display": "Mosaic trisomy 17"
},
{
"code": "1713",
"display": "17p11.2 microduplication syndrome"
},
{
"code": "1715",
"display": "Trisomy 18p"
},
{
"code": "1716",
"display": "Distal duplication 18q"
},
{
"code": "1717",
"display": "Distal duplication 19q"
},
{
"code": "1723",
"display": "Mosaic trisomy 2"
},
{
"code": "1724",
"display": "Mosaic trisomy 20"
},
{
"code": "1727",
"display": "22q11.2 duplication syndrome"
},
{
"code": "1738",
"display": "Trisomy 4p"
},
{
"code": "1742",
"display": "Trisomy 5p"
},
{
"code": "1745",
"display": "Distal duplication 6p"
},
{
"code": "1747",
"display": "Mosaic trisomy 7"
},
{
"code": "1752",
"display": "Trisomy 8q"
},
{
"code": "1756",
"display": "Caudal duplication"
},
{
"code": "1757",
"display": "Fibular dimelia-diplopodia syndrome"
},
{
"code": "1759",
"display": "Thoraco-abdominal enteric duplication"
},
{
"code": "1762",
"display": "Proximal Xq28 duplication syndrome"
},
{
"code": "1764",
"display": "Familial dysautonomia"
},
{
"code": "1766",
"display": "Dysequilibrium syndrome"
},
{
"code": "1768",
"display": "Familial caudal dysgenesis"
},
{
"code": "1770",
"display": "XY type gonadal dysgenesis-associated anomalies syndrome"
},
{
"code": "1772",
"display": "45,X/46,XY mixed gonadal dysgenesis"
},
{
"code": "1775",
"display": "Dyskeratosis congenita"
},
{
"code": "1777",
"display": "Temtamy syndrome"
},
{
"code": "1778",
"display": "Facial dysmorphism-shawl scrotum-joint laxity syndrome"
},
{
"code": "1779",
"display": "Dysmorphism-cleft palate-loose skin syndrome"
},
{
"code": "1780",
"display": "Thakker-Donnai syndrome"
},
{
"code": "1782",
"display": "Dysosteosclerosis"
},
{
"code": "1784",
"display": "Acrofrontofacionasal dysostosis"
},
{
"code": "1786",
"display": "Acrofacial dysostosis, Catania type"
},
{
"code": "1787",
"display": "Acrofacial dysostosis, Palagonia type"
},
{
"code": "1788",
"display": "Acrofacial dysostosis, Rodríguez type"
},
{
"code": "1790",
"display": "Hypomandibular faciocranial dysostosis"
},
{
"code": "1791",
"display": "Frontofacionasal dysplasia"
},
{
"code": "1794",
"display": "Oculomaxillofacial dysostosis"
},
{
"code": "1797",
"display": "Autosomal dominant spondylocostal dysostosis"
},
{
"code": "1798",
"display": "Craniofacial dysostosis-diaphyseal hyperplasia syndrome"
},
{
"code": "1799",
"display": "Familial developmental dysphasia"
},
{
"code": "1801",
"display": "Kyphomelic dysplasia"
},
{
"code": "1802",
"display": "Ghosal hematodiaphyseal dysplasia"
},
{
"code": "1803",
"display": "Thoracomelic dysplasia"
},
{
"code": "1806",
"display": "Ectodermal dysplasia-blindness syndrome"
},
{
"code": "1807",
"display": "Focal facial dermal dysplasia type III"
},
{
"code": "1808",
"display": "Hidrotic ectodermal dysplasia, Christianson-Fourie type"
},
{
"code": "1809",
"display": "Hidrotic ectodermal dysplasia, Halal type"
},
{
"code": "1810",
"display": "Autosomal dominant hypohidrotic ectodermal dysplasia"
},
{
"code": "1811",
"display": "Odontomicronychial dysplasia"
},
{
"code": "1812",
"display": "Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome"
},
{
"code": "1816",
"display": "Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome"
},
{
"code": "1818",
"display": "Ectodermal dysplasia, trichoodontoonychial type"
},
{
"code": "1822",
"display": "Dysplasia epiphysealis hemimelica"
},
{
"code": "1824",
"display": "Lowry-Wood syndrome"
},
{
"code": "1825",
"display": "Epiphyseal dysplasia-hearing loss-dysmorphism syndrome"
},
{
"code": "1826",
"display": "Frontometaphyseal dysplasia"
},
{
"code": "1827",
"display": "Acromelic frontonasal dysplasia"
},
{
"code": "1830",
"display": "Schimke immuno-osseous dysplasia"
},
{
"code": "1832",
"display": "Osteosclerotic bone dysplasia"
},
{
"code": "1834",
"display": "Axial mesodermal dysplasia spectrum"
},
{
"code": "1836",
"display": "Mesomelic dysplasia, Kantaputra type"
},
{
"code": "1837",
"display": "Metaphyseal chondrodysplasia, Rosenberg type"
},
{
"code": "1839",
"display": "Hereditary mucoepithelial dysplasia"
},
{
"code": "1842",
"display": "Bone dysplasia, lethal Holmgren type"
},
{
"code": "1848",
"display": "Renal agenesis, bilateral"
},
{
"code": "1851",
"display": "Multicystic dysplastic kidney"
},
{
"code": "1852",
"display": "X-linked retinal dysplasia"
},
{
"code": "1855",
"display": "Spondyloenchondrodysplasia"
},
{
"code": "1856",
"display": "Spondyloperipheral dysplasia-short ulna syndrome"
},
{
"code": "1858",
"display": "Skeletal dysplasia-epilepsy-short stature syndrome"
},
{
"code": "1860",
"display": "Thanatophoric dysplasia type 1"
},
{
"code": "1861",
"display": "Thoracic dysplasia-hydrocephalus syndrome"
},
{
"code": "1865",
"display": "Dyssegmental dysplasia, Silverman-Handmaker type"
},
{
"code": "1867",
"display": "Hereditary bullous dystrophy, macular type"
},
{
"code": "1871",
"display": "Progressive cone dystrophy"
},
{
"code": "1872",
"display": "Cone rod dystrophy"
},
{
"code": "1873",
"display": "Jalili syndrome"
},
{
"code": "1875",
"display": "Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome"
},
{
"code": "1876",
"display": "Oculogastrointestinal muscular dystrophy"
},
{
"code": "1878",
"display": "TRIM32-related limb-girdle muscular dystrophy R8"
},
{
"code": "1879",
"display": "Melorheostosis with osteopoikilosis"
},
{
"code": "1880",
"display": "Ebstein malformation of the tricuspid valve"
},
{
"code": "1882",
"display": "Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome"
},
{
"code": "1883",
"display": "Ectodermal dysplasia-sensorineural deafness syndrome"
},
{
"code": "1884",
"display": "Ectopia lentis-chorioretinal dystrophy-myopia syndrome"
},
{
"code": "1885",
"display": "Isolated ectopia lentis"
},
{
"code": "1891",
"display": "Intellectual disability-spasticity-ectrodactyly syndrome"
},
{
"code": "1892",
"display": "Ectrodactyly-polydactyly syndrome"
},
{
"code": "1895",
"display": "Edinburgh malformation syndrome"
},
{
"code": "1896",
"display": "EEC syndrome"
},
{
"code": "1897",
"display": "EEM syndrome"
},
{
"code": "1899",
"display": "Arthrochalasia Ehlers-Danlos syndrome"
},
{
"code": "1900",
"display": "Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency"
},
{
"code": "1901",
"display": "Dermatosparaxis Ehlers-Danlos syndrome"
},
{
"code": "1902",
"display": "Ehrlichiosis"
},
{
"code": "1906",
"display": "Fetal valproate spectrum disorder"
},
{
"code": "1908",
"display": "Aminopterin/methotrexate embryofetopathy"
},
{
"code": "1909",
"display": "Indomethacin embryofetopathy"
},
{
"code": "1910",
"display": "Fetal iodine syndrome"
},
{
"code": "1911",
"display": "Cocaine embryofetopathy"
},
{
"code": "1912",
"display": "Fetal hydantoin syndrome"
},
{
"code": "1913",
"display": "Fetal trimethadione syndrome"
},
{
"code": "1914",
"display": "Vitamin K antagonist embryofetopathy"
},
{
"code": "1915",
"display": "Fetal alcohol syndrome"
},
{
"code": "1916",
"display": "Diethylstilbestrol syndrome"
},
{
"code": "1917",
"display": "Fetal methylmercury syndrome"
},
{
"code": "1918",
"display": "Fetal minoxidil syndrome"
},
{
"code": "1919",
"display": "Phenobarbital embryopathy"
},
{
"code": "1920",
"display": "Toluene embryopathy"
},
{
"code": "1923",
"display": "Methimazole embryofetopathy"
},
{
"code": "1926",
"display": "Diabetic embryopathy"
},
{
"code": "1927",
"display": "Emery-Nelson syndrome"
},
{
"code": "1928",
"display": "Congenital lobar emphysema"
},
{
"code": "1929",
"display": "Rasmussen subacute encephalitis"
},
{
"code": "1930",
"display": "Herpes simplex virus encephalitis"
},
{
"code": "1931",
"display": "Frontal encephalocele"
},
{
"code": "1933",
"display": "Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria"
},
{
"code": "1934",
"display": "Early infantile epileptic encephalopathy"
},
{
"code": "1935",
"display": "Early myoclonic encephalopathy"
},
{
"code": "1937",
"display": "Eng-Strom syndrome"
},
{
"code": "1941",
"display": "Juvenile absence epilepsy"
},
{
"code": "1942",
"display": "Myoclonic-astatic epilepsy"
},
{
"code": "1943",
"display": "Early-onset progressive encephalopathy with migrant continuous myoclonus"
},
{
"code": "1945",
"display": "Rolandic epilepsy"
},
{
"code": "1946",
"display": "Amelocerebrohypohidrotic syndrome"
},
{
"code": "1947",
"display": "Progressive epilepsy-intellectual disability syndrome, Finnish type"
},
{
"code": "1948",
"display": "Epilepsy-microcephaly-skeletal dysplasia syndrome"
},
{
"code": "1949",
"display": "Benign familial neonatal epilepsy"
},
{
"code": "1951",
"display": "Epilepsy-telangiectasia syndrome"
},
{
"code": "1952",
"display": "Epiphyseal stippling-osteoclastic hyperplasia syndrome"
},
{
"code": "1954",
"display": "Congenital lethal erythroderma"
},
{
"code": "1955",
"display": "Spinocerebellar ataxia type 34"
},
{
"code": "1957",
"display": "Esthesioneuroblastoma"
},
{
"code": "1959",
"display": "Evans syndrome"
},
{
"code": "1962",
"display": "Exostoses-anetodermia-brachydactyly type E syndrome"
},
{
"code": "1964",
"display": "Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome"
},
{
"code": "1968",
"display": "Flat face-microstomia-ear anomaly syndrome"
},
{
"code": "1969",
"display": "Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome"
},
{
"code": "1970",
"display": "Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome"
},
{
"code": "1972",
"display": "Lethal faciocardiomelic dysplasia"
},
{
"code": "1973",
"display": "Faciocardiorenal syndrome"
},
{
"code": "1974",
"display": "Autosomal recessive faciodigitogenital syndrome"
},
{
"code": "1979",
"display": "Lipodystrophy due to peptidic growth factors deficiency"
},
{
"code": "1980",
"display": "Bilateral striopallidodentate calcinosis"
},
{
"code": "1986",
"display": "Gollop-Wolfgang complex"
},
{
"code": "1987",
"display": "Isolated femoral agenesis/hypoplasia"
},
{
"code": "1988",
"display": "Femoral-facial syndrome"
},
{
"code": "1993",
"display": "Pai syndrome"
},
{
"code": "1995",
"display": "Cleft lip-retinopathy syndrome"
},
{
"code": "1997",
"display": "Blepharo-cheilo-odontic syndrome"
},
{
"code": "2001",
"display": "Cleft lip/palate-intestinal malrotation-cardiopathy syndrome"
},
{
"code": "2003",
"display": "Cleft lip/palate-deafness-sacral lipoma syndrome"
},
{
"code": "2004",
"display": "Laryngotracheoesophageal cleft"
},
{
"code": "2006",
"display": "Median cleft lip/mandible"
},
{
"code": "2007",
"display": "Alar cartilages hypoplasia-coloboma-telecanthus syndrome"
},
{
"code": "2008",
"display": "Acrocardiofacial syndrome"
},
{
"code": "2010",
"display": "Cleft palate-stapes fixation-oligodontia syndrome"
},
{
"code": "2013",
"display": "Cleft palate-large ears-small head syndrome"
},
{
"code": "2015",
"display": "Cleft palate-short stature-vertebral anomalies syndrome"
},
{
"code": "2016",
"display": "Cleft palate-lateral synechia syndrome"
},
{
"code": "2017",
"display": "Sternal cleft"
},
{
"code": "2019",
"display": "Femur-fibula-ulna complex"
},
{
"code": "2020",
"display": "Congenital fiber-type disproportion myopathy"
},
{
"code": "2021",
"display": "Fibrochondrogenesis"
},
{
"code": "2022",
"display": "Endocardial fibroelastosis"
},
{
"code": "2023",
"display": "Undifferentiated pleomorphic sarcoma"
},
{
"code": "2024",
"display": "Hereditary gingival fibromatosis"
},
{
"code": "2025",
"display": "Gingival fibromatosis-facial dysmorphism syndrome"
},
{
"code": "2026",
"display": "Gingival fibromatosis-hypertrichosis syndrome"
},
{
"code": "2027",
"display": "Gingival fibromatosis-progressive deafness syndrome"
},
{
"code": "2028",
"display": "Juvenile hyaline fibromatosis"
},
{
"code": "2030",
"display": "Fibrosarcoma"
},
{
"code": "2031",
"display": "Hepatic fibrosis-renal cysts-intellectual disability syndrome"
},
{
"code": "2032",
"display": "Idiopathic pulmonary fibrosis"
},
{
"code": "2035",
"display": "Lymphatic filariasis"
},
{
"code": "2036",
"display": "Scalp-ear-nipple syndrome"
},
{
"code": "2037",
"display": "Congenital aortopulmonary window"
},
{
"code": "2038",
"display": "Pulmonary arteriovenous malformation"
},
{
"code": "2039",
"display": "Congenital systemic arteriovenous fistula"
},
{
"code": "2040",
"display": "Congenital respiratory-biliary fistula"
},
{
"code": "2041",
"display": "Coronary arterial fistula"
},
{
"code": "2044",
"display": "Floating-Harbor syndrome"
},
{
"code": "2045",
"display": "FLOTCH syndrome"
},
{
"code": "2047",
"display": "Flynn-Aird syndrome"
},
{
"code": "2048",
"display": "Foix-Chavany-Marie syndrome"
},
{
"code": "2050",
"display": "Cole-Carpenter syndrome"
},
{
"code": "2052",
"display": "Fraser syndrome"
},
{
"code": "2053",
"display": "Freeman-Sheldon syndrome"
},
{
"code": "2056",
"display": "Essential fructosuria"
},
{
"code": "2057",
"display": "Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome"
},
{
"code": "2058",
"display": "Fryns-Smeets-Thiry syndrome"
},
{
"code": "2059",
"display": "Fryns syndrome"
},
{
"code": "2062",
"display": "Progressive non-infectious anterior vertebral fusion"
},
{
"code": "2063",
"display": "Splenogonadal fusion-limb defects-micrognathia syndrome"
},
{
"code": "2064",
"display": "Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome"
},
{
"code": "2065",
"display": "Galloway-Mowat syndrome"
},
{
"code": "2066",
"display": "Gamma-aminobutyric acid transaminase deficiency"
},
{
"code": "2067",
"display": "GAPO syndrome"
},
{
"code": "2069",
"display": "Gastrocutaneous syndrome"
},
{
"code": "2070",
"display": "Eosinophilic gastroenteritis"
},
{
"code": "2072",
"display": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome"
},
{
"code": "2073",
"display": "Narcolepsy type 1"
},
{
"code": "2074",
"display": "Gemignani syndrome"
},
{
"code": "2075",
"display": "Genitopalatocardiac syndrome"
},
{
"code": "2077",
"display": "German syndrome"
},
{
"code": "2078",
"display": "Geroderma osteodysplastica"
},
{
"code": "2083",
"display": "Prominent glabella-microcephaly-hypogenitalism syndrome"
},
{
"code": "2084",
"display": "Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome"
},
{
"code": "2085",
"display": "Glaucoma-sleep apnea syndrome"
},
{
"code": "2086",
"display": "Optic pathway glioma"
},
{
"code": "2088",
"display": "Fanconi-Bickel syndrome"
},
{
"code": "2089",
"display": "Glycogen storage disease due to hepatic glycogen synthase deficiency"
},
{
"code": "2090",
"display": "GMS syndrome"
},
{
"code": "2091",
"display": "Multinodular goiter-cystic kidney-polydactyly syndrome"
},
{
"code": "2092",
"display": "Focal dermal hypoplasia"
},
{
"code": "2095",
"display": "Gorlin-Chaudhry-Moss syndrome"
},
{
"code": "2097",
"display": "Grant syndrome"
},
{
"code": "2098",
"display": "Acromesomelic dysplasia, Grebe type"
},
{
"code": "2101",
"display": "Grubben-de Cock-Borghgraef syndrome"
},
{
"code": "2102",
"display": "GTP cyclohydrolase I deficiency"
},
{
"code": "2104",
"display": "Dysmorphism-pectus carinatum-joint laxity syndrome"
},
{
"code": "2107",
"display": "Hall-Riggs syndrome"
},
{
"code": "2108",
"display": "Hallermann-Streiff syndrome"
},
{
"code": "2109",
"display": "Hallermann-Streiff-like syndrome"
},
{
"code": "2110",
"display": "Hallux varus-preaxial polysyndactyly syndrome"
},
{
"code": "2111",
"display": "Cystic hamartoma of lung and kidney"
},
{
"code": "2114",
"display": "Hip dysplasia, Beukes type"
},
{
"code": "2115",
"display": "Harrod syndrome"
},
{
"code": "2116",
"display": "Hartnup disease"
},
{
"code": "2117",
"display": "Hartsfield syndrome"
},
{
"code": "2118",
"display": "Hawkinsinuria"
},
{
"code": "2119",
"display": "HEC syndrome"
},
{
"code": "2122",
"display": "Kaposiform hemangioendothelioma"
},
{
"code": "2123",
"display": "Multifocal infantile hemangioma with extracutenous involvement"
},
{
"code": "2126",
"display": "Solitary fibrous tumor"
},
{
"code": "2128",
"display": "Isolated hemihyperplasia"
},
{
"code": "2131",
"display": "Alternating hemiplegia of childhood"
},
{
"code": "2132",
"display": "Hemoglobin C disease"
},
{
"code": "2133",
"display": "Hemoglobin E disease"
},
{
"code": "2134",
"display": "Atypical hemolytic uremic syndrome"
},
{
"code": "2135",
"display": "Hennekam-Beemer syndrome"
},
{
"code": "2136",
"display": "Hennekam syndrome"
},
{
"code": "2137",
"display": "Autoimmune hepatitis"
},
{
"code": "2138",
"display": "46,XX ovotesticular difference of sex development"
},
{
"code": "2139",
"display": "Hernández-Aguirre Negrete syndrome"
},
{
"code": "2140",
"display": "Congenital diaphragmatic hernia"
},
{
"code": "2141",
"display": "Diaphragmatic defect-limb deficiency-skull defect syndrome"
},
{
"code": "2143",
"display": "Donnai-Barrow syndrome"
},
{
"code": "2145",
"display": "Craniosynostosis, Herrmann-Opitz type"
},
{
"code": "2148",
"display": "Lissencephaly type 1 due to doublecortin gene mutation"
},
{
"code": "2149",
"display": "Nodular neuronal heterotopia"
},
{
"code": "2150",
"display": "Hirschsprung disease-type D brachydactyly syndrome"
},
{
"code": "2151",
"display": "Hirschsprung disease-ganglioneuroblastoma syndrome"
},
{
"code": "2152",
"display": "Mowat-Wilson syndrome"
},
{
"code": "2153",
"display": "Hirschsprung disease-nail hypoplasia-dysmorphism syndrome"
},
{
"code": "2155",
"display": "Hirschsprung disease-deafness-polydactyly syndrome"
},
{
"code": "2157",
"display": "Histidinemia"
},
{
"code": "2158",
"display": "Histidinuria-renal tubular defect syndrome"
},
{
"code": "2162",
"display": "Holoprosencephaly"
},
{
"code": "2163",
"display": "Holoprosencephaly-craniosynostosis syndrome"
},
{
"code": "2165",
"display": "Holoprosencephaly-caudal dysgenesis syndrome"
},
{
"code": "2166",
"display": "Holoprosencephaly-postaxial polydactyly syndrome"
},
{
"code": "2167",
"display": "Holzgreve syndrome"
},
{
"code": "2169",
"display": "Methylcobalamin deficiency type cblE"
},
{
"code": "2170",
"display": "Methylcobalamin deficiency type cblG"
},
{
"code": "2172",
"display": "Microcephaly-glomerulonephritis-marfanoid habitus syndrome"
},
{
"code": "2176",
"display": "Infantile systemic hyalinosis"
},
{
"code": "2177",
"display": "Hydranencephaly"
},
{
"code": "2180",
"display": "Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome"
},
{
"code": "2181",
"display": "Hydrocephaly-tall stature-joint laxity syndrome"
},
{
"code": "2182",
"display": "Hydrocephalus with stenosis of the aqueduct of Sylvius"
},
{
"code": "2183",
"display": "Hydrocephalus-obesity-hypogonadism syndrome"
},
{
"code": "2184",
"display": "Hydrocephaly-low insertion umbilicus syndrome"
},
{
"code": "2185",
"display": "Congenital hydrocephalus"
},
{
"code": "2186",
"display": "Hydrocephalus-blue sclerae-nephropathy syndrome"
},
{
"code": "2189",
"display": "Hydrolethalus"
},
{
"code": "2195",
"display": "Dicarboxylic aminoaciduria"
},
{
"code": "2196",
"display": "Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement"
},
{
"code": "2197",
"display": "Idiopathic hypercalciuria"
},
{
"code": "2198",
"display": "Palmoplantar keratoderma-esophageal carcinoma syndrome"
},
{
"code": "2199",
"display": "Epidermolytic palmoplantar keratoderma"
},
{
"code": "2200",
"display": "Focal palmoplantar and gingival keratoderma"
},
{
"code": "2201",
"display": "Palmoplantar keratoderma-spastic paralysis syndrome"
},
{
"code": "2202",
"display": "Palmoplantar keratoderma-deafness syndrome"
},
{
"code": "2203",
"display": "Hyperlysinemia"
},
{
"code": "2204",
"display": "Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type"
},
{
"code": "2206",
"display": "Ankylosing vertebral hyperostosis with tylosis"
},
{
"code": "2209",
"display": "Maternal phenylketonuria"
},
{
"code": "2211",
"display": "Hypertelorism-hypospadias-polysyndactyly syndrome"
},
{
"code": "2213",
"display": "Hypertelorism-microtia-facial clefting syndrome"
},
{
"code": "2215",
"display": "Multiple pterygium-malignant hyperthermia syndrome"
},
{
"code": "2216",
"display": "Maternal hyperthermia-induced birth defects"
},
{
"code": "2218",
"display": "Cervical hypertrichosis-peripheral neuropathy syndrome"
},
{
"code": "2220",
"display": "Hypertrichosis cubiti"
},
{
"code": "2221",
"display": "Acquired hypertrichosis lanuginosa"
},
{
"code": "2222",
"display": "Hypertrichosis lanuginosa congenita"
},
{
"code": "2224",
"display": "Hypertryptophanemia"
},
{
"code": "2228",
"display": "Hypodontia-dysplasia of nails syndrome"
},
{
"code": "2229",
"display": "Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome"
},
{
"code": "2230",
"display": "Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome"
},
{
"code": "2232",
"display": "Primary hypergonadotropic hypogonadism-partial alopecia syndrome"
},
{
"code": "2233",
"display": "Hypogonadism-mitral valve prolapse-intellectual disability syndrome"
},
{
"code": "2234",
"display": "Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome"
},
{
"code": "2235",
"display": "Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome"
},
{
"code": "2237",
"display": "Hypoparathyroidism-sensorineural deafness-renal disease syndrome"
},
{
"code": "2238",
"display": "Familial isolated hypoparathyroidism"
},
{
"code": "2239",
"display": "Familial isolated hypoparathyroidism due to agenesis of parathyroid gland"
},
{
"code": "2241",
"display": "Megacystis-microcolon-intestinal hypoperistalsis syndrome"
},
{
"code": "2246",
"display": "Cerebellar hypoplasia-tapetoretinal degeneration syndrome"
},
{
"code": "2248",
"display": "Hypoplastic left heart syndrome"
},
{
"code": "2249",
"display": "Ulna hypoplasia-intellectual disability syndrome"
},
{
"code": "2250",
"display": "Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome"
},
{
"code": "2251",
"display": "Thumb deformity-alopecia-pigmentation anomaly syndrome"
},
{
"code": "2252",
"display": "Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome"
},
{
"code": "2253",
"display": "Foveal hypoplasia-presenile cataract syndrome"
},
{
"code": "2254",
"display": "Pontocerebellar hypoplasia type 1"
},
{
"code": "2255",
"display": "Pancreatic hypoplasia-diabetes-congenital heart disease syndrome"
},
{
"code": "2256",
"display": "Fibulo-ulnar hypoplasia-renal anomalies syndrome"
},
{
"code": "2257",
"display": "Primary pulmonary hypoplasia"
},
{
"code": "2260",
"display": "Oligomeganephronia"
},
{
"code": "2261",
"display": "Hypospadias-intellectual disability, Goldblatt type syndrome"
},
{
"code": "2266",
"display": "Hypotrichosis-intellectual disability, Lopes type"
},
{
"code": "2268",
"display": "ICF syndrome"
},
{
"code": "2269",
"display": "Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome"
},
{
"code": "2271",
"display": "Congenital ichthyosis-microcephalus-tetraplegia syndrome"
},
{
"code": "2272",
"display": "Ichthyosis-oral and digital anomalies syndrome"
},
{
"code": "2273",
"display": "Ichthyosis follicularis-alopecia-photophobia syndrome"
},
{
"code": "2274",
"display": "Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome"
},
{
"code": "2278",
"display": "Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome"
},
{
"code": "2282",
"display": "Dysmorphism-short stature-deafness-difference of sex development syndrome"
},
{
"code": "2285",
"display": "Primary basilar invagination"
},
{
"code": "2287",
"display": "Fused mandibular incisors"
},
{
"code": "2289",
"display": "Neuronal intranuclear inclusion disease"
},
{
"code": "2290",
"display": "Microvillus inclusion disease"
},
{
"code": "2291",
"display": "Congenital velopharyngeal incompetence"
},
{
"code": "2295",
"display": "Familial articular hypermobility syndrome"
},
{
"code": "2297",
"display": "Insulin-resistance syndrome type A"
},
{
"code": "2298",
"display": "Insulin-resistance syndrome type B"
},
{
"code": "2299",
"display": "Aortic arch interruption"
},
{
"code": "2300",
"display": "Multiple intestinal atresia"
},
{
"code": "2301",
"display": "Congenital short bowel syndrome"
},
{
"code": "2302",
"display": "Asbestos intoxication"
},
{
"code": "2305",
"display": "Isotretinoin syndrome"
},
{
"code": "2306",
"display": "Isotretinoin-like syndrome"
},
{
"code": "2307",
"display": "IVIC syndrome"
},
{
"code": "2308",
"display": "Jacobsen syndrome"
},
{
"code": "2309",
"display": "Pachyonychia congenita"
},
{
"code": "2310",
"display": "Absence deformity of leg-cataract syndrome"
},
{
"code": "2311",
"display": "Autosomal recessive spondylocostal dysostosis"
},
{
"code": "2312",
"display": "Transient familial neonatal hyperbilirubinemia"
},
{
"code": "2314",
"display": "Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency"
},
{
"code": "2315",
"display": "Johanson-Blizzard syndrome"
},
{
"code": "2316",
"display": "Johnson neuroectodermal syndrome"
},
{
"code": "2318",
"display": "Joubert syndrome with oculorenal defect"
},
{
"code": "2319",
"display": "Juberg-Hayward syndrome"
},
{
"code": "2321",
"display": "Jung syndrome"
},
{
"code": "2322",
"display": "Kabuki syndrome"
},
{
"code": "2323",
"display": "Sanjad-Sakati syndrome"
},
{
"code": "2324",
"display": "Osteopenia-intellectual disability-sparse hair syndrome"
},
{
"code": "2325",
"display": "Epidermolysis bullosa simplex with anodontia/hypodontia"
},
{
"code": "2326",
"display": "Kallmann syndrome-heart disease syndrome"
},
{
"code": "2328",
"display": "Kapur-Toriello syndrome"
},
{
"code": "2329",
"display": "Karsch-Neugebauer syndrome"
},
{
"code": "2330",
"display": "Kasabach-Merritt phenomenon"
},
{
"code": "2331",
"display": "Kawasaki disease"
},
{
"code": "2332",
"display": "KBG syndrome"
},
{
"code": "2333",
"display": "Kenny-Caffey syndrome"
},
{
"code": "2334",
"display": "Autosomal dominant keratitis"
},
{
"code": "2337",
"display": "Diffuse palmoplantar keratoderma, Bothnian type"
},
{
"code": "2339",
"display": "Keratosis follicularis-dwarfism-cerebral atrophy syndrome"
},
{
"code": "2340",
"display": "Keratosis follicularis spinulosa decalvans"
},
{
"code": "2342",
"display": "Haim-Munk syndrome"
},
{
"code": "2345",
"display": "Isolated Klippel-Feil syndrome"
},
{
"code": "2347",
"display": "Lethal Kniest-like dysplasia"
},
{
"code": "2348",
"display": "Familial partial lipodystrophy, Dunnigan type"
},
{
"code": "2349",
"display": "Muscular pseudohypertrophy-hypothyroidism syndrome"
},
{
"code": "2351",
"display": "Kousseff syndrome"
},
{
"code": "2353",
"display": "Schilbach-Rott syndrome"
},
{
"code": "2356",
"display": "Arachnoid cyst"
},
{
"code": "2357",
"display": "Bronchogenic cyst"
},
{
"code": "2363",
"display": "Lacrimoauriculodentodigital syndrome"
},
{
"code": "2364",
"display": "Glycogen storage disease due to lactate dehydrogenase deficiency"
},
{
"code": "2368",
"display": "Gastroschisis"
},
{
"code": "2369",
"display": "Limb body wall complex"
},
{
"code": "2370",
"display": "Larsen-like osseous dysplasia-short stature syndrome"
},
{
"code": "2371",
"display": "Lethal Larsen-like syndrome"
},
{
"code": "2372",
"display": "Laryngocele"
},
{
"code": "2373",
"display": "Congenital laryngomalacia"
},
{
"code": "2374",
"display": "Isolated congenital laryngeal web"
},
{
"code": "2375",
"display": "Laryngeal abductor paralysis-intellectual disability syndrome"
},
{
"code": "2377",
"display": "Laurence-Moon syndrome"
},
{
"code": "2378",
"display": "Laurin-Sandrow syndrome"
},
{
"code": "2379",
"display": "Early-onset parkinsonism-intellectual disability syndrome"
},
{
"code": "2380",
"display": "Legg-Calvé-Perthes disease"
},
{
"code": "2382",
"display": "Lennox-Gastaut syndrome"
},
{
"code": "2386",
"display": "Leukoencephalopathy-palmoplantar keratoderma syndrome"
},
{
"code": "2387",
"display": "Leukonychia totalis"
},
{
"code": "2388",
"display": "Choreoacanthocytosis"
},
{
"code": "2390",
"display": "Lichtenstein syndrome"
},
{
"code": "2391",
"display": "Congenitally short costocoracoid ligament"
},
{
"code": "2394",
"display": "Pyruvate dehydrogenase E3 deficiency"
},
{
"code": "2396",
"display": "Encephalocraniocutaneous lipomatosis"
},
{
"code": "2398",
"display": "Multiple symmetric lipomatosis"
},
{
"code": "2399",
"display": "Nasopalpebral lipoma-coloboma syndrome"
},
{
"code": "2400",
"display": "Peripheral motor neuropathy-dysautonomia syndrome"
},
{
"code": "2404",
"display": "Loiasis"
},
{
"code": "2405",
"display": "Thickened earlobes-conductive deafness syndrome"
},
{
"code": "2406",
"display": "Locked-in syndrome"
},
{
"code": "2407",
"display": "Laryngo-onycho-cutaneous syndrome"
},
{
"code": "2408",
"display": "Lowe-Kohn-Cohen syndrome"
},
{
"code": "2409",
"display": "Lowry-MacLean syndrome"
},
{
"code": "2410",
"display": "Hypergonadotropic hypogonadism-cataract syndrome"
},
{
"code": "2412",
"display": "Dislocation of the hip-dysmorphism syndrome"
},
{
"code": "2414",
"display": "Congenital pulmonary lymphangiectasia"
},
{
"code": "2420",
"display": "Primary pulmonary lymphoma"
},
{
"code": "2427",
"display": "Macrocephaly-short stature-paraplegia syndrome"
},
{
"code": "2429",
"display": "Macrocephaly-spastic paraplegia-dysmorphism syndrome"
},
{
"code": "2430",
"display": "Congenital macroglossia"
},
{
"code": "2432",
"display": "Macrosomia-microphthalmia-cleft palate syndrome"
},
{
"code": "2435",
"display": "Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome"
},
{
"code": "2437",
"display": "Czeizel-Losonci syndrome"
},
{
"code": "2438",
"display": "Hand-foot-genital syndrome"
},
{
"code": "2439",
"display": "Patterson-Stevenson-Fontaine syndrome"
},
{
"code": "2440",
"display": "Isolated split hand-split foot malformation"
},
{
"code": "2444",
"display": "Congenital pulmonary airway malformation"
},
{
"code": "2451",
"display": "Mucocutaneous venous malformations"
},
{
"code": "2456",
"display": "Familial supernumerary nipples"
},
{
"code": "2457",
"display": "Mandibuloacral dysplasia"
},
{
"code": "2459",
"display": "Mansonelliasis"
},
{
"code": "2460",
"display": "Van den Ende-Gupta syndrome"
},
{
"code": "2461",
"display": "Marden-Walker syndrome"
},
{
"code": "2462",
"display": "Shprintzen-Goldberg syndrome"
},
{
"code": "2463",
"display": "Marfanoid habitus-autosomal recessive intellectual disability syndrome"
},
{
"code": "2464",
"display": "Marfanoid syndrome, De Silva type"
},
{
"code": "2466",
"display": "MASA syndrome"
},
{
"code": "2470",
"display": "Matthew-Wood syndrome"
},
{
"code": "2471",
"display": "McDonough syndrome"
},
{
"code": "2473",
"display": "McKusick-Kaufman syndrome"
},
{
"code": "2475",
"display": "White forelock with malformations"
},
{
"code": "2476",
"display": "Dysraphism-cleft lip/palate-limb reduction defects syndrome"
},
{
"code": "2477",
"display": "Megalencephaly"
},
{
"code": "2478",
"display": "Megalencephalic leukoencephalopathy with subcortical cysts"
},
{
"code": "2479",
"display": "Megalocornea-intellectual disability syndrome"
},
{
"code": "2481",
"display": "Neurocutaneous melanocytosis"
},
{
"code": "2482",
"display": "Melhem-Fahl syndrome"
},
{
"code": "2483",
"display": "Melkersson-Rosenthal syndrome"
},
{
"code": "2484",
"display": "Melnick-Needles syndrome"
},
{
"code": "2485",
"display": "Melorheostosis"
},
{
"code": "2487",
"display": "Lower limb malformation-hypospadias syndrome"
},
{
"code": "2489",
"display": "Upper limb defect-eye and ear abnormalities syndrome"
},
{
"code": "2491",
"display": "Müllerian duct anomalies-limb anomalies syndrome"
},
{
"code": "2492",
"display": "FATCO syndrome"
},
{
"code": "2494",
"display": "Ménétrier disease"
},
{
"code": "2495",
"display": "Meningioma"
},
{
"code": "2496",
"display": "Mesomelia-synostoses syndrome"
},
{
"code": "2497",
"display": "Upper limb mesomelic dysplasia, type Fryns"
},
{
"code": "2498",
"display": "Syndactyly type 8"
},
{
"code": "2499",
"display": "Metachondromatosis"
},
{
"code": "2500",
"display": "Acrogeria"
},
{
"code": "2501",
"display": "Metaphyseal chondrodysplasia, Spahr type"
},
{
"code": "2502",
"display": "Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome"
},
{
"code": "2504",
"display": "Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome"
},
{
"code": "2505",
"display": "Multiple benign circumferential skin creases on limbs"
},
{
"code": "2508",
"display": "Corpus callosum agenesis-abnormal genitalia syndrome"
},
{
"code": "2510",
"display": "Micro syndrome"
},
{
"code": "2511",
"display": "Microbrachycephaly-ptosis-cleft lip syndrome"
},
{
"code": "2512",
"display": "Autosomal recessive primary microcephaly"
},
{
"code": "2513",
"display": "Microcephaly-albinism-digital anomalies syndrome"
},
{
"code": "2514",
"display": "Autosomal dominant primary microcephaly"
},
{
"code": "2515",
"display": "Microcephaly-cardiomyopathy syndrome"
},
{
"code": "2516",
"display": "Microcephaly-cardiac defect-lung malsegmentation syndrome"
},
{
"code": "2518",
"display": "Autosomal recessive chorioretinopathy-microcephaly syndrome"
},
{
"code": "2519",
"display": "Microcephaly-seizures-intellectual disability-heart disease syndrome"
},
{
"code": "2521",
"display": "Microcephaly-cleft palate-abnormal retinal pigmentation syndrome"
},
{
"code": "2522",
"display": "Microcephaly-cervical spine fusion anomalies syndrome"
},
{
"code": "2523",
"display": "Microcephaly-brain defect-spasticity-hypernatremia syndrome"
},
{
"code": "2524",
"display": "Pontocerebellar hypoplasia type 2"
},
{
"code": "2526",
"display": "Microcephaly-lymphedema-chorioretinopathy syndrome"
},
{
"code": "2528",
"display": "Microcephaly-microcornea syndrome, Seemanova type"
},
{
"code": "2533",
"display": "Microcephaly-deafness-intellectual disability syndrome"
},
{
"code": "2536",
"display": "Microcornea-glaucoma-absent frontal sinuses syndrome"
},
{
"code": "2538",
"display": "Microgastria-limb reduction defect syndrome"
},
{
"code": "2547",
"display": "Microphthalmia-microtia-fetal akinesia syndrome"
},
{
"code": "2549",
"display": "Oculoauriculovertebral spectrum with radial defects"
},
{
"code": "2551",
"display": "Microspherophakia-metaphyseal dysplasia syndrome"
},
{
"code": "2552",
"display": "Microsporidiosis"
},
{
"code": "2554",
"display": "Ear-patella-short stature syndrome"
},
{
"code": "2556",
"display": "Microphthalmia with linear skin defects syndrome"
},
{
"code": "2557",
"display": "Mietens syndrome"
},
{
"code": "2558",
"display": "Mikati-Najjar-Sahli syndrome"
},
{
"code": "2560",
"display": "Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome"
},
{
"code": "2561",
"display": "Pyramidal molars-abnormal upper lip syndrome"
},
{
"code": "2563",
"display": "MOMO syndrome"
},
{
"code": "2564",
"display": "Tetramelic monodactyly"
},
{
"code": "2565",
"display": "Mononen-Karnes-Senac syndrome"
},
{
"code": "2566",
"display": "Chronic Epstein-Barr virus infection syndrome"
},
{
"code": "2570",
"display": "Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome"
},
{
"code": "2571",
"display": "X-linked immunoneurologic disorder"
},
{
"code": "2572",
"display": "Spastic ataxia-corneal dystrophy syndrome"
},
{
"code": "2573",
"display": "Moyamoya disease"
},
{
"code": "2574",
"display": "Moynahan syndrome"
},
{
"code": "2575",
"display": "Cystic fibrosis-gastritis-megaloblastic anemia syndrome"
},
{
"code": "2576",
"display": "Mulibrey nanism"
},
{
"code": "2578",
"display": "Mayer-Rokitansky-Küster-Hauser syndrome type 2"
},
{
"code": "2579",
"display": "Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome"
},
{
"code": "2582",
"display": "Myalgia-eosinophilia syndrome associated with tryptophan"
},
{
"code": "2583",
"display": "Mycetoma"
},
{
"code": "2584",
"display": "Classic mycosis fungoides"
},
{
"code": "2585",
"display": "Ataxia-pancytopenia syndrome"
},
{
"code": "2587",
"display": "Myeloperoxidase deficiency"
},
{
"code": "2588",
"display": "Myhre syndrome"
},
{
"code": "2589",
"display": "Myoclonus-cerebellar ataxia-deafness syndrome"
},
{
"code": "2590",
"display": "Spinal muscular atrophy-progressive myoclonic epilepsy syndrome"
},
{
"code": "2591",
"display": "Infantile myofibromatosis"
},
{
"code": "2593",
"display": "Tubular aggregate myopathy"
},
{
"code": "2596",
"display": "Myopathy and diabetes mellitus"
},
{
"code": "2597",
"display": "Mitochondrial myopathy-lactic acidosis-deafness syndrome"
},
{
"code": "2598",
"display": "Mitochondrial myopathy and sideroblastic anemia"
},
{
"code": "2604",
"display": "Familial visceral myopathy"
},
{
"code": "2608",
"display": "N syndrome"
},
{
"code": "2609",
"display": "Isolated complex I deficiency"
},
{
"code": "2611",
"display": "Linear verrucous nevus syndrome"
},
{
"code": "2612",
"display": "Linear nevus sebaceus syndrome"
},
{
"code": "2613",
"display": "Nail-patella-like renal disease"
},
{
"code": "2614",
"display": "Nail-patella syndrome"
},
{
"code": "2616",
"display": "3M syndrome"
},
{
"code": "2617",
"display": "Microcephalic primordial dwarfism, Montreal type"
},
{
"code": "2619",
"display": "Brachydactylous dwarfism, Mseleni type"
},
{
"code": "2623",
"display": "Geleophysic dysplasia"
},
{
"code": "2631",
"display": "Mesomelic dwarfism-cleft palate-camptodactyly syndrome"
},
{
"code": "2632",
"display": "Langer mesomelic dysplasia"
},
{
"code": "2633",
"display": "Mesomelic dysplasia, Nievergelt type"
},
{
"code": "2634",
"display": "Mesomelic dwarfism, Reinhardt-Pfeiffer type"
},
{
"code": "2635",
"display": "Metatropic dysplasia"
},
{
"code": "2636",
"display": "Microcephalic osteodysplastic primordial dwarfism types I and III"
},
{
"code": "2637",
"display": "Microcephalic osteodysplastic primordial dwarfism type II"
},
{
"code": "2639",
"display": "Fibular aplasia-complex brachydactyly syndrome"
},
{
"code": "2643",
"display": "Microcephalic primordial dwarfism, Toriello type"
},
{
"code": "2645",
"display": "Osteoglosphonic dysplasia"
},
{
"code": "2655",
"display": "Thanatophoric dysplasia"
},
{
"code": "2658",
"display": "Lenz-Majewski hyperostotic dwarfism"
},
{
"code": "2662",
"display": "Keipert syndrome"
},
{
"code": "2663",
"display": "Nathalie syndrome"
},
{
"code": "2665",
"display": "Congenital mesoblastic nephroma"
},
{
"code": "2666",
"display": "Adult familial nephronophthisis-spastic quadriparesia syndrome"
},
{
"code": "2668",
"display": "Nephropathy-deafness-hyperparathyroidism syndrome"
},
{
"code": "2669",
"display": "Nephrosis-deafness-urinary tract-digital malformations syndrome"
},
{
"code": "2670",
"display": "Pierson syndrome"
},
{
"code": "2671",
"display": "Neu-Laxova syndrome"
},
{
"code": "2672",
"display": "Neuhauser-Eichner-Opitz syndrome"
},
{
"code": "2673",
"display": "Neurofaciodigitorenal syndrome"
},
{
"code": "2674",
"display": "Cyprus facial-neuromusculoskeletal syndrome"
},
{
"code": "2678",
"display": "Familial isolated café-au-lait macules"
},
{
"code": "2680",
"display": "Hypomyelination neuropathy-arthrogryposis syndrome"
},
{
"code": "2686",
"display": "Cyclic neutropenia"
},
{
"code": "2688",
"display": "Adult idiopathic neutropenia"
},
{
"code": "2690",
"display": "Neutropenia-monocytopenia-deafness syndrome"
},
{
"code": "2695",
"display": "Bifid nose"
},
{
"code": "2697",
"display": "Arthrogryposis-renal dysfunction-cholestasis syndrome"
},
{
"code": "2698",
"display": "Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome"
},
{
"code": "2699",
"display": "Median nodule of the upper lip"
},
{
"code": "2700",
"display": "Noma"
},
{
"code": "2701",
"display": "Noonan syndrome-like disorder with loose anagen hair"
},
{
"code": "2703",
"display": "Port-wine nevi-mega cisterna magna-hydrocephalus syndrome"
},
{
"code": "2704",
"display": "Urofacial syndrome"
},
{
"code": "2707",
"display": "Oculocerebrofacial syndrome, Kaufman type"
},
{
"code": "2709",
"display": "Oculodental syndrome, Rutherfurd type"
},
{
"code": "2710",
"display": "Oculodentodigital dysplasia"
},
{
"code": "2712",
"display": "Oculofaciocardiodental syndrome"
},
{
"code": "2713",
"display": "Oculoosteocutaneous syndrome"
},
{
"code": "2714",
"display": "Oculo-palato-cerebral syndrome"
},
{
"code": "2715",
"display": "Severe oculo-renal-cerebellar syndrome"
},
{
"code": "2717",
"display": "Oculotrichoanal syndrome"
},
{
"code": "2718",
"display": "Oculotrichodysplasia"
},
{
"code": "2719",
"display": "Oculocerebral hypopigmentation syndrome, Cross type"
},
{
"code": "2720",
"display": "Oculocerebral hypopigmentation syndrome, Preus type"
},
{
"code": "2721",
"display": "Odonto-onycho-dermal dysplasia"
},
{
"code": "2722",
"display": "Odonto-onycho dysplasia-alopecia syndrome"
},
{
"code": "2723",
"display": "Odontotrichomelic syndrome"
},
{
"code": "2724",
"display": "Odontomatosis-aortae esophagus stenosis syndrome"
},
{
"code": "2728",
"display": "Blepharophimosis-intellectual disability syndrome, Ohdo type"
},
{
"code": "2730",
"display": "Postaxial tetramelic oligodactyly"
},
{
"code": "2732",
"display": "Olivopontocerebellar atrophy-deafness syndrome"
},
{
"code": "2733",
"display": "Omodysplasia"
},
{
"code": "2736",
"display": "Lethal omphalocele-cleft palate syndrome"
},
{
"code": "2737",
"display": "Onchocerciasis"
},
{
"code": "2741",
"display": "Ophthalmomandibulomelic dysplasia"
},
{
"code": "2743",
"display": "Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome"
},
{
"code": "2744",
"display": "Horizontal gaze palsy with progressive scoliosis"
},
{
"code": "2745",
"display": "Opitz GBBB syndrome"
},
{
"code": "2746",
"display": "Opsismodysplasia"
},
{
"code": "2750",
"display": "Orofaciodigital syndrome type 1"
},
{
"code": "2751",
"display": "Orofaciodigital syndrome type 2"
},
{
"code": "2753",
"display": "Orofaciodigital syndrome type 4"
},
{
"code": "2754",
"display": "Orofaciodigital syndrome type 6"
},
{
"code": "2755",
"display": "Orofaciodigital syndrome type 8"
},
{
"code": "2759",
"display": "Imperforate oropharynx-costovertebral anomalies syndrome"
},
{
"code": "2760",
"display": "OSLAM syndrome"
},
{
"code": "2762",
"display": "Progressive osseous heteroplasia"
},
{
"code": "2763",
"display": "Osteocraniostenosis"
},
{
"code": "2764",
"display": "Osteochondritis dissecans"
},
{
"code": "2767",
"display": "Carpotarsal osteochondromatosis"
},
{
"code": "2768",
"display": "Blount disease"
},
{
"code": "2769",
"display": "Familial osteodysplasia, Anderson type"
},
{
"code": "2770",
"display": "Nasu-Hakola disease"
},
{
"code": "2771",
"display": "Bruck syndrome"
},
{
"code": "2772",
"display": "Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome"
},
{
"code": "2773",
"display": "Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome"
},
{
"code": "2774",
"display": "Multicentric carpo-tarsal osteolysis with or without nephropathy"
},
{
"code": "2776",
"display": "Autosomal recessive distal osteolysis syndrome"
},
{
"code": "2777",
"display": "Osteomesopyknosis"
},
{
"code": "2779",
"display": "Osteopathia striata-pigmentary dermopathy-white forelock syndrome"
},
{
"code": "2780",
"display": "Osteopathia striata-cranial sclerosis syndrome"
},
{
"code": "2783",
"display": "Autosomal dominant osteopetrosis type 1"
},
{
"code": "2785",
"display": "Osteopetrosis with renal tubular acidosis"
},
{
"code": "2786",
"display": "Osteoporosis-oculocutaneous hypopigmentation syndrome"
},
{
"code": "2787",
"display": "Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome"
},
{
"code": "2788",
"display": "Osteoporosis-pseudoglioma syndrome"
},
{
"code": "2789",
"display": "Lateral meningocele syndrome"
},
{
"code": "2790",
"display": "Endosteal hyperostosis, Worth type"
},
{
"code": "2791",
"display": "Otodental syndrome"
},
{
"code": "2792",
"display": "Otofaciocervical syndrome"
},
{
"code": "2793",
"display": "Otoonychoperoneal syndrome"
},
{
"code": "2795",
"display": "Fowler urethral sphincter dysfunction syndrome"
},
{
"code": "2796",
"display": "Pachydermoperiostosis"
},
{
"code": "2798",
"display": "Pachygyria-intellectual disability-epilepsy syndrome"
},
{
"code": "2800",
"display": "Extramammary Paget disease"
},
{
"code": "2801",
"display": "Juvenile Paget disease"
},
{
"code": "2802",
"display": "X-linked sideroblastic anemia and spinocerebellar ataxia"
},
{
"code": "2804",
"display": "W syndrome"
},
{
"code": "2805",
"display": "Partial pancreatic agenesis"
},
{
"code": "2806",
"display": "Subacute sclerosing leukoencephalitis"
},
{
"code": "2807",
"display": "Papilloma of choroid plexus"
},
{
"code": "2808",
"display": "Laryngeal abductor paralysis"
},
{
"code": "2809",
"display": "Familial recurrent peripheral facial palsy"
},
{
"code": "2812",
"display": "Parana hard skin syndrome"
},
{
"code": "2815",
"display": "Spastic paraparesis-deafness syndrome"
},
{
"code": "2818",
"display": "Spastic paraplegia-glaucoma-intellectual disability syndrome"
},
{
"code": "2819",
"display": "Spastic paraplegia-facial-cutaneous lesions syndrome"
},
{
"code": "2820",
"display": "Spastic paraplegia-nephritis-deafness syndrome"
},
{
"code": "2821",
"display": "Spastic paraplegia-neuropathy-poikiloderma syndrome"
},
{
"code": "2822",
"display": "Autosomal recessive spastic paraplegia type 11"
},
{
"code": "2824",
"display": "Paraplegia-intellectual disability-hyperkeratosis syndrome"
},
{
"code": "2825",
"display": "PARC syndrome"
},
{
"code": "2826",
"display": "Spastic paraplegia-precocious puberty syndrome"
},
{
"code": "2828",
"display": "Young-onset Parkinson disease"
},
{
"code": "2831",
"display": "Rhizomelic dysplasia, Patterson-Lowry type"
},
{
"code": "2832",
"display": "Short tarsus-absence of lower eyelashes syndrome"
},
{
"code": "2833",
"display": "Stiff skin syndrome"
},
{
"code": "2834",
"display": "Wrinkly skin syndrome"
},
{
"code": "2835",
"display": "Pectus excavatum-macrocephaly-dysplastic nails syndrome"
},
{
"code": "2836",
"display": "PEHO syndrome"
},
{
"code": "2838",
"display": "Renal caliceal diverticuli-deafness syndrome"
},
{
"code": "2839",
"display": "Pelvis-shoulder dysplasia"
},
{
"code": "2840",
"display": "Pelvic dysplasia-arthrogryposis of lower limbs syndrome"
},
{
"code": "2841",
"display": "Hailey-Hailey disease"
},
{
"code": "2842",
"display": "Penoscrotal transposition"
},
{
"code": "2843",
"display": "Pentosuria"
},
{
"code": "2847",
"display": "Pericardial and diaphragmatic defect"
},
{
"code": "2848",
"display": "Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome"
},
{
"code": "2849",
"display": "Perlman syndrome"
},
{
"code": "2850",
"display": "Alopecia-intellectual disability syndrome"
},
{
"code": "2854",
"display": "Fuhrmann syndrome"
},
{
"code": "2855",
"display": "Perrault syndrome"
},
{
"code": "2856",
"display": "Persistent Müllerian duct syndrome"
},
{
"code": "2863",
"display": "Short stature-wormian bones-dextrocardia syndrome"
},
{
"code": "2865",
"display": "Short stature-webbed neck-heart disease syndrome"
},
{
"code": "2866",
"display": "Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome"
},
{
"code": "2867",
"display": "Short stature, Brussels type"
},
{
"code": "2868",
"display": "Short stature-valvular heart disease-characteristic facies syndrome"
},
{
"code": "2869",
"display": "Peutz-Jeghers syndrome"
},
{
"code": "2871",
"display": "Pfeiffer-Palm-Teller syndrome"
},
{
"code": "2872",
"display": "Cardiocranial syndrome, Pfeiffer type"
},
{
"code": "2874",
"display": "Phakomatosis pigmentokeratotica"
},
{
"code": "2875",
"display": "Phakomatosis pigmentovascularis"
},
{
"code": "2876",
"display": "PHAVER syndrome"
},
{
"code": "2879",
"display": "Phocomelia, Schinzel type"
},
{
"code": "2880",
"display": "Phosphoenolpyruvate carboxykinase deficiency"
},
{
"code": "2881",
"display": "Cutaneous photosensitivity-lethal colitis syndrome"
},
{
"code": "2882",
"display": "Sitosterolemia"
},
{
"code": "2884",
"display": "Piebaldism"
},
{
"code": "2885",
"display": "Piebald trait-neurologic defects syndrome"
},
{
"code": "2886",
"display": "TARP syndrome"
},
{
"code": "2888",
"display": "Pierre Robin syndrome-faciodigital anomaly syndrome"
},
{
"code": "2889",
"display": "Pili torti"
},
{
"code": "2890",
"display": "Pili torti-onychodysplasia syndrome"
},
{
"code": "2891",
"display": "Pili torti-developmental delay-neurological abnormalities syndrome"
},
{
"code": "2892",
"display": "Pilodental dysplasia-refractive errors syndrome"
},
{
"code": "2896",
"display": "Pitt-Hopkins syndrome"
},
{
"code": "2897",
"display": "Pityriasis rubra pilaris"
},
{
"code": "2898",
"display": "X-linked intellectual disability-plagiocephaly syndrome"
},
{
"code": "2899",
"display": "Brachyolmia-amelogenesis imperfecta syndrome"
},
{
"code": "2900",
"display": "Leri pleonosteosis"
},
{
"code": "2901",
"display": "Neuralgic amyotrophy"
},
{
"code": "2902",
"display": "Idiopathic chronic eosinophilic pneumonia"
},
{
"code": "2903",
"display": "Familial spontaneous pneumothorax"
},
{
"code": "2905",
"display": "POEMS syndrome"
},
{
"code": "2907",
"display": "Hereditary acrokeratotic poikiloderma"
},
{
"code": "2908",
"display": "Kindler epidermolysis bullosa"
},
{
"code": "2909",
"display": "Rothmund-Thomson syndrome"
},
{
"code": "2911",
"display": "Poland syndrome"
},
{
"code": "2912",
"display": "Poliomyelitis"
},
{
"code": "2916",
"display": "Postaxial polydactyly-dental and vertebral anomalies syndrome"
},
{
"code": "2917",
"display": "Polydactyly-myopia syndrome"
},
{
"code": "2919",
"display": "Orofaciodigital syndrome type 5"
},
{
"code": "2920",
"display": "Oliver syndrome"
},
{
"code": "2921",
"display": "Preaxial polydactyly-colobomata-intellectual disability syndrome"
},
{
"code": "2924",
"display": "Isolated polycystic liver disease"
},
{
"code": "2926",
"display": "Digital extensor muscle aplasia-polyneuropathy"
},
{
"code": "2928",
"display": "Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome"
},
{
"code": "2929",
"display": "Juvenile polyposis syndrome"
},
{
"code": "2930",
"display": "Cronkhite-Canada syndrome"
},
{
"code": "2932",
"display": "Chronic inflammatory demyelinating polyneuropathy"
},
{
"code": "2934",
"display": "Polysyndactyly-cardiac malformation syndrome"
},
{
"code": "2935",
"display": "Crossed polysyndactyly"
},
{
"code": "2940",
"display": "Porencephaly"
},
{
"code": "2941",
"display": "Porencephaly-cerebellar hypoplasia-internal malformations syndrome"
},
{
"code": "2942",
"display": "Postpoliomyelitis syndrome"
},
{
"code": "2946",
"display": "Brachydactyly-long thumb syndrome"
},
{
"code": "2947",
"display": "Triphalangeal thumbs-brachyectrodactyly syndrome"
},
{
"code": "2951",
"display": "Absent thumb-short stature-immunodeficiency syndrome"
},
{
"code": "2952",
"display": "Adducted thumbs-arthrogryposis syndrome, Christian type"
},
{
"code": "2953",
"display": "Musculocontractural Ehlers-Danlos syndrome"
},
{
"code": "2956",
"display": "Acrodysplasia scoliosis"
},
{
"code": "2957",
"display": "Guttmacher syndrome"
},
{
"code": "2958",
"display": "X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome"
},
{
"code": "2959",
"display": "Progeria-short stature-pigmented nevi syndrome"
},
{
"code": "2962",
"display": "De Barsy syndrome"
},
{
"code": "2963",
"display": "Progeroid syndrome, Petty type"
},
{
"code": "2964",
"display": "Autosomal dominant prognathism"
},
{
"code": "2965",
"display": "Prolactinoma"
},
{
"code": "2966",
"display": "Properdin deficiency"
},
{
"code": "2967",
"display": "Transcobalamin I deficiency"
},
{
"code": "2968",
"display": "Leukocyte adhesion deficiency"
},
{
"code": "2969",
"display": "Proteus-like syndrome"
},
{
"code": "2970",
"display": "Prune belly syndrome"
},
{
"code": "2971",
"display": "Peroxisomal acyl-CoA oxidase deficiency"
},
{
"code": "2972",
"display": "Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome"
},
{
"code": "2973",
"display": "46,XX difference of sex development-anorectal anomalies syndrome"
},
{
"code": "2975",
"display": "46,XX difference of sex development-skeletal anomalies syndrome"
},
{
"code": "2976",
"display": "Pseudoleprechaunism syndrome, Patterson type"
},
{
"code": "2978",
"display": "Chronic intestinal pseudoobstruction"
},
{
"code": "2980",
"display": "Acrootoocular syndrome"
},
{
"code": "2983",
"display": "Difference of sex development-intellectual disability syndrome"
},
{
"code": "2985",
"display": "Pseudoprogeria syndrome"
},
{
"code": "2987",
"display": "Antecubital pterygium syndrome"
},
{
"code": "2988",
"display": "Pterygium colli-intellectual disability-digital anomalies syndrome"
},
{
"code": "2989",
"display": "Familial pterygium of the conjunctiva"
},
{
"code": "2990",
"display": "Autosomal recessive multiple pterygium syndrome"
},
{
"code": "2994",
"display": "Short stature-craniofacial anomalies-genital hypoplasia syndrome"
},
{
"code": "2995",
"display": "Baraitser-Winter cerebrofrontofacial syndrome"
},
{
"code": "2997",
"display": "Ptosis-vocal cord paralysis syndrome"
},
{
"code": "2999",
"display": "Ptosis-strabismus-ectopic pupils syndrome"
},
{
"code": "3000",
"display": "Familial peripheral male-limited precocious puberty"
},
{
"code": "3002",
"display": "Immune thrombocytopenia"
},
{
"code": "3003",
"display": "Pyknoachondrogenesis"
},
{
"code": "3004",
"display": "Mirror polydactyly-vertebral segmentation-limbs defects syndrome"
},
{
"code": "3005",
"display": "Pyle disease"
},
{
"code": "3006",
"display": "Pyridoxine-dependent epilepsy"
},
{
"code": "3008",
"display": "Pyruvate carboxylase deficiency"
},
{
"code": "3010",
"display": "Qazi-Markouizos syndrome"
},
{
"code": "3011",
"display": "Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome"
},
{
"code": "3015",
"display": "Radio-renal syndrome"
},
{
"code": "3016",
"display": "Absent radius-anogenital anomalies syndrome"
},
{
"code": "3018",
"display": "Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome"
},
{
"code": "3019",
"display": "Ramon syndrome"
},
{
"code": "3020",
"display": "Ramsay Hunt syndrome"
},
{
"code": "3021",
"display": "RAPADILINO syndrome"
},
{
"code": "3023",
"display": "External auditory canal atresia-vertical talus-hypertelorism syndrome"
},
{
"code": "3026",
"display": "Radial ray hypoplasia-choanal atresia syndrome"
},
{
"code": "3027",
"display": "Caudal regression syndrome"
},
{
"code": "3032",
"display": "NPHP3-related Meckel-like syndrome"
},
{
"code": "3033",
"display": "Renal tubular dysgenesis"
},
{
"code": "3034",
"display": "Delayed membranous cranial ossification"
},
{
"code": "3035",
"display": "Growth delay-hydrocephaly-lung hypoplasia syndrome"
},
{
"code": "3038",
"display": "Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome"
},
{
"code": "3041",
"display": "Intellectual disability-balding-patella luxation-acromicria syndrome"
},
{
"code": "3042",
"display": "Intellectual disability-cataracts-calcified pinnae-myopathy syndrome"
},
{
"code": "3044",
"display": "Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome"
},
{
"code": "3047",
"display": "Blepharophimosis-intellectual disability syndrome, SBBYS type"
},
{
"code": "3051",
"display": "Nicolaides-Baraitser syndrome"
},
{
"code": "3052",
"display": "X-linked intellectual disability-seizures-psoriasis syndrome"
},
{
"code": "3055",
"display": "X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome"
},
{
"code": "3057",
"display": "Monoamine oxidase A deficiency"
},
{
"code": "3063",
"display": "X-linked intellectual disability, Snyder type"
},
{
"code": "3068",
"display": "Intellectual disability-myopathy-short stature-endocrine defect syndrome"
},
{
"code": "3071",
"display": "Costello syndrome"
},
{
"code": "3074",
"display": "Intellectual disability-short stature-hypertelorism syndrome"
},
{
"code": "3077",
"display": "X-linked intellectual disability-psychosis-macroorchidism syndrome"
},
{
"code": "3078",
"display": "Severe X-linked intellectual disability, Gustavson type"
},
{
"code": "3079",
"display": "Intellectual disability, Buenos-Aires type"
},
{
"code": "3080",
"display": "Intellectual disability, Wolff type"
},
{
"code": "3082",
"display": "Intellectual disability-polydactyly-uncombable hair syndrome"
},
{
"code": "3085",
"display": "Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome"
},
{
"code": "3086",
"display": "Autosomal dominant vitreoretinochoroidopathy"
},
{
"code": "3088",
"display": "Revesz syndrome"
},
{
"code": "3092",
"display": "Fixed subaortic stenosis"
},
{
"code": "3093",
"display": "Congenital aortic valve stenosis"
},
{
"code": "3095",
"display": "Atypical Rett syndrome"
},
{
"code": "3096",
"display": "Reye syndrome"
},
{
"code": "3097",
"display": "Meacham syndrome"
},
{
"code": "3098",
"display": "Rhizomelic syndrome, Urbach type"
},
{
"code": "3099",
"display": "Rheumatic fever"
},
{
"code": "3101",
"display": "Richieri Costa-da Silva syndrome"
},
{
"code": "3102",
"display": "Richieri Costa-Pereira syndrome"
},
{
"code": "3103",
"display": "Roberts syndrome"
},
{
"code": "3104",
"display": "Robin sequence-oligodactyly syndrome"
},
{
"code": "3107",
"display": "Autosomal dominant Robinow syndrome"
},
{
"code": "3109",
"display": "Mayer-Rokitansky-Küster-Hauser syndrome"
},
{
"code": "3110",
"display": "Rombo syndrome"
},
{
"code": "3111",
"display": "Rotor syndrome"
},
{
"code": "3115",
"display": "Roussy-Lévy syndrome"
},
{
"code": "3121",
"display": "Ruvalcaba syndrome"
},
{
"code": "3124",
"display": "Saccharopinuria"
},
{
"code": "3129",
"display": "Sarcosinemia"
},
{
"code": "3130",
"display": "Satoyoshi syndrome"
},
{
"code": "3132",
"display": "Say-Barber-Miller syndrome"
},
{
"code": "3134",
"display": "SCARF syndrome"
},
{
"code": "3137",
"display": "Alpha-N-acetylgalactosaminidase deficiency"
},
{
"code": "3138",
"display": "Ulnar-mammary syndrome"
},
{
"code": "3143",
"display": "Autoimmune polyendocrinopathy type 2"
},
{
"code": "3144",
"display": "Schneckenbecken dysplasia"
},
{
"code": "3145",
"display": "Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome"
},
{
"code": "3148",
"display": "Malignant peripheral nerve sheath tumor"
},
{
"code": "3151",
"display": "Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome"
},
{
"code": "3152",
"display": "Sclerosteosis"
},
{
"code": "3156",
"display": "Senior-Loken syndrome"
},
{
"code": "3157",
"display": "Septo-optic dysplasia spectrum"
},
{
"code": "3161",
"display": "Congenital pulmonary sequestration"
},
{
"code": "3162",
"display": "Sézary syndrome"
},
{
"code": "3163",
"display": "SHORT syndrome"
},
{
"code": "3164",
"display": "Omphalocele syndrome, Shprintzen-Goldberg type"
},
{
"code": "3165",
"display": "Eosinophilic fasciitis"
},
{
"code": "3166",
"display": "Sialuria"
},
{
"code": "3167",
"display": "Siegler-Brewer-Carey syndrome"
},
{
"code": "3168",
"display": "Sillence syndrome"
},
{
"code": "3169",
"display": "Sirenomelia"
},
{
"code": "3172",
"display": "Eyebrow duplication-syndactyly syndrome"
},
{
"code": "3173",
"display": "Infantile spasms-broad thumbs syndrome"
},
{
"code": "3175",
"display": "X-linked spasticity-intellectual disability-epilepsy syndrome"
},
{
"code": "3176",
"display": "Spina bifida-hypospadias syndrome"
},
{
"code": "3177",
"display": "Spinocerebellar degeneration-corneal dystrophy syndrome"
},
{
"code": "3180",
"display": "Spondylocamptodactyly syndrome"
},
{
"code": "3181",
"display": "Sprengel deformity"
},
{
"code": "3184",
"display": "Steatocystoma multiplex-natal teeth syndrome"
},
{
"code": "3186",
"display": "Holoprosencephaly-radial heart renal anomalies syndrome"
},
{
"code": "3189",
"display": "Congenital pulmonary valvar stenosis"
},
{
"code": "3190",
"display": "Subpulmonary stenosis"
},
{
"code": "3191",
"display": "Subaortic stenosis-short stature syndrome"
},
{
"code": "3192",
"display": "Supravalvular pulmonary stenosis"
},
{
"code": "3193",
"display": "Supravalvular aortic stenosis"
},
{
"code": "3194",
"display": "Corneodermatoosseous syndrome"
},
{
"code": "3196",
"display": "Steroid dehydrogenase deficiency-dental anomalies syndrome"
},
{
"code": "3197",
"display": "Hereditary hyperekplexia"
},
{
"code": "3198",
"display": "Stiff person spectrum disorder"
},
{
"code": "3199",
"display": "Stimmler syndrome"
},
{
"code": "3200",
"display": "Arthrogryposis-ectodermal dysplasia syndrome"
},
{
"code": "3201",
"display": "Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome"
},
{
"code": "3202",
"display": "Dehydrated hereditary stomatocytosis"
},
{
"code": "3203",
"display": "Overhydrated hereditary stomatocytosis"
},
{
"code": "3204",
"display": "Stormorken-Sjaastad-Langslet syndrome"
},
{
"code": "3205",
"display": "Sturge-Weber syndrome"
},
{
"code": "3206",
"display": "Stüve-Wiedemann syndrome"
},
{
"code": "3207",
"display": "White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome"
},
{
"code": "3208",
"display": "Isolated succinate-CoQ reductase deficiency"
},
{
"code": "3214",
"display": "Deaf blind hypopigmentation syndrome, Yemenite type"
},
{
"code": "3216",
"display": "Conductive deafness-malformed external ear syndrome"
},
{
"code": "3217",
"display": "Deafness-small bowel diverticulosis-neuropathy syndrome"
},
{
"code": "3218",
"display": "Deafness-epiphyseal dysplasia-short stature syndrome"
},
{
"code": "3219",
"display": "Fountain syndrome"
},
{
"code": "3220",
"display": "Deafness-enamel hypoplasia-nail defects syndrome"
},
{
"code": "3222",
"display": "Phosphoribosylpyrophosphate synthetase superactivity"
},
{
"code": "3224",
"display": "Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome"
},
{
"code": "3225",
"display": "Hearing loss-familial salivary gland insensitivity to aldosterone syndrome"
},
{
"code": "3230",
"display": "Deafness-oligodontia syndrome"
},
{
"code": "3232",
"display": "Deafness-ear malformation-facial palsy syndrome"
},
{
"code": "3233",
"display": "Cochleosaccular degeneration-cataract syndrome"
},
{
"code": "3235",
"display": "Progressive deafness with stapes fixation"
},
{
"code": "3236",
"display": "Conductive deafness-ptosis-skeletal anomalies syndrome"
},
{
"code": "3237",
"display": "Multiple synostoses syndrome"
},
{
"code": "3238",
"display": "Cardiospondylocarpofacial syndrome"
},
{
"code": "3239",
"display": "Deafness-vitiligo-achalasia syndrome"
},
{
"code": "3240",
"display": "Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome"
},
{
"code": "3241",
"display": "Deafness-craniofacial syndrome"
},
{
"code": "3242",
"display": "Renpenning syndrome"
},
{
"code": "3243",
"display": "Sweet syndrome"
},
{
"code": "3246",
"display": "Symphalangism with multiple anomalies of hands and feet"
},
{
"code": "3248",
"display": "Isolated distal symphalangism"
},
{
"code": "3250",
"display": "Proximal symphalangism"
},
{
"code": "3253",
"display": "Cleft lip/palate-ectodermal dysplasia syndrome"
},
{
"code": "3255",
"display": "Filippi syndrome"
},
{
"code": "3258",
"display": "Cenani-Lenz syndrome"
},
{
"code": "3259",
"display": "Syndactyly-polydactyly-ear lobe syndrome"
},
{
"code": "3260",
"display": "Idiopathic hypereosinophilic syndrome"
},
{
"code": "3261",
"display": "Autoimmune lymphoproliferative syndrome"
},
{
"code": "3262",
"display": "Dobrow syndrome"
},
{
"code": "3263",
"display": "Syngnathia-cleft palate syndrome"
},
{
"code": "3265",
"display": "Isolated humero-radial synostosis"
},
{
"code": "3266",
"display": "Isolated humero-radio-ulnar synostosis"
},
{
"code": "3268",
"display": "Radioulnar synostosis-microcephaly-scoliosis syndrome"
},
{
"code": "3269",
"display": "Isolated radio-ulnar synostosis"
},
{
"code": "3270",
"display": "Radioulnar synostosis-developmental delay-hypotonia syndrome"
},
{
"code": "3273",
"display": "Synovial sarcoma"
},
{
"code": "3275",
"display": "Spondylocarpotarsal synostosis"
},
{
"code": "3282",
"display": "Multifocal atrial tachycardia"
},
{
"code": "3283",
"display": "His bundle tachycardia"
},
{
"code": "3286",
"display": "Catecholaminergic polymorphic ventricular tachycardia"
},
{
"code": "3287",
"display": "Takayasu arteritis"
},
{
"code": "3291",
"display": "Teebi-Shaltout syndrome"
},
{
"code": "3292",
"display": "Tel Hashomer camptodactyly syndrome"
},
{
"code": "3293",
"display": "Telecanthus-hypertelorism-strabismus-pes cavus syndrome"
},
{
"code": "3294",
"display": "Extensor tendons of finger anomalies"
},
{
"code": "3299",
"display": "Tetanus"
},
{
"code": "3301",
"display": "Tetraamelia-multiple malformations syndrome"
},
{
"code": "3303",
"display": "Tetralogy of Fallot"
},
{
"code": "3304",
"display": "Fallot complex-intellectual disability-growth delay syndrome"
},
{
"code": "3305",
"display": "Tetraploidy"
},
{
"code": "3306",
"display": "Inverted duplicated chromosome 15 syndrome"
},
{
"code": "3307",
"display": "Tetrasomy 18p"
},
{
"code": "3309",
"display": "Tetrasomy 5p"
},
{
"code": "3310",
"display": "Tetrasomy 9p"
},
{
"code": "3312",
"display": "Thalidomide embryopathy"
},
{
"code": "3314",
"display": "Thiemann disease, familial form"
},
{
"code": "3316",
"display": "Thomas syndrome"
},
{
"code": "3317",
"display": "Thoracolaryngopelvic dysplasia"
},
{
"code": "3318",
"display": "Essential thrombocythemia"
},
{
"code": "3319",
"display": "Congenital amegakaryocytic thrombocytopenia"
},
{
"code": "3320",
"display": "Thrombocytopenia-absent radius syndrome"
},
{
"code": "3322",
"display": "Hoyeraal-Hreidarsson syndrome"
},
{
"code": "3324",
"display": "Familial thrombomodulin anomalies"
},
{
"code": "3325",
"display": "Heparin-induced thrombocytopenia"
},
{
"code": "3326",
"display": "Thymic-renal-anal-lung dysplasia"
},
{
"code": "3327",
"display": "Thyrocerebrorenal syndrome"
},
{
"code": "3328",
"display": "Absent tibia-polydactyly-arachnoid cyst syndrome"
},
{
"code": "3329",
"display": "Tibial aplasia-ectrodactyly syndrome"
},
{
"code": "3337",
"display": "Primary Fanconi renotubular syndrome"
},
{
"code": "3338",
"display": "Toriello-Carey syndrome"
},
{
"code": "3339",
"display": "Oculoectodermal syndrome"
},
{
"code": "3341",
"display": "Torticollis-keloids-cryptorchidism-renal dysplasia syndrome"
},
{
"code": "3342",
"display": "Arterial tortuosity syndrome"
},
{
"code": "3343",
"display": "Toxocariasis"
},
{
"code": "3344",
"display": "Weismann-Netter syndrome"
},
{
"code": "3346",
"display": "Tracheal agenesis"
},
{
"code": "3347",
"display": "Mounier-Kühn syndrome"
},
{
"code": "3348",
"display": "Tracheobronchopathia osteochondroplastica"
},
{
"code": "3350",
"display": "Tremor-nystagmus-duodenal ulcer syndrome"
},
{
"code": "3351",
"display": "Trichodental syndrome"
},
{
"code": "3352",
"display": "Tricho-dento-osseous syndrome"
},
{
"code": "3353",
"display": "Trichodermodysplasia-dental alterations syndrome"
},
{
"code": "3355",
"display": "Trichoodontoonychial dysplasia"
},
{
"code": "3361",
"display": "Trichodysplasia-xeroderma syndrome"
},
{
"code": "3363",
"display": "Trichomegaly-retina pigmentary degeneration-dwarfism syndrome"
},
{
"code": "3365",
"display": "Trigonocephaly-broad thumbs syndrome"
},
{
"code": "3366",
"display": "Non-syndromic metopic craniosynostosis"
},
{
"code": "3368",
"display": "Trigonocephaly-bifid nose-acral anomalies syndrome"
},
{
"code": "3369",
"display": "Trigonocephaly-short stature-developmental delay syndrome"
},
{
"code": "3374",
"display": "Unilateral ocular duplication"
},
{
"code": "3375",
"display": "Trisomy X"
},
{
"code": "3376",
"display": "Triploidy"
},
{
"code": "3377",
"display": "Trismus-pseudocamptodactyly syndrome"
},
{
"code": "3378",
"display": "Trisomy 13"
},
{
"code": "3379",
"display": "Distal duplication 17q"
},
{
"code": "3380",
"display": "Trisomy 18"
},
{
"code": "3383",
"display": "Humerus trochlea aplasia"
},
{
"code": "3384",
"display": "Common arterial trunk"
},
{
"code": "3385",
"display": "African trypanosomiasis"
},
{
"code": "3386",
"display": "American trypanosomiasis"
},
{
"code": "3387",
"display": "Isolated anterior cervical hypertrichosis"
},
{
"code": "3392",
"display": "Tularemia"
},
{
"code": "3400",
"display": "Aorto-ventricular tunnel"
},
{
"code": "3402",
"display": "Transient tyrosinemia of the newborn"
},
{
"code": "3403",
"display": "Uhl anomaly"
},
{
"code": "3404",
"display": "Ulbright-Hodes syndrome"
},
{
"code": "3405",
"display": "Umbilical cord ulceration-intestinal atresia syndrome"
},
{
"code": "3406",
"display": "Ulerythema ophryogenesis"
},
{
"code": "3408",
"display": "Upington disease"
},
{
"code": "3409",
"display": "Urban-Rogers-Meyer syndrome"
},
{
"code": "3411",
"display": "Double uterus-hemivagina-renal agenesis syndrome"
},
{
"code": "3412",
"display": "VACTERL with hydrocephalus"
},
{
"code": "3416",
"display": "Hyperostosis corticalis generalisata"
},
{
"code": "3417",
"display": "Van den Bosch syndrome"
},
{
"code": "3424",
"display": "Velo-facial-skeletal syndrome"
},
{
"code": "3426",
"display": "Double outlet right ventricle"
},
{
"code": "3427",
"display": "Double outlet left ventricle"
},
{
"code": "3429",
"display": "Verloove Vanhorick-Brubakk syndrome"
},
{
"code": "3433",
"display": "Microcephaly-brachydactyly-kyphoscoliosis syndrome"
},
{
"code": "3434",
"display": "MMEP syndrome"
},
{
"code": "3437",
"display": "Vogt-Koyanagi-Harada disease"
},
{
"code": "3439",
"display": "Von Voss-Cherstvoy syndrome"
},
{
"code": "3440",
"display": "Waardenburg syndrome"
},
{
"code": "3447",
"display": "Weaver syndrome"
},
{
"code": "3448",
"display": "Weaver-Williams syndrome"
},
{
"code": "3449",
"display": "Weill-Marchesani syndrome"
},
{
"code": "3451",
"display": "Infantile spasms syndrome"
},
{
"code": "3452",
"display": "Whipple disease"
},
{
"code": "3453",
"display": "Autoimmune polyendocrinopathy type 1"
},
{
"code": "3454",
"display": "Intellectual disability-developmental delay-contractures syndrome"
},
{
"code": "3455",
"display": "Wiedemann-Rautenstrauch syndrome"
},
{
"code": "3456",
"display": "Wildervanck syndrome"
},
{
"code": "3459",
"display": "Wilson-Turner syndrome"
},
{
"code": "3463",
"display": "Wolfram syndrome"
},
{
"code": "3464",
"display": "Woodhouse-Sakati syndrome"
},
{
"code": "3465",
"display": "Worster-Drought syndrome"
},
{
"code": "3466",
"display": "WT limb-blood syndrome"
},
{
"code": "3467",
"display": "Hereditary xanthinuria"
},
{
"code": "3469",
"display": "XK aprosencephaly syndrome"
},
{
"code": "3471",
"display": "Young syndrome"
},
{
"code": "3472",
"display": "Yunis-Varon syndrome"
},
{
"code": "3473",
"display": "Zimmermann-Laband syndrome"
},
{
"code": "3474",
"display": "CHIME syndrome"
},
{
"code": "25968",
"display": "Benign occipital epilepsy"
},
{
"code": "25980",
"display": "X-linked myopathy with excessive autophagy"
},
{
"code": "26106",
"display": "Hereditary diffuse gastric cancer"
},
{
"code": "26137",
"display": "Juvenile temporal arteritis"
},
{
"code": "26348",
"display": "Acquired prothrombin deficiency"
},
{
"code": "26349",
"display": "Protein S acquired deficiency"
},
{
"code": "26790",
"display": "Pseudomyxoma peritonei"
},
{
"code": "26791",
"display": "Multiple acyl-CoA dehydrogenase deficiency"
},
{
"code": "26792",
"display": "Short chain acyl-CoA dehydrogenase deficiency"
},
{
"code": "26793",
"display": "Very long chain acyl-CoA dehydrogenase deficiency"
},
{
"code": "28378",
"display": "Tyrosinemia type 2"
},
{
"code": "29072",
"display": "Hereditary pheochromocytoma-paraganglioma"
},
{
"code": "29073",
"display": "Multiple myeloma"
},
{
"code": "29207",
"display": "Reactive arthritis"
},
{
"code": "29822",
"display": "Spontaneous periodic hypothermia"
},
{
"code": "30391",
"display": "Isolated biliary atresia"
},
{
"code": "30924",
"display": "Primary hypomagnesemia with secondary hypocalcemia"
},
{
"code": "30925",
"display": "Hereditary arginine vasopressin deficiency"
},
{
"code": "31043",
"display": "Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement"
},
{
"code": "31112",
"display": "Dermatofibrosarcoma protuberans"
},
{
"code": "31150",
"display": "Tangier disease"
},
{
"code": "31202",
"display": "Melioidosis"
},
{
"code": "31204",
"display": "Nocardiosis"
},
{
"code": "31205",
"display": "Rat-bite fever"
},
{
"code": "31709",
"display": "Infantile convulsions and choreoathetosis"
},
{
"code": "31824",
"display": "Colchicine poisoning"
},
{
"code": "31825",
"display": "Methanol poisoning"
},
{
"code": "31826",
"display": "Ethylene glycol poisoning"
},
{
"code": "31827",
"display": "Paraquat poisoning"
},
{
"code": "31828",
"display": "Digitalis poisoning"
},
{
"code": "31837",
"display": "Pulmonary venoocclusive disease"
},
{
"code": "32960",
"display": "Tumor necrosis factor receptor 1 associated periodic syndrome"
},
{
"code": "33001",
"display": "Lymphedema-distichiasis syndrome"
},
{
"code": "33067",
"display": "Metaphyseal chondrodysplasia, Jansen type"
},
{
"code": "33069",
"display": "Dravet syndrome"
},
{
"code": "33108",
"display": "Lethal multiple pterygium syndrome"
},
{
"code": "33110",
"display": "Autosomal agammaglobulinemia"
},
{
"code": "33111",
"display": "Granulomatous slack skin"
},
{
"code": "33208",
"display": "Idiopathic hypersomnia"
},
{
"code": "33226",
"display": "Waldenström macroglobulinemia"
},
{
"code": "33276",
"display": "Kaposi sarcoma"
},
{
"code": "33314",
"display": "Jessner lymphocytic infiltration of the skin"
},
{
"code": "33355",
"display": "Reticular dysgenesis"
},
{
"code": "33364",
"display": "Trichothiodystrophy"
},
{
"code": "33402",
"display": "Pediatric hepatocellular carcinoma"
},
{
"code": "33408",
"display": "Bullous lichen planus"
},
{
"code": "33445",
"display": "Neuroectodermal melanolysosomal disease"
},
{
"code": "33475",
"display": "Meningococcal meningitis"
},
{
"code": "33543",
"display": "Kleine-Levin syndrome"
},
{
"code": "33572",
"display": "5-oxoprolinase deficiency"
},
{
"code": "33573",
"display": "Gamma-glutamyl transpeptidase deficiency"
},
{
"code": "33574",
"display": "Glutamate-cysteine ligase deficiency"
},
{
"code": "33577",
"display": "Nodular non-suppurative panniculitis"
},
{
"code": "34145",
"display": "Immunoglobulin A nephropathy"
},
{
"code": "34149",
"display": "Autosomal dominant tubulointerstitial kidney disease"
},
{
"code": "34217",
"display": "Naxos disease"
},
{
"code": "34514",
"display": "Telethonin-related limb-girdle muscular dystrophy R7"
},
{
"code": "34515",
"display": "FKRP-related limb-girdle muscular dystrophy R9"
},
{
"code": "34516",
"display": "DNAJB6-related limb-girdle muscular dystrophy D1"
},
{
"code": "34520",
"display": "Congenital muscular dystrophy with integrin alpha-7 deficiency"
},
{
"code": "34528",
"display": "Autosomal dominant primary hypomagnesemia with hypocalciuria"
},
{
"code": "34587",
"display": "Danon disease"
},
{
"code": "34592",
"display": "Immunodeficiency by defective expression of MHC class I"
},
{
"code": "35062",
"display": "Severe disseminated cytomegalovirus infection in immunocompetent patients"
},
{
"code": "35063",
"display": "Fulminant viral hepatitis"
},
{
"code": "35069",
"display": "Infantile neuroaxonal dystrophy"
},
{
"code": "35078",
"display": "T-B+ severe combined immunodeficiency due to JAK3 deficiency"
},
{
"code": "35093",
"display": "Non-syndromic sagittal craniosynostosis"
},
{
"code": "35099",
"display": "Non-syndromic bicoronal craniosynostosis"
},
{
"code": "35107",
"display": "Desmosterolosis"
},
{
"code": "35120",
"display": "Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency"
},
{
"code": "35121",
"display": "Lysosomal acid phosphatase deficiency"
},
{
"code": "35122",
"display": "Congenital sucrase-isomaltase deficiency"
},
{
"code": "35125",
"display": "Epidermal nevus syndrome"
},
{
"code": "35173",
"display": "X-linked dominant chondrodysplasia punctata"
},
{
"code": "35612",
"display": "Nanophthalmos"
},
{
"code": "35664",
"display": "ALDH18A1-related De Barsy syndrome"
},
{
"code": "35686",
"display": "Serpiginous choroiditis"
},
{
"code": "35687",
"display": "Erdheim-Chester disease"
},
{
"code": "35689",
"display": "Primary lateral sclerosis"
},
{
"code": "35701",
"display": "3-hydroxy-3-methylglutaryl-CoA synthase deficiency"
},
{
"code": "35704",
"display": "L-Arginine:glycine amidinotransferase deficiency"
},
{
"code": "35706",
"display": "Glutaric acidemia type 3"
},
{
"code": "35708",
"display": "Aromatic L-amino acid decarboxylase deficiency"
},
{
"code": "35710",
"display": "Glucose-galactose malabsorption"
},
{
"code": "35737",
"display": "Morning glory disc anomaly"
},
{
"code": "35858",
"display": "Imerslund-Gräsbeck syndrome"
},
{
"code": "35878",
"display": "Hyperinsulinism-hyperammonemia syndrome"
},
{
"code": "35889",
"display": "Acute opioid intoxication"
},
{
"code": "35909",
"display": "Combined deficiency of factor V and factor VIII"
},
{
"code": "36234",
"display": "Bacterial toxic-shock syndrome"
},
{
"code": "36235",
"display": "Staphylococcal scarlet fever"
},
{
"code": "36236",
"display": "Staphylococcal scalded skin syndrome"
},
{
"code": "36237",
"display": "Bullous impetigo"
},
{
"code": "36238",
"display": "Staphylococcal necrotizing pneumonia"
},
{
"code": "36258",
"display": "Buerger disease"
},
{
"code": "36273",
"display": "Gastric linitis plastica"
},
{
"code": "36355",
"display": "Bleeding disorder due to P2Y12 defect"
},
{
"code": "36367",
"display": "Distal deletion 1q"
},
{
"code": "36382",
"display": "Familial cervical artery dissection"
},
{
"code": "36383",
"display": "COL4A1/2-related familial vascular leukoencephalopathy"
},
{
"code": "36386",
"display": "Hereditary sensory and autonomic neuropathy type 1"
},
{
"code": "36387",
"display": "Generalized epilepsy with febrile seizures-plus"
},
{
"code": "36397",
"display": "Adiposis dolorosa"
},
{
"code": "36412",
"display": "Hypocomplementemic urticarial vasculitis"
},
{
"code": "36426",
"display": "Stevens-Johnson syndrome"
},
{
"code": "36899",
"display": "Myoclonus-dystonia syndrome"
},
{
"code": "36913",
"display": "Autoimmune hypoparathyroidism"
},
{
"code": "37042",
"display": "Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome"
},
{
"code": "37202",
"display": "Interstitial cystitis"
},
{
"code": "37553",
"display": "Andersen-Tawil syndrome"
},
{
"code": "37559",
"display": "Acquired kinky hair syndrome"
},
{
"code": "37612",
"display": "Episodic ataxia type 1"
},
{
"code": "37748",
"display": "Schnitzler syndrome"
},
{
"code": "38874",
"display": "Dihydropyrimidinuria"
},
{
"code": "39041",
"display": "Omenn syndrome"
},
{
"code": "39044",
"display": "Uveal melanoma"
},
{
"code": "39812",
"display": "Graft versus host disease"
},
{
"code": "40366",
"display": "Acitretin/etretinate embryopathy"
},
{
"code": "40923",
"display": "Eales disease"
},
{
"code": "41751",
"display": "Bietti crystalline dystrophy"
},
{
"code": "42062",
"display": "Iminoglycinuria"
},
{
"code": "42642",
"display": "PFAPA syndrome"
},
{
"code": "42665",
"display": "Tietz syndrome"
},
{
"code": "42775",
"display": "PHACE syndrome"
},
{
"code": "43115",
"display": "Hereditary myopathy with lactic acidosis due to ISCU deficiency"
},
{
"code": "43116",
"display": "Serotonin syndrome"
},
{
"code": "43117",
"display": "Acute tricyclic antidepressant poisoning"
},
{
"code": "43119",
"display": "Acute poisoning by drugs with membrane-stabilizing effect"
},
{
"code": "43393",
"display": "Lambert-Eaton myasthenic syndrome"
},
{
"code": "44890",
"display": "Gastrointestinal stromal tumor"
},
{
"code": "45358",
"display": "Congenital fibrosis of extraocular muscles"
},
{
"code": "45448",
"display": "Miyoshi myopathy"
},
{
"code": "45452",
"display": "Idiopathic neonatal atrial flutter"
},
{
"code": "45453",
"display": "Incessant infant ventricular tachycardia"
},
{
"code": "46059",
"display": "Lathosterolosis"
},
{
"code": "46135",
"display": "Primary central nervous system lymphoma"
},
{
"code": "46348",
"display": "Paroxysmal extreme pain disorder"
},
{
"code": "46486",
"display": "Mucous membrane pemphigoid"
},
{
"code": "46487",
"display": "Epidermolysis bullosa acquisita"
},
{
"code": "46488",
"display": "Linear IgA dermatosis"
},
{
"code": "46532",
"display": "Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome"
},
{
"code": "46627",
"display": "Char syndrome"
},
{
"code": "46724",
"display": "Cerebral arteriovenous malformation"
},
{
"code": "47044",
"display": "Hereditary papillary renal cell carcinoma"
},
{
"code": "47045",
"display": "Familial cold urticaria"
},
{
"code": "47159",
"display": "Proximal renal tubular acidosis"
},
{
"code": "47612",
"display": "Felty syndrome"
},
{
"code": "48104",
"display": "Pyoderma gangrenosum"
},
{
"code": "48162",
"display": "Lewis-Sumner syndrome"
},
{
"code": "48372",
"display": "Nodular regenerative hyperplasia of the liver"
},
{
"code": "48377",
"display": "Subcorneal pustular dermatosis"
},
{
"code": "48431",
"display": "Congenital cataracts-facial dysmorphism-neuropathy syndrome"
},
{
"code": "48435",
"display": "Postinfectious vasculitis"
},
{
"code": "48652",
"display": "Phelan-McDermid syndrome"
},
{
"code": "48686",
"display": "Primary effusion lymphoma"
},
{
"code": "48736",
"display": "Embryonal carcinoma of the central nervous system"
},
{
"code": "48818",
"display": "Aceruloplasminemia"
},
{
"code": "48918",
"display": "Focal myositis"
},
{
"code": "49041",
"display": "IgG4-related retroperitoneal fibrosis"
},
{
"code": "49042",
"display": "Dentinogenesis imperfecta"
},
{
"code": "49382",
"display": "Achromatopsia"
},
{
"code": "49566",
"display": "Acquired purpura fulminans"
},
{
"code": "49804",
"display": "Lichen amyloidosis"
},
{
"code": "49827",
"display": "Thiamine-responsive megaloblastic anemia syndrome"
},
{
"code": "50251",
"display": "Pleural mesothelioma"
},
{
"code": "50809",
"display": "Talo-patello-scaphoid osteolysis"
},
{
"code": "50810",
"display": "Microlissencephaly-micromelia syndrome"
},
{
"code": "50811",
"display": "Lipodystrophy-intellectual disability-deafness syndrome"
},
{
"code": "50812",
"display": "Zellweger-like syndrome without peroxisomal anomalies"
},
{
"code": "50814",
"display": "Craniolenticulosutural dysplasia"
},
{
"code": "50815",
"display": "Branchiogenic deafness syndrome"
},
{
"code": "50817",
"display": "Duane anomaly-myopathy-scoliosis syndrome"
},
{
"code": "50839",
"display": "Cat-scratch disease"
},
{
"code": "50918",
"display": "Kikuchi-Fujimoto disease"
},
{
"code": "50942",
"display": "Striate palmoplantar keratoderma"
},
{
"code": "50943",
"display": "Keratolytic winter erythema"
},
{
"code": "50944",
"display": "Schöpf-Schulz-Passarge syndrome"
},
{
"code": "50945",
"display": "Blomstrand lethal chondrodysplasia"
},
{
"code": "51083",
"display": "Familial short QT syndrome"
},
{
"code": "51084",
"display": "Torsade-de-pointes syndrome with short coupling interval"
},
{
"code": "51188",
"display": "Ethylmalonic encephalopathy"
},
{
"code": "51208",
"display": "Formiminoglutamic aciduria"
},
{
"code": "51608",
"display": "Generalized arterial calcification of infancy"
},
{
"code": "51636",
"display": "WHIM syndrome"
},
{
"code": "51890",
"display": "Anterior cutaneous nerve entrapment syndrome"
},
{
"code": "52022",
"display": "Potocki-Shaffer syndrome"
},
{
"code": "52047",
"display": "Braddock syndrome"
},
{
"code": "52054",
"display": "Craniosynostosis-intracranial calcifications syndrome"
},
{
"code": "52055",
"display": "Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome"
},
{
"code": "52056",
"display": "Ulnar/fibula ray defect-brachydactyly syndrome"
},
{
"code": "52368",
"display": "Mohr-Tranebjaerg syndrome"
},
{
"code": "52416",
"display": "Mantle cell lymphoma"
},
{
"code": "52417",
"display": "MALT lymphoma"
},
{
"code": "52427",
"display": "Retinitis punctata albescens"
},
{
"code": "52429",
"display": "Branchiootic syndrome"
},
{
"code": "52430",
"display": "Inclusion body myopathy with Paget disease of bone and frontotemporal dementia"
},
{
"code": "52503",
"display": "X-linked creatine transporter deficiency"
},
{
"code": "52530",
"display": "Pseudo-von Willebrand disease"
},
{
"code": "52901",
"display": "Isolated follicle stimulating hormone deficiency"
},
{
"code": "52994",
"display": "Orbital leiomyoma"
},
{
"code": "53035",
"display": "Caroli disease"
},
{
"code": "53271",
"display": "Muenke syndrome"
},
{
"code": "53296",
"display": "Familial cutaneous collagenoma"
},
{
"code": "53347",
"display": "Brody myopathy"
},
{
"code": "53351",
"display": "X-linked dystonia-parkinsonism"
},
{
"code": "53372",
"display": "Hereditary geniospasm"
},
{
"code": "53540",
"display": "Goldmann-Favre syndrome"
},
{
"code": "53583",
"display": "Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity"
},
{
"code": "53689",
"display": "Congenital chloride diarrhea"
},
{
"code": "53690",
"display": "Congenital lactase deficiency"
},
{
"code": "53691",
"display": "Congenital cornea plana"
},
{
"code": "53693",
"display": "GRACILE syndrome"
},
{
"code": "53696",
"display": "Arthrogryposis-anterior horn cell disease syndrome"
},
{
"code": "53697",
"display": "Gnathodiaphyseal dysplasia"
},
{
"code": "53698",
"display": "Myosin storage myopathy"
},
{
"code": "53715",
"display": "Familial tumoral calcinosis"
},
{
"code": "53719",
"display": "Wyburn-Mason syndrome"
},
{
"code": "53721",
"display": "Spinal arteriovenous metameric syndrome"
},
{
"code": "54028",
"display": "Plummer-Vinson syndrome"
},
{
"code": "54057",
"display": "Thrombotic thrombocytopenic purpura"
},
{
"code": "54247",
"display": "Posterior cortical atrophy"
},
{
"code": "54251",
"display": "Aseptic abscess syndrome"
},
{
"code": "54260",
"display": "Left ventricular noncompaction"
},
{
"code": "54272",
"display": "Hepatocellular adenoma"
},
{
"code": "54368",
"display": "Sarcocystosis"
},
{
"code": "54370",
"display": "Primary membranoproliferative glomerulonephritis"
},
{
"code": "54595",
"display": "Craniopharyngioma"
},
{
"code": "55595",
"display": "TNP03-related limb-girdle muscular dystrophy D2"
},
{
"code": "55596",
"display": "HNRNPDL-related limb-girdle muscular dystrophy D3"
},
{
"code": "55654",
"display": "Hypotrichosis simplex"
},
{
"code": "55655",
"display": "Pneumococcal meningitis"
},
{
"code": "55880",
"display": "Chondrosarcoma"
},
{
"code": "55881",
"display": "Adamantinoma"
},
{
"code": "56304",
"display": "Atelosteogenesis type II"
},
{
"code": "56305",
"display": "Atelosteogenesis type III"
},
{
"code": "56425",
"display": "Cold agglutinin disease"
},
{
"code": "57145",
"display": "SUNCT syndrome"
},
{
"code": "57196",
"display": "Medial condensing osteitis of the clavicle"
},
{
"code": "57777",
"display": "Cirrhotic cardiomyopathy"
},
{
"code": "57782",
"display": "Mazabraud syndrome"
},
{
"code": "58017",
"display": "Classic hairy cell leukemia"
},
{
"code": "58040",
"display": "Osteoblastoma"
},
{
"code": "59135",
"display": "Laing early-onset distal myopathy"
},
{
"code": "59181",
"display": "Sorsby pseudoinflammatory fundus dystrophy"
},
{
"code": "59298",
"display": "Schilder disease"
},
{
"code": "59303",
"display": "Neonatal ichthyosis-sclerosing cholangitis syndrome"
},
{
"code": "59306",
"display": "McLeod neuroacanthocytosis syndrome"
},
{
"code": "59315",
"display": "Rhombencephalosynapsis"
},
{
"code": "60014",
"display": "Argyria"
},
{
"code": "60015",
"display": "Enlarged parietal foramina"
},
{
"code": "60025",
"display": "Pulmonary alveolar microlithiasis"
},
{
"code": "60026",
"display": "Pulmonary nodular lymphoid hyperplasia"
},
{
"code": "60030",
"display": "Loeys-Dietz syndrome"
},
{
"code": "60032",
"display": "Recurrent respiratory papillomatosis"
},
{
"code": "60033",
"display": "Idiopathic bronchiectasis"
},
{
"code": "60039",
"display": "Pudendal nerve entrapment syndrome"
},
{
"code": "60040",
"display": "Megalencephaly-capillary malformation-polymicrogyria syndrome"
},
{
"code": "60041",
"display": "Congenital heart block"
},
{
"code": "63259",
"display": "Iniencephaly"
},
{
"code": "63260",
"display": "Craniorachischisis"
},
{
"code": "63269",
"display": "Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis"
},
{
"code": "63273",
"display": "Distal myopathy with posterior leg and anterior hand involvement"
},
{
"code": "63275",
"display": "Pemphigoid gestationis"
},
{
"code": "63442",
"display": "Angel-shaped phalango-epiphyseal dysplasia"
},
{
"code": "63446",
"display": "Acrocapitofemoral dysplasia"
},
{
"code": "63455",
"display": "Paraneoplastic pemphigus"
},
{
"code": "63862",
"display": "Schisis association"
},
{
"code": "63999",
"display": "IgG4-related mediastinitis"
},
{
"code": "64280",
"display": "Childhood absence epilepsy"
},
{
"code": "64542",
"display": "Acrofacial dysostosis, Kennedy-Teebi type"
},
{
"code": "64545",
"display": "Benign idiopathic neonatal seizures"
},
{
"code": "64686",
"display": "Tolosa-Hunt syndrome"
},
{
"code": "64692",
"display": "Bartonella bacilliformis infection"
},
{
"code": "64694",
"display": "Trench fever"
},
{
"code": "64720",
"display": "Leiomyosarcoma"
},
{
"code": "64722",
"display": "Granulomatous mastitis"
},
{
"code": "64734",
"display": "Iridocorneal endothelial syndrome"
},
{
"code": "64739",
"display": "Ovarian hyperstimulation syndrome"
},
{
"code": "64741",
"display": "Pulmonary blastoma"
},
{
"code": "64742",
"display": "Pleuropulmonary blastoma"
},
{
"code": "64743",
"display": "Hepatoportal sclerosis"
},
{
"code": "64744",
"display": "IgG4-related thyroid disease"
},
{
"code": "64745",
"display": "Pruritic urticarial papules and plaques of pregnancy"
},
{
"code": "64748",
"display": "Dejerine-Sottas syndrome"
},
{
"code": "64751",
"display": "Hereditary motor and sensory neuropathy type 5"
},
{
"code": "64752",
"display": "Hereditary sensory and autonomic neuropathy type 5"
},
{
"code": "64753",
"display": "Spinocerebellar ataxia with axonal neuropathy type 2"
},
{
"code": "64754",
"display": "Nevus comedonicus syndrome"
},
{
"code": "64755",
"display": "Becker nevus syndrome"
},
{
"code": "65282",
"display": "Carvajal syndrome"
},
{
"code": "65283",
"display": "Timothy syndrome"
},
{
"code": "65284",
"display": "Biotin-thiamine-responsive basal ganglia disease"
},
{
"code": "65285",
"display": "Lhermitte-Duclos disease"
},
{
"code": "65286",
"display": "3q29 microdeletion syndrome"
},
{
"code": "65287",
"display": "Beta-ureidopropionase deficiency"
},
{
"code": "65288",
"display": "Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome"
},
{
"code": "65681",
"display": "Vaginal atresia"
},
{
"code": "65682",
"display": "Benign recurrent intrahepatic cholestasis"
},
{
"code": "65683",
"display": "Isolated focal cortical dysplasia"
},
{
"code": "65684",
"display": "Monomelic amyotrophy"
},
{
"code": "65720",
"display": "Arthrogryposis-severe scoliosis syndrome"
},
{
"code": "65743",
"display": "Autosomal dominant multiple pterygium syndrome"
},
{
"code": "65748",
"display": "Multiple self-healing squamous epithelioma"
},
{
"code": "65759",
"display": "Carpenter syndrome"
},
{
"code": "66518",
"display": "Short fifth metacarpals-insulin resistance syndrome"
},
{
"code": "66529",
"display": "Tako-Tsubo cardiomyopathy"
},
{
"code": "66624",
"display": "PANDAS"
},
{
"code": "66625",
"display": "Cerebrooculonasal syndrome"
},
{
"code": "66627",
"display": "Tenosynovial giant cell tumor"
},
{
"code": "66628",
"display": "Obesity due to congenital leptin deficiency"
},
{
"code": "66629",
"display": "Goldberg-Shprintzen megacolon syndrome"
},
{
"code": "66630",
"display": "Congenital pseudoarthrosis of the clavicle"
},
{
"code": "66631",
"display": "CEDNIK syndrome"
},
{
"code": "66633",
"display": "Sensorineural hearing loss-early graying-essential tremor syndrome"
},
{
"code": "66634",
"display": "Dilated cardiomyopathy with ataxia"
},
{
"code": "66637",
"display": "Diaphanospondylodysostosis"
},
{
"code": "66661",
"display": "Mast cell sarcoma"
},
{
"code": "66662",
"display": "Extracutaneous mastocytoma"
},
{
"code": "67036",
"display": "Autosomal dominant optic atrophy and cataract"
},
{
"code": "67038",
"display": "B-cell chronic lymphocytic leukemia"
},
{
"code": "67039",
"display": "Segmental odontomaxillary dysplasia"
},
{
"code": "67041",
"display": "Hyaluronidase deficiency"
},
{
"code": "67042",
"display": "Late-onset retinal degeneration"
},
{
"code": "67043",
"display": "Amoebic keratitis"
},
{
"code": "67044",
"display": "Thrombocytopenia with congenital dyserythropoietic anemia"
},
{
"code": "67045",
"display": "X-linked intellectual disability with isolated growth hormone deficiency"
},
{
"code": "67046",
"display": "3-methylglutaconic aciduria type 1"
},
{
"code": "67047",
"display": "3-methylglutaconic aciduria type 3"
},
{
"code": "67048",
"display": "3-methylglutaconic aciduria type 4"
},
{
"code": "69061",
"display": "Idiopathic steroid-sensitive nephrotic syndrome"
},
{
"code": "69063",
"display": "Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization"
},
{
"code": "69076",
"display": "Familial renal glucosuria"
},
{
"code": "69077",
"display": "Rhabdoid tumor"
},
{
"code": "69078",
"display": "Liposarcoma"
},
{
"code": "69082",
"display": "Odonto-tricho-ungual-digito-palmar syndrome"
},
{
"code": "69083",
"display": "Ectodermal dysplasia with natal teeth, Turnpenny type"
},
{
"code": "69084",
"display": "Pure hair and nail ectodermal dysplasia"
},
{
"code": "69085",
"display": "Limb-mammary syndrome"
},
{
"code": "69087",
"display": "Naegeli-Franceschetti-Jadassohn syndrome"
},
{
"code": "69088",
"display": "Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome"
},
{
"code": "69125",
"display": "Anonychia with flexural pigmentation"
},
{
"code": "69126",
"display": "PAPA syndrome"
},
{
"code": "69663",
"display": "Low phospholipid-associated cholelithiasis"
},
{
"code": "69665",
"display": "Intrahepatic cholestasis of pregnancy"
},
{
"code": "69723",
"display": "Tyrosinemia type 3"
},
{
"code": "69735",
"display": "Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome"
},
{
"code": "69736",
"display": "Bilateral acute depigmentation of the iris"
},
{
"code": "69737",
"display": "Bosley-Salih-Alorainy syndrome"
},
{
"code": "69739",
"display": "Athabaskan brainstem dysgenesis syndrome"
},
{
"code": "69744",
"display": "Circumscribed palmoplantar hypokeratosis"
},
{
"code": "69745",
"display": "Warty dyskeratoma"
},
{
"code": "70472",
"display": "Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type"
},
{
"code": "70475",
"display": "Radiation proctitis"
},
{
"code": "70476",
"display": "Vernal keratoconjunctivitis"
},
{
"code": "70567",
"display": "Cholangiocarcinoma"
},
{
"code": "70568",
"display": "Post-transplant lymphoproliferative disease"
},
{
"code": "70573",
"display": "Small cell lung cancer"
},
{
"code": "70578",
"display": "Adult acute respiratory distress syndrome"
},
{
"code": "70587",
"display": "Infant acute respiratory distress syndrome"
},
{
"code": "70588",
"display": "Meconium aspiration syndrome"
},
{
"code": "70589",
"display": "Bronchopulmonary dysplasia"
},
{
"code": "70590",
"display": "Infantile apnea"
},
{
"code": "70591",
"display": "Chronic thromboembolic pulmonary hypertension"
},
{
"code": "70592",
"display": "Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency"
},
{
"code": "70593",
"display": "Immunodeficiency due to selective anti-polysaccharide antibody deficiency"
},
{
"code": "70594",
"display": "Dopa-responsive dystonia due to sepiapterin reductase deficiency"
},
{
"code": "70595",
"display": "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
},
{
"code": "70596",
"display": "Congenital Epstein-Barr virus infection"
},
{
"code": "71211",
"display": "Neuromyelitis optica spectrum disorder"
},
{
"code": "71212",
"display": "Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency"
},
{
"code": "71213",
"display": "Retinal capillary malformation"
},
{
"code": "71267",
"display": "Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome"
},
{
"code": "71271",
"display": "Split hand-split foot-deafness syndrome"
},
{
"code": "71272",
"display": "Sandifer syndrome"
},
{
"code": "71273",
"display": "Renal nutcracker syndrome"
},
{
"code": "71274",
"display": "Disseminated peritoneal leiomyomatosis"
},
{
"code": "71275",
"display": "Rh deficiency syndrome"
},
{
"code": "71276",
"display": "Silent sinus syndrome"
},
{
"code": "71277",
"display": "Classic glucose transporter type 1 deficiency syndrome"
},
{
"code": "71278",
"display": "Congenital brain dysgenesis due to glutamine synthetase deficiency"
},
{
"code": "71279",
"display": "CANOMAD syndrome"
},
{
"code": "71289",
"display": "Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome"
},
{
"code": "71290",
"display": "Familial platelet disorder with associated myeloid malignancy"
},
{
"code": "71493",
"display": "Familial thrombocytosis"
},
{
"code": "71505",
"display": "Cancer-associated retinopathy"
},
{
"code": "71517",
"display": "Rapid-onset dystonia-parkinsonism"
},
{
"code": "71518",
"display": "Benign paroxysmal torticollis of infancy"
},
{
"code": "71519",
"display": "Psychogenic movement disorders"
},
{
"code": "71526",
"display": "Obesity due to pro-opiomelanocortin deficiency"
},
{
"code": "71528",
"display": "Obesity due to prohormone convertase I deficiency"
},
{
"code": "71529",
"display": "Obesity due to melanocortin 4 receptor deficiency"
},
{
"code": "73223",
"display": "Global developmental delay-osteopenia-ectodermal defect syndrome"
},
{
"code": "73224",
"display": "Kidney tubulopathy-dilated cardiomyopathy syndrome"
},
{
"code": "73229",
"display": "HANAC syndrome"
},
{
"code": "73230",
"display": "Ossification anomalies-psychomotor developmental delay syndrome"
},
{
"code": "73245",
"display": "Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome"
},
{
"code": "73246",
"display": "Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome"
},
{
"code": "73256",
"display": "Central neurocytoma"
},
{
"code": "73260",
"display": "Paracoccidioidomycosis"
},
{
"code": "73263",
"display": "Zygomycosis"
},
{
"code": "73267",
"display": "Non-24-hour sleep-wake syndrome"
},
{
"code": "73271",
"display": "Bleeding diathesis due to a collagen receptor defect"
},
{
"code": "73272",
"display": "Growth delay due to insulin-like growth factor type 1 deficiency"
},
{
"code": "73273",
"display": "Growth delay due to insulin-like growth factor I resistance"
},
{
"code": "73423",
"display": "Acute ackee fruit intoxication"
},
{
"code": "75233",
"display": "Wolman disease"
},
{
"code": "75234",
"display": "Cholesteryl ester storage disease"
},
{
"code": "75249",
"display": "Familial isolated restrictive cardiomyopathy"
},
{
"code": "75325",
"display": "Osteosclerosis-ichthyosis-premature ovarian failure syndrome"
},
{
"code": "75326",
"display": "Familial isolated retinal arteriolar tortuosity"
},
{
"code": "75327",
"display": "North Carolina macular dystrophy"
},
{
"code": "75373",
"display": "Progressive bifocal chorioretinal atrophy"
},
{
"code": "75374",
"display": "Bradyopsia"
},
{
"code": "75376",
"display": "Familial drusen"
},
{
"code": "75377",
"display": "Central areolar choroidal dystrophy"
},
{
"code": "75378",
"display": "Oligocone trichromacy"
},
{
"code": "75381",
"display": "Cystoid macular dystrophy"
},
{
"code": "75382",
"display": "Oguchi disease"
},
{
"code": "75389",
"display": "Brain malformation-congenital heart disease-postaxial polydactyly syndrome"
},
{
"code": "75391",
"display": "Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency"
},
{
"code": "75392",
"display": "Periodontal Ehlers-Danlos syndrome"
},
{
"code": "75496",
"display": "B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome"
},
{
"code": "75497",
"display": "X-linked Ehlers-Danlos syndrome"
},
{
"code": "75508",
"display": "Angioosteohypotrophic syndrome"
},
{
"code": "75563",
"display": "X-linked sideroblastic anemia"
},
{
"code": "75564",
"display": "Acquired idiopathic sideroblastic anemia"
},
{
"code": "75565",
"display": "Tropical endomyocardial fibrosis"
},
{
"code": "75566",
"display": "Loeffler endocarditis"
},
{
"code": "75567",
"display": "Primary progressive freezing gait"
},
{
"code": "75840",
"display": "Ullrich congenital muscular dystrophy"
},
{
"code": "75857",
"display": "6q terminal deletion syndrome"
},
{
"code": "75858",
"display": "MORM syndrome"
},
{
"code": "77258",
"display": "Trichorhinophalangeal syndrome type 1"
},
{
"code": "77259",
"display": "Gaucher disease type 1"
},
{
"code": "77260",
"display": "Gaucher disease type 2"
},
{
"code": "77261",
"display": "Gaucher disease type 3"
},
{
"code": "77292",
"display": "Infantile neurovisceral acid sphingomyelinase deficiency"
},
{
"code": "77293",
"display": "Chronic visceral acid sphingomyelinase deficiency"
},
{
"code": "77295",
"display": "Odontoleukodystrophy"
},
{
"code": "77296",
"display": "Morgagni-Stewart-Morel syndrome"
},
{
"code": "77297",
"display": "Majeed syndrome"
},
{
"code": "77298",
"display": "Anophthalmia/microphthalmia-esophageal atresia syndrome"
},
{
"code": "77299",
"display": "Microphthalmia-brain atrophy syndrome"
},
{
"code": "77300",
"display": "Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome"
},
{
"code": "77301",
"display": "Monosomy 9q22.3"
},
{
"code": "79076",
"display": "Juvenile polyposis of infancy"
},
{
"code": "79078",
"display": "IgG4-related dacryoadenitis and sialadenitis"
},
{
"code": "79083",
"display": "PPARG-related familial partial lipodystrophy"
},
{
"code": "79084",
"display": "Familial partial lipodystrophy, Köbberling type"
},
{
"code": "79085",
"display": "AKT2-related familial partial lipodystrophy"
},
{
"code": "79086",
"display": "Acquired generalized lipodystrophy"
},
{
"code": "79087",
"display": "Acquired partial lipodystrophy"
},
{
"code": "79091",
"display": "Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome"
},
{
"code": "79093",
"display": "Foix-Alajouanine syndrome"
},
{
"code": "79094",
"display": "Grange syndrome"
},
{
"code": "79095",
"display": "Congenital bile acid synthesis defect type 4"
},
{
"code": "79096",
"display": "Pyridoxal phosphate-responsive seizures"
},
{
"code": "79097",
"display": "Folinic acid-responsive seizures"
},
{
"code": "79098",
"display": "Sympathetic ophthalmia"
},
{
"code": "79099",
"display": "Interstitial granulomatous dermatitis with arthritis"
},
{
"code": "79100",
"display": "Atrophoderma vermiculata"
},
{
"code": "79101",
"display": "Hyperprolinemia type 2"
},
{
"code": "79102",
"display": "Thyrotoxic periodic paralysis"
},
{
"code": "79105",
"display": "Myxofibrosarcoma"
},
{
"code": "79106",
"display": "Eiken syndrome"
},
{
"code": "79107",
"display": "Developmental malformations-deafness-dystonia syndrome"
},
{
"code": "79113",
"display": "Mandibulofacial dysostosis-microcephaly syndrome"
},
{
"code": "79118",
"display": "Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome"
},
{
"code": "79124",
"display": "Hepatic veno-occlusive disease-immunodeficiency syndrome"
},
{
"code": "79126",
"display": "Acute interstitial pneumonia"
},
{
"code": "79127",
"display": "Respiratory bronchiolitis-interstitial lung disease syndrome"
},
{
"code": "79128",
"display": "Lymphoid interstitial pneumonia"
},
{
"code": "79129",
"display": "Trichodysplasia-amelogenesis imperfecta syndrome"
},
{
"code": "79133",
"display": "Focal facial dermal dysplasia type I"
},
{
"code": "79134",
"display": "DEND syndrome"
},
{
"code": "79135",
"display": "Episodic ataxia type 3"
},
{
"code": "79136",
"display": "Episodic ataxia type 4"
},
{
"code": "79137",
"display": "Generalized epilepsy-paroxysmal dyskinesia syndrome"
},
{
"code": "79138",
"display": "Bickerstaff brainstem encephalitis"
},
{
"code": "79139",
"display": "Japanese encephalitis"
},
{
"code": "79140",
"display": "Cutaneous neuroendocrine carcinoma"
},
{
"code": "79141",
"display": "Hereditary painful callosities"
},
{
"code": "79143",
"display": "Isolated congenital anonychia"
},
{
"code": "79144",
"display": "Isolated congenital onychodysplasia"
},
{
"code": "79145",
"display": "Dowling-Degos disease"
},
{
"code": "79146",
"display": "Familial progressive hyperpigmentation"
},
{
"code": "79147",
"display": "Familial reactive perforating collagenosis"
},
{
"code": "79148",
"display": "Elastosis perforans serpiginosa"
},
{
"code": "79149",
"display": "Dermochondrocorneal dystrophy"
},
{
"code": "79150",
"display": "Linear and whorled nevoid hypermelanosis"
},
{
"code": "79151",
"display": "Acrokeratosis verruciformis of Hopf"
},
{
"code": "79152",
"display": "Disseminated superficial actinic porokeratosis"
},
{
"code": "79153",
"display": "Idiopathic trachyonychia"
},
{
"code": "79154",
"display": "2-aminoadipic 2-oxoadipic aciduria"
},
{
"code": "79155",
"display": "Hydroxykynureninuria"
},
{
"code": "79156",
"display": "Seizures-intellectual disability due to hydroxylysinuria syndrome"
},
{
"code": "79157",
"display": "2-methylbutyryl-CoA dehydrogenase deficiency"
},
{
"code": "79159",
"display": "Isobutyryl-CoA dehydrogenase deficiency"
},
{
"code": "79230",
"display": "HJV or HAMP-related hemochromatosis"
},
{
"code": "79233",
"display": "Hypoxanthine guanine phosphoribosyltransferase partial deficiency"
},
{
"code": "79234",
"display": "Crigler-Najjar syndrome type 1"
},
{
"code": "79235",
"display": "Crigler-Najjar syndrome type 2"
},
{
"code": "79237",
"display": "Galactokinase deficiency"
},
{
"code": "79238",
"display": "Galactose epimerase deficiency"
},
{
"code": "79239",
"display": "Classic galactosemia"
},
{
"code": "79240",
"display": "Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency"
},
{
"code": "79241",
"display": "Biotinidase deficiency"
},
{
"code": "79242",
"display": "Holocarboxylase synthetase deficiency"
},
{
"code": "79243",
"display": "Pyruvate dehydrogenase E1-alpha deficiency"
},
{
"code": "79244",
"display": "Pyruvate dehydrogenase E2 deficiency"
},
{
"code": "79246",
"display": "Pyruvate dehydrogenase phosphatase deficiency"
},
{
"code": "79253",
"display": "Mild phenylketonuria"
},
{
"code": "79254",
"display": "Classic phenylketonuria"
},
{
"code": "79255",
"display": "GM1 gangliosidosis type 1"
},
{
"code": "79256",
"display": "GM1 gangliosidosis type 2"
},
{
"code": "79257",
"display": "GM1 gangliosidosis type 3"
},
{
"code": "79258",
"display": "Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia"
},
{
"code": "79259",
"display": "Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib"
},
{
"code": "79269",
"display": "Sanfilippo syndrome type A"
},
{
"code": "79270",
"display": "Sanfilippo syndrome type B"
},
{
"code": "79271",
"display": "Sanfilippo syndrome type C"
},
{
"code": "79272",
"display": "Sanfilippo syndrome type D"
},
{
"code": "79273",
"display": "Hereditary coproporphyria"
},
{
"code": "79276",
"display": "Acute intermittent porphyria"
},
{
"code": "79277",
"display": "Congenital erythropoietic porphyria"
},
{
"code": "79278",
"display": "Autosomal erythropoietic protoporphyria"
},
{
"code": "79279",
"display": "Alpha-N-acetylgalactosaminidase deficiency type 1"
},
{
"code": "79280",
"display": "Alpha-N-acetylgalactosaminidase deficiency type 2"
},
{
"code": "79281",
"display": "Alpha-N-acetylgalactosaminidase deficiency type 3"
},
{
"code": "79282",
"display": "Methylmalonic acidemia with homocystinuria, type cblC"
},
{
"code": "79283",
"display": "Methylmalonic acidemia with homocystinuria, type cblD"
},
{
"code": "79284",
"display": "Methylmalonic acidemia with homocystinuria type cblF"
},
{
"code": "79292",
"display": "Fish-eye disease"
},
{
"code": "79293",
"display": "Familial LCAT deficiency"
},
{
"code": "79299",
"display": "Congenital glucokinase-related hyperinsulinism"
},
{
"code": "79301",
"display": "Congenital bile acid synthesis defect type 1"
},
{
"code": "79302",
"display": "Congenital bile acid synthesis defect type 3"
},
{
"code": "79303",
"display": "Congenital bile acid synthesis defect type 2"
},
{
"code": "79304",
"display": "Progressive familial intrahepatic cholestasis type 2"
},
{
"code": "79305",
"display": "Progressive familial intrahepatic cholestasis type 3"
},
{
"code": "79306",
"display": "Progressive familial intrahepatic cholestasis type 1"
},
{
"code": "79310",
"display": "Vitamin B12-responsive methylmalonic acidemia type cblA"
},
{
"code": "79311",
"display": "Vitamin B12-responsive methylmalonic acidemia type cblB"
},
{
"code": "79312",
"display": "Vitamin B12-unresponsive methylmalonic acidemia type mut-"
},
{
"code": "79314",
"display": "L-2-hydroxyglutaric aciduria"
},
{
"code": "79315",
"display": "D-2-hydroxyglutaric aciduria"
},
{
"code": "79318",
"display": "PMM2-CDG"
},
{
"code": "79319",
"display": "MPI-CDG"
},
{
"code": "79320",
"display": "ALG6-CDG"
},
{
"code": "79321",
"display": "ALG3-CDG"
},
{
"code": "79322",
"display": "DPM1-CDG"
},
{
"code": "79323",
"display": "MPDU1-CDG"
},
{
"code": "79324",
"display": "ALG12-CDG"
},
{
"code": "79325",
"display": "ALG8-CDG"
},
{
"code": "79326",
"display": "ALG2-CDG"
},
{
"code": "79327",
"display": "ALG1-CDG"
},
{
"code": "79328",
"display": "ALG9-CDG"
},
{
"code": "79329",
"display": "MGAT2-CDG"
},
{
"code": "79330",
"display": "MOGS-CDG"
},
{
"code": "79332",
"display": "B4GALT1-CDG"
},
{
"code": "79333",
"display": "COG7-CDG"
},
{
"code": "79345",
"display": "Brachytelephalangic chondrodysplasia punctata"
},
{
"code": "79346",
"display": "Chondrodysplasia punctata, tibial-metacarpal type"
},
{
"code": "79347",
"display": "Chondrodysplasia punctata, Toriello type"
},
{
"code": "79350",
"display": "3-phosphoserine phosphatase deficiency, infantile/juvenile form"
},
{
"code": "79351",
"display": "3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form"
},
{
"code": "79394",
"display": "Congenital ichthyosiform erythroderma"
},
{
"code": "79395",
"display": "Keratoderma hereditarium mutilans with ichthyosis"
},
{
"code": "79396",
"display": "Autosomal dominant generalized epidermolysis bullosa simplex, severe form"
},
{
"code": "79397",
"display": "Epidermolysis bullosa simplex with mottled pigmentation"
},
{
"code": "79399",
"display": "Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form"
},
{
"code": "79400",
"display": "Localized epidermolysis bullosa simplex"
},
{
"code": "79401",
"display": "PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement"
},
{
"code": "79402",
"display": "Intermediate generalized junctional epidermolysis bullosa"
},
{
"code": "79403",
"display": "Junctional epidermolysis bullosa with pyloric atresia"
},
{
"code": "79404",
"display": "Severe generalized junctional epidermolysis bullosa"
},
{
"code": "79405",
"display": "Junctional epidermolysis bullosa inversa"
},
{
"code": "79406",
"display": "Late-onset junctional epidermolysis bullosa"
},
{
"code": "79408",
"display": "Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form"
},
{
"code": "79409",
"display": "Recessive dystrophic epidermolysis bullosa inversa"
},
{
"code": "79410",
"display": "Localized dystrophic epidermolysis bullosa, pretibial form"
},
{
"code": "79411",
"display": "Self-improving dystrophic epidermolysis bullosa"
},
{
"code": "79414",
"display": "Woolly hair nevus"
},
{
"code": "79430",
"display": "Hermansky-Pudlak syndrome"
},
{
"code": "79431",
"display": "Oculocutaneous albinism type 1A"
},
{
"code": "79432",
"display": "Oculocutaneous albinism type 2"
},
{
"code": "79433",
"display": "Oculocutaneous albinism type 3"
},
{
"code": "79434",
"display": "Oculocutaneous albinism type 1B"
},
{
"code": "79435",
"display": "Oculocutaneous albinism type 4"
},
{
"code": "79443",
"display": "Pseudohypoparathyroidism type 1A"
},
{
"code": "79444",
"display": "Pseudohypoparathyroidism type 1C"
},
{
"code": "79445",
"display": "Pseudopseudohypoparathyroidism"
},
{
"code": "79447",
"display": "X-linked lethal multiple pterygium syndrome"
},
{
"code": "79452",
"display": "Milroy disease"
},
{
"code": "79455",
"display": "Cutaneous mastocytoma"
},
{
"code": "79456",
"display": "Diffuse cutaneous mastocytosis"
},
{
"code": "79457",
"display": "Maculopapular cutaneous mastocytosis"
},
{
"code": "79466",
"display": "Inflammatory linear verrucous epidermal nevus"
},
{
"code": "79467",
"display": "Verrucous nevus"
},
{
"code": "79468",
"display": "Acanthokeratolytic verrucous nevus"
},
{
"code": "79473",
"display": "Variegate porphyria"
},
{
"code": "79474",
"display": "Atypical Werner syndrome"
},
{
"code": "79476",
"display": "Griscelli syndrome type 1"
},
{
"code": "79477",
"display": "Griscelli syndrome type 2"
},
{
"code": "79478",
"display": "Griscelli syndrome type 3"
},
{
"code": "79479",
"display": "Pemphigus vegetans"
},
{
"code": "79480",
"display": "Pemphigus erythematosus"
},
{
"code": "79481",
"display": "Pemphigus foliaceus"
},
{
"code": "79483",
"display": "Phakomatosis cesioflammea"
},
{
"code": "79484",
"display": "Phakomatosis cesiomarmorata"
},
{
"code": "79485",
"display": "Phakomatosis spilorosea"
},
{
"code": "79489",
"display": "Macrocystic lymphatic malformation"
},
{
"code": "79490",
"display": "Microcystic lymphatic malformation"
},
{
"code": "79492",
"display": "Pili gemini"
},
{
"code": "79493",
"display": "Brooke-Spiegler syndrome"
},
{
"code": "79495",
"display": "X-linked congenital generalized hypertrichosis"
},
{
"code": "79499",
"display": "Autosomal dominant deafness-onychodystrophy syndrome"
},
{
"code": "79500",
"display": "DOORS syndrome"
},
{
"code": "79501",
"display": "Punctate palmoplantar keratoderma type 1"
},
{
"code": "79502",
"display": "Punctate palmoplantar keratoderma type 2"
},
{
"code": "79503",
"display": "Ichthyosis hystrix of Curth-Macklin"
},
{
"code": "79506",
"display": "Cholesterol-ester transfer protein deficiency"
},
{
"code": "79507",
"display": "Hypotonia-failure to thrive-microcephaly syndrome"
},
{
"code": "79643",
"display": "Autosomal recessive hyperinsulinism due to SUR1 deficiency"
},
{
"code": "79644",
"display": "Autosomal recessive hyperinsulinism due to Kir6.2 deficiency"
},
{
"code": "79651",
"display": "Mild hyperphenylalaninemia"
},
{
"code": "79665",
"display": "Gardner syndrome"
},
{
"code": "83311",
"display": "Rocky Mountain spotted fever"
},
{
"code": "83312",
"display": "Rickettsialpox"
},
{
"code": "83313",
"display": "Boutonneuse fever"
},
{
"code": "83314",
"display": "Epidemic typhus"
},
{
"code": "83315",
"display": "Murine typhus"
},
{
"code": "83316",
"display": "Pseudotyphus of California"
},
{
"code": "83317",
"display": "Scrub typhus"
},
{
"code": "83330",
"display": "Proximal spinal muscular atrophy type 1"
},
{
"code": "83418",
"display": "Proximal spinal muscular atrophy type 2"
},
{
"code": "83419",
"display": "Proximal spinal muscular atrophy type 3"
},
{
"code": "83420",
"display": "Proximal spinal muscular atrophy type 4"
},
{
"code": "83450",
"display": "Regional odontodysplasia"
},
{
"code": "83451",
"display": "Florid cemento-osseous dysplasia"
},
{
"code": "83452",
"display": "Complex regional pain syndrome"
},
{
"code": "83453",
"display": "Vulvovaginal gingival syndrome"
},
{
"code": "83454",
"display": "Glomuvenous malformation"
},
{
"code": "83461",
"display": "Congenital primary aphakia"
},
{
"code": "83463",
"display": "Microtia"
},
{
"code": "83465",
"display": "Narcolepsy type 2"
},
{
"code": "83467",
"display": "Morvan syndrome"
},
{
"code": "83468",
"display": "Solitary bone cyst"
},
{
"code": "83469",
"display": "Desmoplastic small round cell tumor"
},
{
"code": "83471",
"display": "T-cell immunodeficiency with thymic aplasia"
},
{
"code": "83472",
"display": "CAMOS syndrome"
},
{
"code": "83473",
"display": "Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome"
},
{
"code": "83476",
"display": "West-Nile encephalitis"
},
{
"code": "83482",
"display": "Mycoplasma encephalitis"
},
{
"code": "83483",
"display": "La Crosse encephalitis"
},
{
"code": "83484",
"display": "St. Louis encephalitis"
},
{
"code": "83593",
"display": "Western equine encephalitis"
},
{
"code": "83594",
"display": "Eastern equine encephalitis"
},
{
"code": "83595",
"display": "Colorado tick fever"
},
{
"code": "83597",
"display": "Acute disseminated encephalomyelitis"
},
{
"code": "83600",
"display": "Encephalitis lethargica"
},
{
"code": "83601",
"display": "Steroid-responsive encephalopathy associated with autoimmune thyroiditis"
},
{
"code": "83616",
"display": "Rubella panencephalitis"
},
{
"code": "83617",
"display": "Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome"
},
{
"code": "83619",
"display": "Macrostomia-preauricular tags-external ophthalmoplegia syndrome"
},
{
"code": "83620",
"display": "Enteric anendocrinosis"
},
{
"code": "83628",
"display": "LUMBAR syndrome"
},
{
"code": "83629",
"display": "Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome"
},
{
"code": "83639",
"display": "Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency"
},
{
"code": "83642",
"display": "Microcytic anemia with liver iron overload"
},
{
"code": "84064",
"display": "Syndromic diarrhea"
},
{
"code": "84065",
"display": "Idiopathic malabsorption due to bile acid synthesis defects"
},
{
"code": "84081",
"display": "Senior-Boichis syndrome"
},
{
"code": "84085",
"display": "Hinman syndrome"
},
{
"code": "84087",
"display": "Collagen type III glomerulopathy"
},
{
"code": "84090",
"display": "Fibronectin glomerulopathy"
},
{
"code": "84093",
"display": "Hereditary thermosensitive neuropathy"
},
{
"code": "84132",
"display": "Desmin-related myopathy with Mallory body-like inclusions"
},
{
"code": "84142",
"display": "Isaacs syndrome"
},
{
"code": "85110",
"display": "Familial encephalopathy with neuroserpin inclusion bodies"
},
{
"code": "85112",
"display": "Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome"
},
{
"code": "85128",
"display": "Bothnia retinal dystrophy"
},
{
"code": "85136",
"display": "Cystic leukoencephalopathy without megalencephaly"
},
{
"code": "85138",
"display": "Addison disease"
},
{
"code": "85146",
"display": "Neurogenic scapuloperoneal syndrome, Kaeser type"
},
{
"code": "85162",
"display": "Facial onset sensory and motor neuronopathy"
},
{
"code": "85163",
"display": "Hypomyelination-congenital cataract syndrome"
},
{
"code": "85164",
"display": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome"
},
{
"code": "85165",
"display": "Severe achondroplasia-developmental delay-acanthosis nigricans syndrome"
},
{
"code": "85166",
"display": "Platyspondylic dysplasia, Torrance type"
},
{
"code": "85167",
"display": "Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome"
},
{
"code": "85168",
"display": "Craniofacial conodysplasia"
},
{
"code": "85169",
"display": "Familial digital arthropathy-brachydactyly"
},
{
"code": "85170",
"display": "Mesomelic dysplasia, Savarirayan type"
},
{
"code": "85172",
"display": "Microcephalic osteodysplastic dysplasia, Saul-Wilson type"
},
{
"code": "85173",
"display": "IMAGe syndrome"
},
{
"code": "85174",
"display": "Pseudodiastrophic dysplasia"
},
{
"code": "85175",
"display": "Astley-Kendall dysplasia"
},
{
"code": "85179",
"display": "Infantile osteopetrosis with neuroaxonal dysplasia"
},
{
"code": "85182",
"display": "Diaphyseal medullary stenosis-bone malignancy syndrome"
},
{
"code": "85184",
"display": "Craniometadiaphyseal dysplasia, wormian bone type"
},
{
"code": "85186",
"display": "Endosteal sclerosis-cerebellar hypoplasia syndrome"
},
{
"code": "85188",
"display": "Metaphyseal dysplasia, Braun-Tinschert type"
},
{
"code": "85191",
"display": "Singleton-Merten dysplasia"
},
{
"code": "85192",
"display": "Calvarial doughnut lesions-bone fragility syndrome"
},
{
"code": "85193",
"display": "Idiopathic juvenile osteoporosis"
},
{
"code": "85194",
"display": "Spondylo-ocular syndrome"
},
{
"code": "85195",
"display": "Familial expansile osteolysis"
},
{
"code": "85197",
"display": "Genochondromatosis type 1"
},
{
"code": "85198",
"display": "Dysspondyloenchondromatosis"
},
{
"code": "85199",
"display": "Craniosynostosis-anal anomalies-porokeratosis syndrome"
},
{
"code": "85201",
"display": "Genitopatellar syndrome"
},
{
"code": "85202",
"display": "Keutel syndrome"
},
{
"code": "85203",
"display": "Acropectoral syndrome"
},
{
"code": "85212",
"display": "Fetal Gaucher disease"
},
{
"code": "85273",
"display": "X-linked intellectual disability, Abidi type"
},
{
"code": "85274",
"display": "Syndromic X-linked intellectual disability 7"
},
{
"code": "85275",
"display": "Microphthalmia-ankyloblepharon-intellectual disability syndrome"
},
{
"code": "85276",
"display": "X-linked intellectual disability, Armfield type"
},
{
"code": "85277",
"display": "X-linked intellectual disability, Cantagrel type"
},
{
"code": "85278",
"display": "Christianson syndrome"
},
{
"code": "85279",
"display": "KDM5C-related syndromic X-linked intellectual disability"
},
{
"code": "85280",
"display": "X-linked intellectual disability-cubitus valgus-dysmorphism syndrome"
},
{
"code": "85282",
"display": "MEHMO syndrome"
},
{
"code": "85283",
"display": "X-linked intellectual disability, Miles-Carpenter type"
},
{
"code": "85284",
"display": "BRESEK syndrome"
},
{
"code": "85285",
"display": "X-linked intellectual disability, Schimke type"
},
{
"code": "85286",
"display": "X-linked intellectual disability, Shashi type"
},
{
"code": "85287",
"display": "X-linked intellectual disability, Siderius type"
},
{
"code": "85288",
"display": "X-linked intellectual disability, Stocco Dos Santos type"
},
{
"code": "85290",
"display": "X-linked intellectual disability, Wilson type"
},
{
"code": "85292",
"display": "X-linked spinocerebellar ataxia type 4"
},
{
"code": "85293",
"display": "X-linked intellectual disability, Cabezas type"
},
{
"code": "85294",
"display": "X-linked epilepsy-learning disabilities-behavior disorders syndrome"
},
{
"code": "85295",
"display": "HSD10 disease, atypical type"
},
{
"code": "85297",
"display": "X-linked spinocerebellar ataxia type 3"
},
{
"code": "85317",
"display": "X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome"
},
{
"code": "85319",
"display": "X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome"
},
{
"code": "85320",
"display": "X-linked intellectual disability-macrocephaly-macroorchidism syndrome"
},
{
"code": "85321",
"display": "Deafness-intellectual disability syndrome, Martin-Probst type"
},
{
"code": "85322",
"display": "X-linked intellectual disability, Pai type"
},
{
"code": "85323",
"display": "X-linked intellectual disability, Seemanova type"
},
{
"code": "85324",
"display": "X-linked intellectual disability, Shrimpton type"
},
{
"code": "85325",
"display": "X-linked intellectual disability, Stevenson type"
},
{
"code": "85326",
"display": "X-linked intellectual disability, Stoll type"
},
{
"code": "85327",
"display": "X-linked intellectual disability-acromegaly-hyperactivity syndrome"
},
{
"code": "85329",
"display": "X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome"
},
{
"code": "85332",
"display": "X-linked intellectual disability-retinitis pigmentosa syndrome"
},
{
"code": "85334",
"display": "X-linked neurodegenerative syndrome, Bertini type"
},
{
"code": "85335",
"display": "Fried syndrome"
},
{
"code": "85336",
"display": "X-linked neurodegenerative syndrome, Hamel type"
},
{
"code": "85338",
"display": "X-linked intellectual disability-ataxia-apraxia syndrome"
},
{
"code": "85408",
"display": "Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis"
},
{
"code": "85410",
"display": "Oligoarticular juvenile idiopathic arthritis"
},
{
"code": "85414",
"display": "Systemic-onset juvenile idiopathic arthritis"
},
{
"code": "85435",
"display": "Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis"
},
{
"code": "85436",
"display": "Psoriasis-related juvenile idiopathic arthritis"
},
{
"code": "85438",
"display": "Enthesitis-related juvenile idiopathic arthritis"
},
{
"code": "85442",
"display": "Short stature-pituitary and cerebellar defects-small sella turcica syndrome"
},
{
"code": "85443",
"display": "AL amyloidosis"
},
{
"code": "85445",
"display": "AA amyloidosis"
},
{
"code": "85446",
"display": "Wild type ABeta2M amyloidosis"
},
{
"code": "85447",
"display": "ATTRV30M amyloidosis"
},
{
"code": "85448",
"display": "AGel amyloidosis"
},
{
"code": "85450",
"display": "Hereditary amyloidosis with primary renal involvement"
},
{
"code": "85451",
"display": "ATTRV122I amyloidosis"
},
{
"code": "85453",
"display": "X-linked reticulate pigmentary disorder"
},
{
"code": "85458",
"display": "Cerebral Amyloid Angiopathy"
},
{
"code": "86309",
"display": "DPAGT1-CDG"
},
{
"code": "86788",
"display": "X-linked severe congenital neutropenia"
},
{
"code": "86789",
"display": "Isolated patella aplasia/hypoplasia"
},
{
"code": "86797",
"display": "Atypical lichen myxedematosus"
},
{
"code": "86812",
"display": "POMT1-related limb-girdle muscular dystrophy R11"
},
{
"code": "86813",
"display": "Helicoid peripapillary chorioretinal degeneration"
},
{
"code": "86814",
"display": "Benign adult familial myoclonic epilepsy"
},
{
"code": "86815",
"display": "Aplasia of lacrimal and salivary glands"
},
{
"code": "86816",
"display": "Congenital analbuminemia"
},
{
"code": "86817",
"display": "Hemolytic anemia due to adenylate kinase deficiency"
},
{
"code": "86818",
"display": "Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome"
},
{
"code": "86819",
"display": "Atrichia with papular lesions"
},
{
"code": "86820",
"display": "Familial avascular necrosis of femoral head"
},
{
"code": "86821",
"display": "Lissencephaly type 3-familial fetal akinesia sequence syndrome"
},
{
"code": "86822",
"display": "Lissencephaly type 3-metacarpal bone dysplasia syndrome"
},
{
"code": "86829",
"display": "Chronic neutrophilic leukemia"
},
{
"code": "86830",
"display": "Chronic myeloproliferative disease, unclassifiable"
},
{
"code": "86834",
"display": "Juvenile myelomonocytic leukemia"
},
{
"code": "86839",
"display": "Myelodysplastic neoplasm with increased blasts"
},
{
"code": "86841",
"display": "Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality"
},
{
"code": "86843",
"display": "Acute panmyelosis with myelofibrosis"
},
{
"code": "86845",
"display": "Acute myeloid leukaemia with myelodysplasia-related features"
},
{
"code": "86849",
"display": "Acute basophilic leukemia"
},
{
"code": "86850",
"display": "Myeloid sarcoma"
},
{
"code": "86852",
"display": "B-cell prolymphocytic leukemia"
},
{
"code": "86854",
"display": "Splenic marginal zone lymphoma"
},
{
"code": "86855",
"display": "Plasmacytoma"
},
{
"code": "86861",
"display": "Non-amyloid monoclonal immunoglobulin deposition disease"
},
{
"code": "86864",
"display": "Heavy chain disease"
},
{
"code": "86867",
"display": "Nodal marginal zone B-cell lymphoma"
},
{
"code": "86869",
"display": "Lymphomatoid granulomatosis"
},
{
"code": "86870",
"display": "Blastic plasmacytoid dendritic cell neoplasm"
},
{
"code": "86871",
"display": "T-cell prolymphocytic leukemia"
},
{
"code": "86872",
"display": "T-cell large granular lymphocyte leukemia"
},
{
"code": "86873",
"display": "Aggressive NK-cell leukemia"
},
{
"code": "86875",
"display": "Adult T-cell leukemia/lymphoma"
},
{
"code": "86879",
"display": "Extranodal nasal NK/T cell lymphoma"
},
{
"code": "86880",
"display": "Enteropathy-associated T-cell lymphoma"
},
{
"code": "86882",
"display": "Hepatosplenic T-cell lymphoma"
},
{
"code": "86884",
"display": "Subcutaneous panniculitis-like T-cell lymphoma"
},
{
"code": "86885",
"display": "Primary cutaneous peripheral T-cell lymphoma not otherwise specified"
},
{
"code": "86886",
"display": "Angioimmunoblastic T-cell lymphoma"
},
{
"code": "86893",
"display": "Nodular lymphocyte predominant Hodgkin lymphoma"
},
{
"code": "86896",
"display": "Histiocytic sarcoma"
},
{
"code": "86897",
"display": "Langerhans cell sarcoma"
},
{
"code": "86900",
"display": "Interdigitating dendritic cell sarcoma"
},
{
"code": "86902",
"display": "Follicular dendritic cell sarcoma"
},
{
"code": "86903",
"display": "Dendritic cell sarcoma not otherwise specified"
},
{
"code": "86904",
"display": "Methotrexate-associated lymphoproliferative disorders"
},
{
"code": "86906",
"display": "Hypothalamic hamartomas with gelastic seizures"
},
{
"code": "86908",
"display": "Idiopathic hemiconvulsion-hemiplegia syndrome"
},
{
"code": "86909",
"display": "Myoclonic epilepsy of infancy"
},
{
"code": "86911",
"display": "Epilepsy with myoclonic absences"
},
{
"code": "86913",
"display": "Myoclonic epilepsy in non-progressive encephalopathies"
},
{
"code": "86914",
"display": "Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome"
},
{
"code": "86915",
"display": "Lymphedema-atrial septal defects-facial changes syndrome"
},
{
"code": "86918",
"display": "Diffuse palmoplantar keratoderma-acrocyanosis syndrome"
},
{
"code": "86919",
"display": "Keratosis palmaris et plantaris-clinodactyly syndrome"
},
{
"code": "86920",
"display": "Dermatopathia pigmentosa reticularis"
},
{
"code": "86923",
"display": "Hereditary palmoplantar keratoderma, Gamborg-Nielsen type"
},
{
"code": "87503",
"display": "Mal de Meleda"
},
{
"code": "87876",
"display": "Sialidosis type 2"
},
{
"code": "87884",
"display": "Non-syndromic genetic deafness"
},
{
"code": "88616",
"display": "Autosomal recessive non-syndromic intellectual disability"
},
{
"code": "88618",
"display": "S-adenosylhomocysteine hydrolase deficiency"
},
{
"code": "88619",
"display": "Familial acute necrotizing encephalopathy"
},
{
"code": "88620",
"display": "Isolated congenital anosmia"
},
{
"code": "88621",
"display": "Ichthyosis-prematurity syndrome"
},
{
"code": "88628",
"display": "Posterior column ataxia-retinitis pigmentosa syndrome"
},
{
"code": "88629",
"display": "Tritanopia"
},
{
"code": "88630",
"display": "Terminal osseous dysplasia-pigmentary defects syndrome"
},
{
"code": "88633",
"display": "Superior limbic keratoconjunctivitis"
},
{
"code": "88635",
"display": "Vacuolar myopathy with sarcoplasmic reticulum protein aggregates"
},
{
"code": "88637",
"display": "Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome"
},
{
"code": "88639",
"display": "Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency"
},
{
"code": "88642",
"display": "Congenital insensitivity to pain-anosmia-neuropathic arthropathy"
},
{
"code": "88643",
"display": "Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome"
},
{
"code": "88644",
"display": "Autosomal recessive ataxia, Beauce type"
},
{
"code": "88659",
"display": "Autosomal dominant progressive nephropathy with hypertension"
},
{
"code": "88660",
"display": "Hypertension due to gain-of-function mutations in the mineralocorticoid receptor"
},
{
"code": "88661",
"display": "Amelogenesis imperfecta"
},
{
"code": "88917",
"display": "X-linked Alport syndrome"
},
{
"code": "88918",
"display": "Autosomal dominant Alport syndrome"
},
{
"code": "88919",
"display": "Autosomal recessive Alport syndrome"
},
{
"code": "88924",
"display": "Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis"
},
{
"code": "88938",
"display": "Pseudohypoaldosteronism type 2A"
},
{
"code": "88939",
"display": "Pseudohypoaldosteronism type 2B"
},
{
"code": "88940",
"display": "Pseudohypoaldosteronism type 2C"
},
{
"code": "88949",
"display": "MUC1-related autosomal dominant tubulointerstitial kidney disease"
},
{
"code": "88950",
"display": "UMOD-related autosomal dominant tubulointerstitial kidney disease"
},
{
"code": "89838",
"display": "Autosomal recessive generalized epidermolysis bullosa simplex"
},
{
"code": "89842",
"display": "Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form"
},
{
"code": "89843",
"display": "Dystrophic epidermolysis bullosa pruriginosa"
},
{
"code": "89844",
"display": "Lissencephaly syndrome, Norman-Roberts type"
},
{
"code": "89936",
"display": "X-linked hypophosphatemia"
},
{
"code": "89937",
"display": "Autosomal dominant hypophosphatemic rickets"
},
{
"code": "89938",
"display": "Bartter syndrome type 4"
},
{
"code": "90000",
"display": "Erythema elevatum diutinum"
},
{
"code": "90001",
"display": "X-linked cone dysfunction syndrome with myopia"
},
{
"code": "90002",
"display": "Undifferentiated connective tissue syndrome"
},
{
"code": "90003",
"display": "Inflammatory pseudotumor of the liver"
},
{
"code": "90020",
"display": "Parkinson-dementia complex of Guam"
},
{
"code": "90021",
"display": "Radiation myelitis"
},
{
"code": "90023",
"display": "Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency"
},
{
"code": "90024",
"display": "Deafness with labyrinthine aplasia, microtia, and microdontia"
},
{
"code": "90026",
"display": "Primary erythromelalgia"
},
{
"code": "90030",
"display": "Hemolytic anemia due to glutathione reductase deficiency"
},
{
"code": "90031",
"display": "Non-spherocytic hemolytic anemia due to hexokinase deficiency"
},
{
"code": "90033",
"display": "Autoimmune hemolytic anemia, warm type"
},
{
"code": "90035",
"display": "Paroxysmal cold hemoglobinuria"
},
{
"code": "90036",
"display": "Mixed-type autoimmune hemolytic anemia"
},
{
"code": "90037",
"display": "Drug-induced autoimmune hemolytic anemia"
},
{
"code": "90038",
"display": "Shiga toxin-associated hemolytic uremic syndrome"
},
{
"code": "90039",
"display": "Hemoglobin D disease"
},
{
"code": "90041",
"display": "Gaisböck syndrome"
},
{
"code": "90042",
"display": "Primary familial polycythemia"
},
{
"code": "90044",
"display": "Familial pseudohyperkalemia"
},
{
"code": "90045",
"display": "Hereditary folate malabsorption"
},
{
"code": "90050",
"display": "Retinopathy of prematurity"
},
{
"code": "90051",
"display": "Sepsis in premature infants"
},
{
"code": "90052",
"display": "Recurrent hepatitis C virus induced liver disease in liver transplant recipients"
},
{
"code": "90053",
"display": "Complications after hematopoietic stem cell transplantation"
},
{
"code": "90056",
"display": "Moderate and severe traumatic brain injury"
},
{
"code": "90058",
"display": "Spinal cord injury"
},
{
"code": "90059",
"display": "Sudden sensorineural hearing loss"
},
{
"code": "90060",
"display": "Diffuse alveolar hemorrhage"
},
{
"code": "90062",
"display": "Acute liver failure"
},
{
"code": "90064",
"display": "Acute peripheral arterial occlusion"
},
{
"code": "90065",
"display": "Acquired aneurysmal subarachnoid hemorrhage"
},
{
"code": "90066",
"display": "Pneumonia caused by Pseudomonas aeruginosa infection"
},
{
"code": "90068",
"display": "Cocaine intoxication"
},
{
"code": "90069",
"display": "Systemic monochloroacetate poisoning"
},
{
"code": "90073",
"display": "Hepatitis B reinfection following liver transplantation"
},
{
"code": "90076",
"display": "Partial deep dermal and full thickness burns"
},
{
"code": "90078",
"display": "Invasive infections due to vancomycin-resistant enterococci"
},
{
"code": "90080",
"display": "Scarring in glaucoma filtration surgical procedures"
},
{
"code": "90081",
"display": "AIDS wasting syndrome"
},
{
"code": "90103",
"display": "Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome"
},
{
"code": "90117",
"display": "Hereditary motor and sensory neuropathy, Okinawa type"
},
{
"code": "90118",
"display": "Severe early-onset axonal neuropathy due to MFN2 deficiency"
},
{
"code": "90119",
"display": "Hereditary motor and sensory neuropathy with acrodystrophy"
},
{
"code": "90120",
"display": "Hereditary motor and sensory neuropathy type 6"
},
{
"code": "90153",
"display": "Mandibuloacral dysplasia with type A lipodystrophy"
},
{
"code": "90154",
"display": "Mandibuloacral dysplasia with type B lipodystrophy"
},
{
"code": "90156",
"display": "Centrifugal lipodystrophy"
},
{
"code": "90157",
"display": "Drug-induced localized lipodystrophy"
},
{
"code": "90158",
"display": "Idiopathic localized lipodystrophy"
},
{
"code": "90159",
"display": "Panniculitis-induced localized lipodystrophy"
},
{
"code": "90160",
"display": "Pressure-induced localized lipoatrophy"
},
{
"code": "90186",
"display": "Meige disease"
},
{
"code": "90280",
"display": "Chilblain lupus"
},
{
"code": "90281",
"display": "Discoid lupus erythematosus"
},
{
"code": "90282",
"display": "Hypertrophic or verrucous lupus erythematosus"
},
{
"code": "90283",
"display": "Lupus erythematosus tumidus"
},
{
"code": "90285",
"display": "Lupus erythematosus panniculitis"
},
{
"code": "90289",
"display": "Localized scleroderma"
},
{
"code": "90291",
"display": "Systemic sclerosis"
},
{
"code": "90301",
"display": "Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome"
},
{
"code": "90307",
"display": "Parkes Weber syndrome"
},
{
"code": "90308",
"display": "Klippel-Trénaunay syndrome"
},
{
"code": "90321",
"display": "Cockayne syndrome type 1"
},
{
"code": "90322",
"display": "Cockayne syndrome type 2"
},
{
"code": "90324",
"display": "Cockayne syndrome type 3"
},
{
"code": "90340",
"display": "Blau syndrome"
},
{
"code": "90342",
"display": "Xeroderma pigmentosum variant"
},
{
"code": "90348",
"display": "Autosomal dominant cutis laxa"
},
{
"code": "90349",
"display": "Autosomal recessive cutis laxa type 1"
},
{
"code": "90354",
"display": "Brittle cornea syndrome"
},
{
"code": "90362",
"display": "Primary intestinal lymphangiectasia"
},
{
"code": "90363",
"display": "Secondary intestinal lymphangiectasia"
},
{
"code": "90368",
"display": "Hypotrichosis simplex of the scalp"
},
{
"code": "90389",
"display": "Telangiectasia macularis eruptiva perstans"
},
{
"code": "90390",
"display": "Anonychia-onychodystrophy syndrome"
},
{
"code": "90393",
"display": "Nodular lichen myxedematosus"
},
{
"code": "90394",
"display": "Discrete papular lichen myxedematosus"
},
{
"code": "90395",
"display": "Papular mucinosis of infancy"
},
{
"code": "90396",
"display": "Acral persistent papular mucinosis"
},
{
"code": "90397",
"display": "Self-healing papular mucinosis"
},
{
"code": "90398",
"display": "Localized lichen myxedematosus with mixed features of different subtypes"
},
{
"code": "90399",
"display": "Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms"
},
{
"code": "90400",
"display": "Scleromyxedema without monoclonal gammopathy"
},
{
"code": "90625",
"display": "Rare X-linked non-syndromic sensorineural deafness type DFN"
},
{
"code": "90635",
"display": "Rare autosomal dominant non-syndromic sensorineural deafness type DFNA"
},
{
"code": "90636",
"display": "Rare autosomal recessive non-syndromic sensorineural deafness type DFNB"
},
{
"code": "90641",
"display": "Rare mitochondrial non-syndromic sensorineural deafness"
},
{
"code": "90646",
"display": "Deafness-hypogonadism syndrome"
},
{
"code": "90647",
"display": "Jervell and Lange-Nielsen syndrome"
},
{
"code": "90650",
"display": "Otopalatodigital syndrome type 1"
},
{
"code": "90652",
"display": "Otopalatodigital syndrome type 2"
},
{
"code": "90653",
"display": "Stickler syndrome type 1"
},
{
"code": "90654",
"display": "Stickler syndrome type 2"
},
{
"code": "90658",
"display": "Charcot-Marie-Tooth disease type 1E"
},
{
"code": "90673",
"display": "Hypothyroidism due to TSH receptor mutations"
},
{
"code": "90674",
"display": "Isolated thyroid-stimulating hormone deficiency"
},
{
"code": "90695",
"display": "Non-acquired panhypopituitarism"
},
{
"code": "90790",
"display": "Congenital lipoid adrenal hyperplasia due to STAR deficency"
},
{
"code": "90791",
"display": "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency"
},
{
"code": "90793",
"display": "Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency"
},
{
"code": "90794",
"display": "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency"
},
{
"code": "90795",
"display": "Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency"
},
{
"code": "90796",
"display": "46,XY difference of sex development due to isolated 17,20-lyase deficiency"
},
{
"code": "90797",
"display": "Partial androgen insensitivity syndrome"
},
{
"code": "91127",
"display": "Adenovirus infection in immunocompromised patients"
},
{
"code": "91130",
"display": "Cardiomyopathy-hypotonia-lactic acidosis syndrome"
},
{
"code": "91131",
"display": "DK1-CDG"
},
{
"code": "91132",
"display": "Ichthyosis-hypotrichosis syndrome"
},
{
"code": "91135",
"display": "Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency"
},
{
"code": "91136",
"display": "Acquired monoclonal Ig light chain-associated Fanconi syndrome"
},
{
"code": "91138",
"display": "Cryoglobulinemic vasculitis"
},
{
"code": "91139",
"display": "Simple cryoglobulinemia"
},
{
"code": "91140",
"display": "Unspecified juvenile idiopathic arthritis"
},
{
"code": "91347",
"display": "TSH-secreting pituitary adenoma"
},
{
"code": "91348",
"display": "Functioning gonadotropic adenoma"
},
{
"code": "91349",
"display": "Non-functioning pituitary adenoma"
},
{
"code": "91350",
"display": "Pituitary deficiency due to Rathke cleft cysts"
},
{
"code": "91351",
"display": "Pituitary dermoid and epidermoid cysts"
},
{
"code": "91352",
"display": "Germinoma of the central nervous system"
},
{
"code": "91354",
"display": "Pituitary deficiency due to empty sella turcica syndrome"
},
{
"code": "91355",
"display": "Sheehan syndrome"
},
{
"code": "91358",
"display": "Congenital esophageal diverticulum"
},
{
"code": "91359",
"display": "Chronic pneumonitis of infancy"
},
{
"code": "91364",
"display": "Non-specific interstitial pneumonia"
},
{
"code": "91387",
"display": "Familial thoracic aortic aneurysm and aortic dissection"
},
{
"code": "91396",
"display": "Isolated cryptophthalmia"
},
{
"code": "91397",
"display": "Isolated ankyloblepharon filiforme adnatum"
},
{
"code": "91411",
"display": "Congenital ptosis"
},
{
"code": "91412",
"display": "Marcus-Gunn syndrome"
},
{
"code": "91413",
"display": "Congenital Horner syndrome"
},
{
"code": "91414",
"display": "Pilomatrixoma"
},
{
"code": "91416",
"display": "Isolated congenital alacrima"
},
{
"code": "91481",
"display": "Ring dermoid of cornea"
},
{
"code": "91483",
"display": "Rieger anomaly"
},
{
"code": "91489",
"display": "Isolated congenital megalocornea"
},
{
"code": "91490",
"display": "Isolated congenital sclerocornea"
},
{
"code": "91491",
"display": "Congenital ectropion uveae"
},
{
"code": "91492",
"display": "Early onset non-syndromic cataract"
},
{
"code": "91494",
"display": "Macular coloboma-cleft palate-hallux valgus syndrome"
},
{
"code": "91495",
"display": "Persistent hyperplastic primary vitreous"
},
{
"code": "91496",
"display": "Snowflake vitreoretinal degeneration"
},
{
"code": "91498",
"display": "Familial congenital palsy of trochlear nerve"
},
{
"code": "91500",
"display": "Tubulointerstitial nephritis and uveitis syndrome"
},
{
"code": "91546",
"display": "Lyme disease"
},
{
"code": "91547",
"display": "Relapsing fever"
},
{
"code": "92050",
"display": "Congenital tufting enteropathy"
},
{
"code": "93100",
"display": "Renal agenesis, unilateral"
},
{
"code": "93101",
"display": "Renal hypoplasia"
},
{
"code": "93108",
"display": "Renal dysplasia"
},
{
"code": "93109",
"display": "Congenital megacalycosis"
},
{
"code": "93110",
"display": "Posterior urethral valve"
},
{
"code": "93111",
"display": "HNF1B-related autosomal dominant tubulointerstitial kidney disease"
},
{
"code": "93114",
"display": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type E"
},
{
"code": "93126",
"display": "Pauci-immune glomerulonephritis"
},
{
"code": "93160",
"display": "Hypocalcemic vitamin D-resistant rickets"
},
{
"code": "93164",
"display": "Transient pseudohypoaldosteronism"
},
{
"code": "93172",
"display": "Renal dysplasia, unilateral"
},
{
"code": "93173",
"display": "Renal dysplasia, bilateral"
},
{
"code": "93176",
"display": "Unilateral congenital megacalycosis"
},
{
"code": "93177",
"display": "Congenital bilateral megacalycosis"
},
{
"code": "93256",
"display": "Fragile X-associated tremor/ataxia syndrome"
},
{
"code": "93258",
"display": "Pfeiffer syndrome type 1"
},
{
"code": "93259",
"display": "Pfeiffer syndrome type 2"
},
{
"code": "93260",
"display": "Pfeiffer syndrome type 3"
},
{
"code": "93262",
"display": "Crouzon syndrome-acanthosis nigricans syndrome"
},
{
"code": "93267",
"display": "Cloverleaf skull-multiple congenital anomalies syndrome"
},
{
"code": "93268",
"display": "Short rib-polydactyly syndrome, Beemer-Langer type"
},
{
"code": "93269",
"display": "Short rib-polydactyly syndrome, Majewski type"
},
{
"code": "93270",
"display": "Short rib-polydactyly syndrome, Saldino-Noonan type"
},
{
"code": "93271",
"display": "Short rib-polydactyly syndrome, Verma-Naumoff type"
},
{
"code": "93274",
"display": "Thanatophoric dysplasia type 2"
},
{
"code": "93276",
"display": "Polyostotic fibrous dysplasia"
},
{
"code": "93277",
"display": "Monostotic fibrous dysplasia"
},
{
"code": "93279",
"display": "Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis"
},
{
"code": "93282",
"display": "Spondyloepimetaphyseal dysplasia, PAPSS2 type"
},
{
"code": "93283",
"display": "Spondyloepiphyseal dysplasia, Kimberley type"
},
{
"code": "93284",
"display": "Spondyloepiphyseal dysplasia tarda"
},
{
"code": "93292",
"display": "Adenoma of pancreas"
},
{
"code": "93293",
"display": "Okihiro syndrome"
},
{
"code": "93296",
"display": "Achondrogenesis type 2"
},
{
"code": "93297",
"display": "Hypochondrogenesis"
},
{
"code": "93298",
"display": "Achondrogenesis type 1B"
},
{
"code": "93299",
"display": "Achondrogenesis type 1A"
},
{
"code": "93302",
"display": "Brachyolmia, Maroteaux type"
},
{
"code": "93304",
"display": "Autosomal dominant brachyolmia"
},
{
"code": "93307",
"display": "Multiple epiphyseal dysplasia type 4"
},
{
"code": "93308",
"display": "Multiple epiphyseal dysplasia type 1"
},
{
"code": "93311",
"display": "Multiple epiphyseal dysplasia type 5"
},
{
"code": "93314",
"display": "Spondylometaphyseal dysplasia, Kozlowski type"
},
{
"code": "93315",
"display": "Spondylometaphyseal dysplasia, 'corner fracture' type"
},
{
"code": "93316",
"display": "Spondylometaphyseal dysplasia, Schmidt type"
},
{
"code": "93317",
"display": "Spondylometaphyseal dysplasia, Sedaghatian type"
},
{
"code": "93320",
"display": "Isolated ulnar hemimelia"
},
{
"code": "93321",
"display": "Isolated radial hemimelia"
},
{
"code": "93322",
"display": "Isolated tibial hemimelia"
},
{
"code": "93323",
"display": "Isolated fibular hemimelia"
},
{
"code": "93324",
"display": "Autosomal recessive Kenny-Caffey syndrome"
},
{
"code": "93325",
"display": "Autosomal dominant Kenny-Caffey syndrome"
},
{
"code": "93328",
"display": "Autosomal dominant omodysplasia"
},
{
"code": "93329",
"display": "Autosomal recessive omodysplasia"
},
{
"code": "93333",
"display": "Pelviscapular dysplasia"
},
{
"code": "93334",
"display": "Postaxial polydactyly type A"
},
{
"code": "93335",
"display": "Postaxial polydactyly type B"
},
{
"code": "93336",
"display": "Polydactyly of a triphalangeal thumb"
},
{
"code": "93337",
"display": "Polydactyly of an index finger"
},
{
"code": "93338",
"display": "Polysyndactyly"
},
{
"code": "93339",
"display": "Polydactyly of a biphalangeal thumb and/or hallux"
},
{
"code": "93346",
"display": "Spondyloepimetaphyseal dysplasia congenita, Strudwick type"
},
{
"code": "93347",
"display": "Anauxetic dysplasia"
},
{
"code": "93349",
"display": "X-linked spondyloepimetaphyseal dysplasia"
},
{
"code": "93351",
"display": "Spondyloepimetaphyseal dysplasia, Irapa type"
},
{
"code": "93352",
"display": "Spondyloepimetaphyseal dysplasia, Shohat type"
},
{
"code": "93356",
"display": "Spondyloepimetaphyseal dysplasia, Missouri type"
},
{
"code": "93357",
"display": "SPONASTRIME dysplasia"
},
{
"code": "93358",
"display": "Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome"
},
{
"code": "93360",
"display": "Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type"
},
{
"code": "93372",
"display": "Familial hypocalciuric hypercalcemia type 1"
},
{
"code": "93382",
"display": "Brachydactyly type A6"
},
{
"code": "93383",
"display": "Brachydactyly type B"
},
{
"code": "93384",
"display": "Brachydactyly type C"
},
{
"code": "93387",
"display": "Brachydactyly type E"
},
{
"code": "93388",
"display": "Brachydactyly type A1"
},
{
"code": "93394",
"display": "Brachydactyly type A4"
},
{
"code": "93396",
"display": "Brachydactyly type A2"
},
{
"code": "93397",
"display": "Brachydactyly type A7"
},
{
"code": "93398",
"display": "Genochondromatosis type 2"
},
{
"code": "93399",
"display": "Juvenile sialidosis type 2"
},
{
"code": "93400",
"display": "Congenital sialidosis type 2"
},
{
"code": "93402",
"display": "Syndactyly type 1"
},
{
"code": "93403",
"display": "Syndactyly type 2"
},
{
"code": "93404",
"display": "Syndactyly type 3"
},
{
"code": "93405",
"display": "Syndactyly type 4"
},
{
"code": "93406",
"display": "Syndactyly type 5"
},
{
"code": "93409",
"display": "Brachydactyly-syndactyly, Zhao type"
},
{
"code": "93473",
"display": "Hurler syndrome"
},
{
"code": "93474",
"display": "Scheie syndrome"
},
{
"code": "93476",
"display": "Hurler-Scheie syndrome"
},
{
"code": "93552",
"display": "Pediatric systemic lupus erythematosus"
},
{
"code": "93554",
"display": "Mixed cryoglobulinemia type II"
},
{
"code": "93555",
"display": "Mixed cryoglobulinemia type III"
},
{
"code": "93556",
"display": "Heavy chain deposition disease"
},
{
"code": "93557",
"display": "Light and heavy chain deposition disease"
},
{
"code": "93558",
"display": "Light chain deposition disease"
},
{
"code": "93560",
"display": "AApoAI amyloidosis"
},
{
"code": "93561",
"display": "ALys amyloidosis"
},
{
"code": "93562",
"display": "AFib amyloidosis"
},
{
"code": "93568",
"display": "Juvenile polymyositis"
},
{
"code": "93571",
"display": "Dense deposit disease"
},
{
"code": "93581",
"display": "Atypical hemolytic uremic syndrome with anti-factor H antibodies"
},
{
"code": "93583",
"display": "Congenital thrombotic thrombocytopenic purpura"
},
{
"code": "93585",
"display": "Immune-mediated thrombotic thrombocytopenic purpura"
},
{
"code": "93589",
"display": "Late-onset nephronophthisis"
},
{
"code": "93591",
"display": "Infantile nephronophthisis"
},
{
"code": "93592",
"display": "Juvenile nephronophthisis"
},
{
"code": "93598",
"display": "Primary hyperoxaluria type 1"
},
{
"code": "93599",
"display": "Primary hyperoxaluria type 2"
},
{
"code": "93600",
"display": "Primary hyperoxaluria type 3"
},
{
"code": "93601",
"display": "Xanthinuria type I"
},
{
"code": "93602",
"display": "Xanthinuria type II"
},
{
"code": "93605",
"display": "Bartter syndrome type 3"
},
{
"code": "93606",
"display": "Nephrogenic syndrome of inappropriate antidiuresis"
},
{
"code": "93607",
"display": "Autosomal recessive proximal renal tubular acidosis"
},
{
"code": "93608",
"display": "Autosomal dominant distal renal tubular acidosis"
},
{
"code": "93610",
"display": "Distal renal tubular acidosis with anemia"
},
{
"code": "93612",
"display": "Cystinuria type A"
},
{
"code": "93613",
"display": "Cystinuria type B"
},
{
"code": "93616",
"display": "Hemoglobin H disease"
},
{
"code": "93622",
"display": "Dent disease type 1"
},
{
"code": "93623",
"display": "Dent disease type 2"
},
{
"code": "93672",
"display": "Juvenile dermatomyositis"
},
{
"code": "93685",
"display": "Unicentric Castleman disease"
},
{
"code": "93921",
"display": "Full schwannomatosis"
},
{
"code": "93924",
"display": "Lobar holoprosencephaly"
},
{
"code": "93925",
"display": "Alobar holoprosencephaly"
},
{
"code": "93926",
"display": "Midline interhemispheric variant of holoprosencephaly"
},
{
"code": "93928",
"display": "Isolated epispadias"
},
{
"code": "93929",
"display": "Cloacal exstrophy"
},
{
"code": "93930",
"display": "Bladder exstrophy"
},
{
"code": "93932",
"display": "FG syndrome type 1"
},
{
"code": "93938",
"display": "Laryngotracheoesophageal cleft type 1"
},
{
"code": "93939",
"display": "Laryngotracheoesophageal cleft type 2"
},
{
"code": "93940",
"display": "Laryngotracheoesophageal cleft type 3"
},
{
"code": "93941",
"display": "Laryngotracheoesophageal cleft type 4"
},
{
"code": "93945",
"display": "X-linked intellectual disability, Porteous type"
},
{
"code": "93946",
"display": "Hamel cerebro-palato-cardiac syndrome"
},
{
"code": "93947",
"display": "X-linked intellectual disability, Golabi-Ito-Hall type"
},
{
"code": "93950",
"display": "X-linked intellectual disability, Sutherland-Haan type"
},
{
"code": "93952",
"display": "X-linked intellectual disability, Hedera type"
},
{
"code": "93953",
"display": "Familial thyroglossal duct cyst"
},
{
"code": "93958",
"display": "Oromandibular dystonia"
},
{
"code": "93964",
"display": "Blepharospasm-oromandibular dystonia syndrome"
},
{
"code": "93969",
"display": "Open spinal dysraphism with a myelomeningocele"
},
{
"code": "93976",
"display": "Anotia"
},
{
"code": "94056",
"display": "Isolated humero-ulnar synostosis"
},
{
"code": "94058",
"display": "Neovascular glaucoma"
},
{
"code": "94059",
"display": "Uremic pruritus"
},
{
"code": "94063",
"display": "12q14 microdeletion syndrome"
},
{
"code": "94064",
"display": "Deafness-infertility syndrome"
},
{
"code": "94065",
"display": "15q24 microdeletion syndrome"
},
{
"code": "94066",
"display": "Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia"
},
{
"code": "94068",
"display": "Spondyloepiphyseal dysplasia congenita"
},
{
"code": "94080",
"display": "Non-functioning paraganglioma"
},
{
"code": "94083",
"display": "Partington syndrome"
},
{
"code": "94086",
"display": "Blue diaper syndrome"
},
{
"code": "94087",
"display": "Cytophagic histiocytic panniculitis"
},
{
"code": "94088",
"display": "Hereditary renal hypouricemia"
},
{
"code": "94089",
"display": "Pseudohypoparathyroidism type 1B"
},
{
"code": "94090",
"display": "Pseudohypoparathyroidism type 2"
},
{
"code": "94091",
"display": "Mills syndrome"
},
{
"code": "94093",
"display": "Neuroleptic malignant syndrome"
},
{
"code": "94122",
"display": "Cerebellar ataxia, Cayman type"
},
{
"code": "94124",
"display": "Spinocerebellar ataxia with axonal neuropathy type 1"
},
{
"code": "94125",
"display": "Recessive mitochondrial ataxia syndrome"
},
{
"code": "94147",
"display": "Spinocerebellar ataxia type 7"
},
{
"code": "94150",
"display": "Anonychia congenita totalis"
},
{
"code": "95159",
"display": "Hepatoerythropoietic porphyria"
},
{
"code": "95232",
"display": "Lissencephaly due to LIS1 mutation"
},
{
"code": "95409",
"display": "Acute adrenal insufficiency"
},
{
"code": "95427",
"display": "Secondary short bowel syndrome"
},
{
"code": "95428",
"display": "COG8-CDG"
},
{
"code": "95429",
"display": "Angioma serpiginosum"
},
{
"code": "95430",
"display": "Congenital tracheomalacia"
},
{
"code": "95431",
"display": "Twin to twin transfusion syndrome"
},
{
"code": "95433",
"display": "Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome"
},
{
"code": "95434",
"display": "Autosomal recessive cerebellar ataxia-movement disorder syndrome"
},
{
"code": "95443",
"display": "Mesocardia"
},
{
"code": "95448",
"display": "Congenital aortic valve atresia"
},
{
"code": "95455",
"display": "Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum"
},
{
"code": "95457",
"display": "Tricuspid valve agenesis"
},
{
"code": "95459",
"display": "Congenital tricuspid stenosis"
},
{
"code": "95461",
"display": "Straddling or overriding tricuspid valve"
},
{
"code": "95462",
"display": "Accessory tricuspid valve tissue"
},
{
"code": "95465",
"display": "Cleft mitral valve"
},
{
"code": "95474",
"display": "Double-orifice mitral valve"
},
{
"code": "95486",
"display": "Premature closure of the arterial duct"
},
{
"code": "95491",
"display": "Congenital coronary artery aneurysm"
},
{
"code": "95494",
"display": "Combined pituitary hormone deficiencies, genetic forms"
},
{
"code": "95496",
"display": "Pituitary stalk interruption syndrome"
},
{
"code": "95507",
"display": "Congenital anomaly of hepatic vein"
},
{
"code": "95512",
"display": "Adenohypophysitis"
},
{
"code": "95513",
"display": "Panhypophysitis"
},
{
"code": "95613",
"display": "Pituitary apoplexy"
},
{
"code": "95619",
"display": "Post-traumatic pituitary deficiency"
},
{
"code": "95626",
"display": "Acquired arginine vasopressin deficiency"
},
{
"code": "95699",
"display": "Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency"
},
{
"code": "95700",
"display": "Familial adrenal hypoplasia with absent pituitary luteinizing hormone"
},
{
"code": "95702",
"display": "X-linked adrenal hypoplasia congenita"
},
{
"code": "95706",
"display": "Non-syndromic posterior hypospadias"
},
{
"code": "95707",
"display": "Idiopathic isolated micropenis"
},
{
"code": "95712",
"display": "Thyroid ectopia"
},
{
"code": "95713",
"display": "Athyreosis"
},
{
"code": "95715",
"display": "Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies"
},
{
"code": "95716",
"display": "Familial thyroid dyshormonogenesis"
},
{
"code": "95717",
"display": "Idiopathic congenital hypothyroidism"
},
{
"code": "95719",
"display": "Thyroid hemiagenesis"
},
{
"code": "95720",
"display": "Thyroid hypoplasia"
},
{
"code": "95854",
"display": "Levocardia"
},
{
"code": "96055",
"display": "Tetrasomy 21"
},
{
"code": "96059",
"display": "Mosaic trisomy 4"
},
{
"code": "96060",
"display": "Mosaic trisomy 5"
},
{
"code": "96061",
"display": "Mosaic trisomy 8"
},
{
"code": "96063",
"display": "Mosaic trisomy 10"
},
{
"code": "96068",
"display": "Mosaic trisomy 22"
},
{
"code": "96069",
"display": "Distal duplication 1p36"
},
{
"code": "96070",
"display": "Distal duplication 2p"
},
{
"code": "96071",
"display": "Distal duplication 3p"
},
{
"code": "96072",
"display": "4p16.3 microduplication syndrome"
},
{
"code": "96074",
"display": "Distal duplication 7p"
},
{
"code": "96076",
"display": "Beckwith-Wiedemann syndrome due to 11p15 microduplication"
},
{
"code": "96078",
"display": "16p13.3 microduplication syndrome"
},
{
"code": "96092",
"display": "8p inverted duplication/deletion syndrome"
},
{
"code": "96094",
"display": "Distal duplication 2q"
},
{
"code": "96095",
"display": "3q26 microduplication syndrome"
},
{
"code": "96096",
"display": "Distal duplication 4q"
},
{
"code": "96097",
"display": "Distal duplication 5q"
},
{
"code": "96098",
"display": "Distal duplication 6q"
},
{
"code": "96100",
"display": "Distal duplication 8q"
},
{
"code": "96101",
"display": "Distal duplication 9q"
},
{
"code": "96102",
"display": "Distal duplication 10q"
},
{
"code": "96103",
"display": "Distal duplication 11q"
},
{
"code": "96105",
"display": "Distal duplication 13q"
},
{
"code": "96106",
"display": "Distal duplication 16q"
},
{
"code": "96107",
"display": "Distal duplication 20q"
},
{
"code": "96109",
"display": "Distal duplication 22q"
},
{
"code": "96112",
"display": "Non-distal duplication 9q"
},
{
"code": "96121",
"display": "7q11.23 microduplication syndrome"
},
{
"code": "96123",
"display": "Monosomy 22"
},
{
"code": "96125",
"display": "Distal deletion 6p"
},
{
"code": "96126",
"display": "Distal deletion 7p"
},
{
"code": "96129",
"display": "Distal deletion 19p"
},
{
"code": "96145",
"display": "Distal deletion 4q"
},
{
"code": "96147",
"display": "Kleefstra syndrome due to 9q34 microdeletion"
},
{
"code": "96148",
"display": "Distal deletion 10q"
},
{
"code": "96149",
"display": "Distal deletion 12q"
},
{
"code": "96150",
"display": "Distal deletion 14q"
},
{
"code": "96160",
"display": "Non-distal deletion 12q"
},
{
"code": "96167",
"display": "Recombinant 8 syndrome"
},
{
"code": "96168",
"display": "Monosomy 13q34"
},
{
"code": "96169",
"display": "Koolen-De Vries syndrome"
},
{
"code": "96170",
"display": "Emanuel syndrome"
},
{
"code": "96171",
"display": "Ring chromosome 2 syndrome"
},
{
"code": "96172",
"display": "Ring chromosome 3 syndrome"
},
{
"code": "96173",
"display": "Ring chromosome 9 syndrome"
},
{
"code": "96175",
"display": "Ring chromosome 11 syndrome"
},
{
"code": "96176",
"display": "Ring chromosome 13 syndrome"
},
{
"code": "96177",
"display": "Ring chromosome 15 syndrome"
},
{
"code": "96178",
"display": "Ring chromosome 16 syndrome"
},
{
"code": "96179",
"display": "Maternal uniparental disomy of chromosome 2"
},
{
"code": "96180",
"display": "Maternal uniparental disomy of chromosome 4"
},
{
"code": "96181",
"display": "Maternal uniparental disomy of chromosome 6"
},
{
"code": "96182",
"display": "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7"
},
{
"code": "96183",
"display": "Maternal uniparental disomy of chromosome 9"
},
{
"code": "96184",
"display": "Temple syndrome due to maternal uniparental disomy of chromosome 14"
},
{
"code": "96185",
"display": "Maternal uniparental disomy of chromosome 16"
},
{
"code": "96186",
"display": "Maternal uniparental disomy of chromosome 20"
},
{
"code": "96187",
"display": "Maternal uniparental disomy of chromosome 21"
},
{
"code": "96188",
"display": "Maternal uniparental disomy of chromosome 22"
},
{
"code": "96190",
"display": "Paternal uniparental disomy of chromosome 5"
},
{
"code": "96191",
"display": "Paternal uniparental disomy of chromosome 6"
},
{
"code": "96192",
"display": "Paternal uniparental disomy of chromosome 7"
},
{
"code": "96193",
"display": "Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11"
},
{
"code": "96194",
"display": "Paternal uniparental disomy of chromosome 20"
},
{
"code": "96195",
"display": "Paternal uniparental disomy of chromosome 21"
},
{
"code": "96201",
"display": "X small rings"
},
{
"code": "96253",
"display": "Cushing disease"
},
{
"code": "96263",
"display": "48,XXXY syndrome"
},
{
"code": "96264",
"display": "49,XXXXY syndrome"
},
{
"code": "96265",
"display": "Leydig cell hypoplasia due to complete LH resistance"
},
{
"code": "96266",
"display": "Leydig cell hypoplasia due to partial LH resistance"
},
{
"code": "96269",
"display": "Isolated partial vaginal agenesis"
},
{
"code": "96334",
"display": "Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14"
},
{
"code": "97214",
"display": "Eisenmenger syndrome"
},
{
"code": "97229",
"display": "Riboflavin transporter deficiency"
},
{
"code": "97230",
"display": "Solar urticaria"
},
{
"code": "97232",
"display": "Fingerprint body myopathy"
},
{
"code": "97234",
"display": "Glycogen storage disease due to phosphoglycerate mutase deficiency"
},
{
"code": "97238",
"display": "Rippling muscle disease"
},
{
"code": "97239",
"display": "Reducing body myopathy"
},
{
"code": "97240",
"display": "Zebra body myopathy"
},
{
"code": "97244",
"display": "Rigid spine syndrome"
},
{
"code": "97249",
"display": "Pontocerebellar hypoplasia type 3"
},
{
"code": "97252",
"display": "Mega-cisterna magna"
},
{
"code": "97261",
"display": "GRFoma"
},
{
"code": "97278",
"display": "PPoma"
},
{
"code": "97279",
"display": "Insulinoma"
},
{
"code": "97280",
"display": "Glucagonoma"
},
{
"code": "97282",
"display": "VIPoma"
},
{
"code": "97283",
"display": "Somatostatinoma"
},
{
"code": "97285",
"display": "Thyroid lymphoma"
},
{
"code": "97286",
"display": "Carney-Stratakis syndrome"
},
{
"code": "97287",
"display": "Bronchial neuroendocrine tumor"
},
{
"code": "97289",
"display": "Thymic neuroendocrine tumor"
},
{
"code": "97290",
"display": "Familial papillary thyroid carcinoma with renal papillary neoplasia"
},
{
"code": "97292",
"display": "Cardiogenic shock"
},
{
"code": "97297",
"display": "Bohring-Opitz syndrome"
},
{
"code": "97330",
"display": "Thoracic outlet syndrome"
},
{
"code": "97332",
"display": "Kienbock disease"
},
{
"code": "97335",
"display": "Osgood-Schlatter disease"
},
{
"code": "97336",
"display": "Panner disease"
},
{
"code": "97337",
"display": "Sinding-Larsen-Johansson disease"
},
{
"code": "97338",
"display": "Melanoma of soft tissue"
},
{
"code": "97339",
"display": "Dural sinus malformation"
},
{
"code": "97340",
"display": "Hunter-McAlpine syndrome"
},
{
"code": "97341",
"display": "Persistent placoid maculopathy"
},
{
"code": "97345",
"display": "ABri amyloidosis"
},
{
"code": "97346",
"display": "ADan amyloidosis"
},
{
"code": "97349",
"display": "Postencephalitic parkinsonism"
},
{
"code": "97352",
"display": "Pellagra"
},
{
"code": "97353",
"display": "Dementia pugilistica"
},
{
"code": "97355",
"display": "Caribbean parkinsonism"
},
{
"code": "97360",
"display": "Robinow syndrome"
},
{
"code": "97361",
"display": "Renal hypoplasia, unilateral"
},
{
"code": "97362",
"display": "Renal hypoplasia, bilateral"
},
{
"code": "97363",
"display": "Unilateral multicystic dysplastic kidney"
},
{
"code": "97364",
"display": "Bilateral multicystic dysplastic kidney"
},
{
"code": "97366",
"display": "Multiloculated renal cyst"
},
{
"code": "97367",
"display": "Renal tubular dysgenesis due to twin-twin transfusion"
},
{
"code": "97368",
"display": "Drug-related renal tubular dysgenesis"
},
{
"code": "97369",
"display": "Renal tubular dysgenesis of genetic origin"
},
{
"code": "97548",
"display": "Right sided atrial isomerism"
},
{
"code": "97560",
"display": "Primary membranous glomerulonephritis"
},
{
"code": "97563",
"display": "Pauci-immune glomerulonephritis with ANCA"
},
{
"code": "97564",
"display": "Pauci-immune glomerulonephritis without ANCA"
},
{
"code": "97566",
"display": "Non-amyloid fibrillary glomerulopathy"
},
{
"code": "97567",
"display": "Immunotactoid glomerulopathy"
},
{
"code": "97598",
"display": "Congenital renal artery stenosis"
},
{
"code": "97678",
"display": "Maternal uniparental disomy of chromosome 13"
},
{
"code": "97685",
"display": "17q11 microdeletion syndrome"
},
{
"code": "98267",
"display": "Genetic non-syndromic obesity"
},
{
"code": "98434",
"display": "Hereditary combined deficiency of vitamin K-dependent clotting factors"
},
{
"code": "98606",
"display": "Syndromic orbital border hypoplasia"
},
{
"code": "98619",
"display": "Rare isolated myopia"
},
{
"code": "98673",
"display": "Autosomal dominant optic atrophy, classic form"
},
{
"code": "98676",
"display": "Autosomal recessive isolated optic atrophy"
},
{
"code": "98686",
"display": "Congenital trochlear nerve palsy"
},
{
"code": "98754",
"display": "Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15"
},
{
"code": "98755",
"display": "Spinocerebellar ataxia type 1"
},
{
"code": "98756",
"display": "Spinocerebellar ataxia type 2"
},
{
"code": "98757",
"display": "Spinocerebellar ataxia type 3"
},
{
"code": "98758",
"display": "Spinocerebellar ataxia type 6"
},
{
"code": "98759",
"display": "Spinocerebellar ataxia type 17"
},
{
"code": "98760",
"display": "Spinocerebellar ataxia type 8"
},
{
"code": "98761",
"display": "Spinocerebellar ataxia type 10"
},
{
"code": "98762",
"display": "Spinocerebellar ataxia type 12"
},
{
"code": "98763",
"display": "Spinocerebellar ataxia type 14"
},
{
"code": "98764",
"display": "Spinocerebellar ataxia type 27"
},
{
"code": "98765",
"display": "Spinocerebellar ataxia type 4"
},
{
"code": "98766",
"display": "Spinocerebellar ataxia type 5"
},
{
"code": "98767",
"display": "Spinocerebellar ataxia type 11"
},
{
"code": "98768",
"display": "Spinocerebellar ataxia type 13"
},
{
"code": "98769",
"display": "Spinocerebellar ataxia type 15/16"
},
{
"code": "98771",
"display": "Spinocerebellar ataxia type 18"
},
{
"code": "98772",
"display": "Spinocerebellar ataxia type 19/22"
},
{
"code": "98773",
"display": "Spinocerebellar ataxia type 21"
},
{
"code": "98784",
"display": "Autosomal dominant nocturnal frontal lobe epilepsy"
},
{
"code": "98791",
"display": "Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16"
},
{
"code": "98793",
"display": "Prader-Willi syndrome due to paternal 15q11q13 deletion"
},
{
"code": "98794",
"display": "Angelman syndrome due to maternal 15q11q13 deletion"
},
{
"code": "98795",
"display": "Angelman syndrome due to paternal uniparental disomy of chromosome 15"
},
{
"code": "98797",
"display": "Isochromosomy Yp"
},
{
"code": "98798",
"display": "Isochromosomy Yq"
},
{
"code": "98805",
"display": "Primary dystonia, DYT4 type"
},
{
"code": "98806",
"display": "Primary dystonia, DYT6 type"
},
{
"code": "98807",
"display": "Primary dystonia, DYT13 type"
},
{
"code": "98808",
"display": "Autosomal dominant dopa-responsive dystonia"
},
{
"code": "98809",
"display": "Paroxysmal kinesigenic dyskinesia"
},
{
"code": "98810",
"display": "Paroxysmal non-kinesigenic dyskinesia"
},
{
"code": "98811",
"display": "Paroxysmal exertion-induced dyskinesia"
},
{
"code": "98813",
"display": "Hypohidrotic ectodermal dysplasia with immunodeficiency"
},
{
"code": "98815",
"display": "Benign childhood occipital epilepsy, Panayiotopoulos type"
},
{
"code": "98816",
"display": "Benign childhood occipital epilepsy, Gastaut type"
},
{
"code": "98818",
"display": "Landau-Kleffner syndrome"
},
{
"code": "98819",
"display": "Familial temporal lobe epilepsy"
},
{
"code": "98820",
"display": "Familial focal epilepsy with variable foci"
},
{
"code": "98823",
"display": "Chronic myelomonocytic leukemia"
},
{
"code": "98824",
"display": "Atypical chronic myeloid leukemia"
},
{
"code": "98825",
"display": "Unclassified myelodysplastic/myeloproliferative disease"
},
{
"code": "98826",
"display": "Myelodysplastic neoplasm with low blasts"
},
{
"code": "98827",
"display": "Unclassified myelodysplastic syndrome"
},
{
"code": "98829",
"display": "Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)"
},
{
"code": "98831",
"display": "Acute myeloid leukemia with 11q23 abnormalities"
},
{
"code": "98832",
"display": "Acute myeloid leukemia with minimal differentiation"
},
{
"code": "98833",
"display": "Acute myeloblastic leukemia without maturation"
},
{
"code": "98834",
"display": "Acute myeloblastic leukemia with maturation"
},
{
"code": "98835",
"display": "Acute undifferentiated leukemia"
},
{
"code": "98838",
"display": "Primary mediastinal large B-cell lymphoma"
},
{
"code": "98839",
"display": "Intravascular large B-cell lymphoma"
},
{
"code": "98841",
"display": "Anaplastic large cell lymphoma"
},
{
"code": "98842",
"display": "Lymphomatoid papulosis"
},
{
"code": "98843",
"display": "Classic Hodgkin lymphoma, nodular sclerosis type"
},
{
"code": "98844",
"display": "Classic Hodgkin lymphoma, mixed cellularity type"
},
{
"code": "98845",
"display": "Classic Hodgkin lymphoma, lymphocyte-rich type"
},
{
"code": "98846",
"display": "Classic Hodgkin lymphoma, lymphocyte-depleted type"
},
{
"code": "98848",
"display": "Indolent systemic mastocytosis"
},
{
"code": "98849",
"display": "Systemic mastocytosis with associated hematologic neoplasm"
},
{
"code": "98850",
"display": "Aggressive systemic mastocytosis"
},
{
"code": "98851",
"display": "Mast cell leukemia"
},
{
"code": "98852",
"display": "Desquamative interstitial pneumonia"
},
{
"code": "98853",
"display": "Autosomal dominant Emery-Dreifuss muscular dystrophy"
},
{
"code": "98855",
"display": "Autosomal recessive Emery-Dreifuss muscular dystrophy"
},
{
"code": "98856",
"display": "Charcot-Marie-Tooth disease type 2B1"
},
{
"code": "98863",
"display": "X-linked Emery-Dreifuss muscular dystrophy"
},
{
"code": "98868",
"display": "Southeast Asian ovalocytosis"
},
{
"code": "98869",
"display": "Congenital dyserythropoietic anemia type I"
},
{
"code": "98870",
"display": "Congenital dyserythropoietic anemia type III"
},
{
"code": "98871",
"display": "Transient erythroblastopenia of childhood"
},
{
"code": "98872",
"display": "Primary acquired pure red cell aplasia"
},
{
"code": "98873",
"display": "Congenital dyserythropoietic anemia type II"
},
{
"code": "98878",
"display": "Hemophilia A"
},
{
"code": "98879",
"display": "Hemophilia B"
},
{
"code": "98880",
"display": "Familial afibrinogenemia"
},
{
"code": "98881",
"display": "Familial dysfibrinogenemia"
},
{
"code": "98885",
"display": "Bleeding diathesis due to glycoprotein VI deficiency"
},
{
"code": "98886",
"display": "Bleeding diathesis due to integrin alpha2-beta1 deficiency"
},
{
"code": "98889",
"display": "Bilateral perisylvian polymicrogyria"
},
{
"code": "98890",
"display": "Early-onset X-linked optic atrophy"
},
{
"code": "98892",
"display": "Periventricular nodular heterotopia"
},
{
"code": "98893",
"display": "Congenital muscular dystrophy type 1B"
},
{
"code": "98895",
"display": "Becker muscular dystrophy"
},
{
"code": "98896",
"display": "Duchenne muscular dystrophy"
},
{
"code": "98897",
"display": "Oculopharyngodistal myopathy"
},
{
"code": "98902",
"display": "Amish nemaline myopathy"
},
{
"code": "98904",
"display": "Congenital myopathy with excess of thin filaments"
},
{
"code": "98905",
"display": "Congenital multicore myopathy with external ophthalmoplegia"
},
{
"code": "98907",
"display": "Neutral lipid storage disease with ichthyosis"
},
{
"code": "98908",
"display": "Neutral lipid storage disease with myopathy"
},
{
"code": "98909",
"display": "Desminopathy"
},
{
"code": "98911",
"display": "Distal myotilinopathy"
},
{
"code": "98912",
"display": "Late-onset distal myopathy, Markesbery-Griggs type"
},
{
"code": "98913",
"display": "Postsynaptic congenital myasthenic syndromes"
},
{
"code": "98914",
"display": "Presynaptic congenital myasthenic syndromes"
},
{
"code": "98915",
"display": "Synaptic congenital myasthenic syndromes"
},
{
"code": "98916",
"display": "Acute inflammatory demyelinating polyradiculoneuropathy"
},
{
"code": "98917",
"display": "Acute motor and sensory axonal neuropathy"
},
{
"code": "98918",
"display": "Acute motor axonal neuropathy"
},
{
"code": "98919",
"display": "Miller Fisher syndrome"
},
{
"code": "98920",
"display": "Spinal muscular atrophy with respiratory distress type 1"
},
{
"code": "98922",
"display": "Blake pouch cyst"
},
{
"code": "98933",
"display": "Multiple system atrophy, parkinsonian type"
},
{
"code": "98934",
"display": "Huntington disease-like 2"
},
{
"code": "98938",
"display": "Colobomatous microphthalmia"
},
{
"code": "98942",
"display": "Coloboma of choroid and retina"
},
{
"code": "98943",
"display": "Coloboma of eye lens"
},
{
"code": "98944",
"display": "Coloboma of iris"
},
{
"code": "98945",
"display": "Coloboma of macula"
},
{
"code": "98946",
"display": "Coloboma of eyelid"
},
{
"code": "98947",
"display": "Coloboma of optic disc"
},
{
"code": "98948",
"display": "Congenital symblepharon"
},
{
"code": "98949",
"display": "Complete cryptophthalmia"
},
{
"code": "98950",
"display": "Partial cryptophthalmia"
},
{
"code": "98951",
"display": "Inverse Marcus-Gunn phenomenon"
},
{
"code": "98954",
"display": "Meesmann corneal dystrophy"
},
{
"code": "98955",
"display": "Lisch epithelial corneal dystrophy"
},
{
"code": "98956",
"display": "Epithelial basement membrane dystrophy"
},
{
"code": "98957",
"display": "Gelatinous drop-like corneal dystrophy"
},
{
"code": "98958",
"display": "Climatic droplet keratopathy"
},
{
"code": "98959",
"display": "Subepithelial mucinous corneal dystrophy"
},
{
"code": "98960",
"display": "Thiel-Behnke corneal dystrophy"
},
{
"code": "98961",
"display": "Reis-Bücklers corneal dystrophy"
},
{
"code": "98962",
"display": "Granular corneal dystrophy type I"
},
{
"code": "98963",
"display": "Granular corneal dystrophy type II"
},
{
"code": "98964",
"display": "Lattice corneal dystrophy type I"
},
{
"code": "98967",
"display": "Schnyder corneal dystrophy"
},
{
"code": "98969",
"display": "Macular corneal dystrophy"
},
{
"code": "98970",
"display": "Fleck corneal dystrophy"
},
{
"code": "98971",
"display": "Posterior amorphous corneal dystrophy"
},
{
"code": "98972",
"display": "Central cloudy dystrophy of François"
},
{
"code": "98973",
"display": "Posterior polymorphous corneal dystrophy"
},
{
"code": "98974",
"display": "Fuchs endothelial corneal dystrophy"
},
{
"code": "98976",
"display": "Congenital glaucoma"
},
{
"code": "98977",
"display": "Juvenile glaucoma"
},
{
"code": "98978",
"display": "Axenfeld anomaly"
},
{
"code": "98979",
"display": "Chandler syndrome"
},
{
"code": "98980",
"display": "Cogan-Reese syndrome"
},
{
"code": "98981",
"display": "Essential iris atrophy"
},
{
"code": "98984",
"display": "Pulverulent cataract"
},
{
"code": "98985",
"display": "Early-onset sutural cataract"
},
{
"code": "98988",
"display": "Early-onset anterior polar cataract"
},
{
"code": "98989",
"display": "Cerulean cataract"
},
{
"code": "98990",
"display": "Coralliform cataract"
},
{
"code": "98991",
"display": "Early-onset nuclear cataract"
},
{
"code": "98992",
"display": "Early-onset partial cataract"
},
{
"code": "98993",
"display": "Early-onset posterior polar cataract"
},
{
"code": "98994",
"display": "Total early-onset cataract"
},
{
"code": "98995",
"display": "Early-onset zonular cataract"
},
{
"code": "99000",
"display": "Adult-onset foveomacular vitelliform dystrophy"
},
{
"code": "99001",
"display": "Butterfly-shaped pigment dystrophy"
},
{
"code": "99002",
"display": "Reticular dystrophy of the retinal pigment epithelium"
},
{
"code": "99003",
"display": "Multifocal pattern dystrophy simulating fundus flavimaculatus"
},
{
"code": "99004",
"display": "Fundus pulverulentus"
},
{
"code": "99013",
"display": "Spastic paraplegia type 7"
},
{
"code": "99014",
"display": "X-linked Charcot-Marie-Tooth disease type 5"
},
{
"code": "99015",
"display": "Spastic paraplegia type 2"
},
{
"code": "99027",
"display": "Adult-onset autosomal dominant leukodystrophy"
},
{
"code": "99042",
"display": "Congenitally uncorrected transposition of the great arteries with coarctation"
},
{
"code": "99043",
"display": "Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis"
},
{
"code": "99045",
"display": "Double outlet right ventricle with subpulmonary ventricular septal defect"
},
{
"code": "99046",
"display": "Double outlet right ventricle with non-committed subpulmonary ventricular septal defect"
},
{
"code": "99048",
"display": "Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome"
},
{
"code": "99049",
"display": "Pulmonary artery coming from patent ductus arteriosus"
},
{
"code": "99050",
"display": "Abnormal origin of right or left pulmonary artery from the aorta"
},
{
"code": "99051",
"display": "Discrete fixed membranous subaortic stenosis"
},
{
"code": "99052",
"display": "Discrete fibromuscular subaortic stenosis"
},
{
"code": "99053",
"display": "Tunnel subaortic stenosis"
},
{
"code": "99054",
"display": "Valvular pulmonary stenosis"
},
{
"code": "99055",
"display": "Congenital anomaly of the tricuspid valve chordae"
},
{
"code": "99056",
"display": "Parachute tricuspid valve"
},
{
"code": "99057",
"display": "Congenital mitral stenosis"
},
{
"code": "99058",
"display": "Hypoplasia of the mitral valve annulus"
},
{
"code": "99059",
"display": "Congenital supravalvular mitral ring"
},
{
"code": "99060",
"display": "Congenital unguarded mitral orifice"
},
{
"code": "99061",
"display": "Accessory mitral valve tissue"
},
{
"code": "99062",
"display": "Mitral valve agenesis"
},
{
"code": "99063",
"display": "Shone complex"
},
{
"code": "99064",
"display": "Straddling and/or overriding mitral valve"
},
{
"code": "99067",
"display": "Complete atrioventricular septal defect with ventricular hypoplasia"
},
{
"code": "99068",
"display": "Complete atrioventricular septal defect-tetralogy of Fallot"
},
{
"code": "99070",
"display": "Aorto-right ventricular tunnel"
},
{
"code": "99071",
"display": "Aorto-left ventricular tunnel"
},
{
"code": "99072",
"display": "Congenital patent ductus arteriosus aneurysm"
},
{
"code": "99075",
"display": "Encircling double aortic arch"
},
{
"code": "99076",
"display": "Persistent fifth aortic arch"
},
{
"code": "99077",
"display": "Kommerell diverticulum"
},
{
"code": "99078",
"display": "Neuhauser anomaly"
},
{
"code": "99079",
"display": "Cervical aortic arch"
},
{
"code": "99081",
"display": "Right aortic arch"
},
{
"code": "99082",
"display": "Dysphagia lusoria"
},
{
"code": "99083",
"display": "Pulmonary artery hypoplasia"
},
{
"code": "99084",
"display": "Peripheral pulmonary stenosis"
},
{
"code": "99087",
"display": "Coronary ostial stenosis or atresia"
},
{
"code": "99089",
"display": "Abnormal number of coronary ostia"
},
{
"code": "99090",
"display": "Malposition of a coronary ostium"
},
{
"code": "99092",
"display": "Interventricular septum aneurysm"
},
{
"code": "99094",
"display": "Laubry-Pezzi syndrome"
},
{
"code": "99095",
"display": "Congenital Gerbode defect"
},
{
"code": "99098",
"display": "Cor triatriatum dexter"
},
{
"code": "99099",
"display": "Cor triatriatum sinister"
},
{
"code": "99100",
"display": "Juxtaposition of the atrial appendages"
},
{
"code": "99101",
"display": "Ectasia of the right atrial appendage"
},
{
"code": "99102",
"display": "Ectasia of the left atrial appendage"
},
{
"code": "99103",
"display": "Atrial septal defect, ostium secundum type"
},
{
"code": "99104",
"display": "Atrial septal defect, coronary sinus type"
},
{
"code": "99105",
"display": "Atrial septal defect, sinus venosus type"
},
{
"code": "99106",
"display": "Atrial septal defect, ostium primum type"
},
{
"code": "99107",
"display": "Atrial septal aneurysm"
},
{
"code": "99109",
"display": "Persistent left superior vena cava connecting through coronary sinus to left-sided atrium"
},
{
"code": "99110",
"display": "Right superior vena cava connecting to left-sided atrium"
},
{
"code": "99111",
"display": "Persistent left superior vena cava connecting to the roof of left-sided atrium"
},
{
"code": "99112",
"display": "Absence of innominate vein"
},
{
"code": "99113",
"display": "Subaortic course of innominate vein"
},
{
"code": "99114",
"display": "Agenesis of the superior vena cava"
},
{
"code": "99117",
"display": "Coronary sinus stenosis"
},
{
"code": "99118",
"display": "Coronary sinus atresia"
},
{
"code": "99119",
"display": "Right inferior vena cava connecting to left-sided atrium"
},
{
"code": "99120",
"display": "Persistent eustachian valve"
},
{
"code": "99121",
"display": "Azygos continuation of the inferior vena cava"
},
{
"code": "99122",
"display": "Congenital stenosis of the inferior vena cava"
},
{
"code": "99123",
"display": "Inferior vena cava interruption without azygos continuation"
},
{
"code": "99124",
"display": "Congenital partial pulmonary venous return anomaly"
},
{
"code": "99125",
"display": "Congenital total pulmonary venous return anomaly"
},
{
"code": "99126",
"display": "Congenital pulmonary vein atresia"
},
{
"code": "99129",
"display": "Congenital complete agenesis of pericardium"
},
{
"code": "99130",
"display": "Congenital partial agenesis of pericardium"
},
{
"code": "99131",
"display": "Pleuro-pericardial cyst"
},
{
"code": "99135",
"display": "6-phosphogluconate dehydrogenase deficiency"
},
{
"code": "99138",
"display": "Hemolytic anemia due to erythrocyte adenosine deaminase overproduction"
},
{
"code": "99139",
"display": "Unstable hemoglobin disease"
},
{
"code": "99141",
"display": "Lymphedema-posterior choanal atresia syndrome"
},
{
"code": "99147",
"display": "Acquired von Willebrand syndrome"
},
{
"code": "99169",
"display": "Epiblepharon"
},
{
"code": "99170",
"display": "Tarsal kink syndrome"
},
{
"code": "99171",
"display": "Isolated congenital ectropion"
},
{
"code": "99172",
"display": "Euryblepharon"
},
{
"code": "99176",
"display": "Congenital eyelid retraction"
},
{
"code": "99177",
"display": "Isolated distichiasis"
},
{
"code": "99179",
"display": "Kandori fleck retina"
},
{
"code": "99226",
"display": "Monosomy X"
},
{
"code": "99228",
"display": "Mosaic monosomy X"
},
{
"code": "99324",
"display": "Paternal uniparental disomy of chromosome 13"
},
{
"code": "99329",
"display": "48,XYYY syndrome"
},
{
"code": "99330",
"display": "49,XYYYY syndrome"
},
{
"code": "99361",
"display": "Familial medullary thyroid carcinoma"
},
{
"code": "99413",
"display": "Turner syndrome due to structural X chromosome anomalies"
},
{
"code": "99429",
"display": "Complete androgen insensitivity syndrome"
},
{
"code": "99642",
"display": "Spondyloepimetaphyseal dysplasia, Handigodu type"
},
{
"code": "99646",
"display": "Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria"
},
{
"code": "99657",
"display": "Primary dystonia, DYT2 type"
},
{
"code": "99672",
"display": "Fried's tooth and nail syndrome"
},
{
"code": "99688",
"display": "Dermotrichic syndrome"
},
{
"code": "99701",
"display": "Mesial temporal lobe epilepsy with hippocampal sclerosis"
},
{
"code": "99704",
"display": "Early-onset obesity-hyperphagia-severe developmental delay syndrome"
},
{
"code": "99710",
"display": "Punctate acrokeratoderma freckle-like pigmentation"
},
{
"code": "99718",
"display": "Leber plus disease"
},
{
"code": "99725",
"display": "Pituitary gigantism"
},
{
"code": "99731",
"display": "Isolated sulfite oxidase deficiency"
},
{
"code": "99732",
"display": "Sulfite oxidase deficiency due to molybdenum cofactor deficiency"
},
{
"code": "99734",
"display": "Myotonia fluctuans"
},
{
"code": "99735",
"display": "Myotonia permanens"
},
{
"code": "99736",
"display": "Acetazolamide-responsive myotonia"
},
{
"code": "99741",
"display": "King-Denborough syndrome"
},
{
"code": "99742",
"display": "Amish lethal microcephaly"
},
{
"code": "99745",
"display": "Typhoid"
},
{
"code": "99748",
"display": "Pontiac fever"
},
{
"code": "99749",
"display": "Kostmann syndrome"
},
{
"code": "99750",
"display": "Atypical progressive supranuclear palsy syndrome"
},
{
"code": "99756",
"display": "Alveolar rhabdomyosarcoma"
},
{
"code": "99757",
"display": "Embryonal rhabdomyosarcoma"
},
{
"code": "99771",
"display": "Bifid uvula"
},
{
"code": "99772",
"display": "Cleft velum"
},
{
"code": "99776",
"display": "Mosaic trisomy 9"
},
{
"code": "99789",
"display": "Dentin dysplasia type I"
},
{
"code": "99791",
"display": "Dentin dysplasia type II"
},
{
"code": "99792",
"display": "Dentin dysplasia-sclerotic bones syndrome"
},
{
"code": "99796",
"display": "Subcortical band heterotopia"
},
{
"code": "99797",
"display": "Anodontia"
},
{
"code": "99798",
"display": "Oligodontia"
},
{
"code": "99802",
"display": "Hemimegalencephaly"
},
{
"code": "99803",
"display": "Haddad syndrome"
},
{
"code": "99806",
"display": "Oculootodental syndrome"
},
{
"code": "99807",
"display": "PEHO-like syndrome"
},
{
"code": "99810",
"display": "Familial porencephaly"
},
{
"code": "99811",
"display": "Neuronal intestinal pseudoobstruction"
},
{
"code": "99812",
"display": "LIG4 syndrome"
},
{
"code": "99818",
"display": "Turcot syndrome with polyposis"
},
{
"code": "99819",
"display": "Familial gestational hyperthyroidism"
},
{
"code": "99824",
"display": "Lassa fever"
},
{
"code": "99825",
"display": "Nipah virus disease"
},
{
"code": "99826",
"display": "Marburg hemorrhagic fever"
},
{
"code": "99827",
"display": "Crimean-Congo hemorrhagic fever"
},
{
"code": "99828",
"display": "Dengue fever"
},
{
"code": "99829",
"display": "Yellow fever"
},
{
"code": "99832",
"display": "Resistance to thyrotropin-releasing hormone syndrome"
},
{
"code": "99842",
"display": "Leukocyte adhesion deficiency type I"
},
{
"code": "99843",
"display": "Leukocyte adhesion deficiency type II"
},
{
"code": "99844",
"display": "Leukocyte adhesion deficiency type III"
},
{
"code": "99845",
"display": "Genetic recurrent myoglobinuria"
},
{
"code": "99846",
"display": "Autosomal dominant myoglobinuria"
},
{
"code": "99849",
"display": "Glycogen storage disease due to muscle beta-enolase deficiency"
},
{
"code": "99852",
"display": "Ravine syndrome"
},
{
"code": "99853",
"display": "Ovarioleukodystrophy"
},
{
"code": "99854",
"display": "Cree leukoencephalopathy"
},
{
"code": "99856",
"display": "Primary syringomyelia"
},
{
"code": "99857",
"display": "Secondary syringomyelia"
},
{
"code": "99858",
"display": "Idiopathic syringomyelia"
},
{
"code": "99860",
"display": "Precursor B-cell acute lymphoblastic leukemia"
},
{
"code": "99861",
"display": "Precursor T-cell acute lymphoblastic leukemia"
},
{
"code": "99865",
"display": "Spermatocytic seminoma"
},
{
"code": "99867",
"display": "Thymoma"
},
{
"code": "99868",
"display": "Thymic carcinoma"
},
{
"code": "99869",
"display": "Thymic neuroendocrine carcinoma"
},
{
"code": "99879",
"display": "Familial isolated hyperparathyroidism"
},
{
"code": "99880",
"display": "Hyperparathyroidism-jaw tumor syndrome"
},
{
"code": "99885",
"display": "Isolated permanent neonatal diabetes mellitus"
},
{
"code": "99886",
"display": "Transient neonatal diabetes mellitus"
},
{
"code": "99887",
"display": "Acute megakaryoblastic leukemia in children with Down syndrome"
},
{
"code": "99889",
"display": "Cushing syndrome due to ectopic ACTH secretion"
},
{
"code": "99898",
"display": "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency"
},
{
"code": "99901",
"display": "Acyl-CoA dehydrogenase 9 deficiency"
},
{
"code": "99903",
"display": "Spirillary rat-bite fever"
},
{
"code": "99905",
"display": "Streptobacillary rat-bite fever"
},
{
"code": "99906",
"display": "Farmer's lung disease"
},
{
"code": "99907",
"display": "House allergic alveolitis"
},
{
"code": "99908",
"display": "Pigeon-breeder lung disease"
},
{
"code": "99912",
"display": "Ovarian dysgerminoma"
},
{
"code": "99914",
"display": "Gynandroblastoma"
},
{
"code": "99915",
"display": "Malignant granulosa cell tumor of the ovary"
},
{
"code": "99916",
"display": "Malignant Sertoli-Leydig cell tumor of the ovary"
},
{
"code": "99917",
"display": "Theca steroid-producing cell malignant tumor of ovary, not further specified"
},
{
"code": "99918",
"display": "Streptococcal toxic-shock syndrome"
},
{
"code": "99919",
"display": "Staphylococcal toxic-shock syndrome"
},
{
"code": "99920",
"display": "Acute graft versus host disease"
},
{
"code": "99921",
"display": "Chronic graft versus host disease"
},
{
"code": "99922",
"display": "Ocular cicatricial pemphigoid"
},
{
"code": "99925",
"display": "Invasive mole"
},
{
"code": "99926",
"display": "Gestational choriocarcinoma"
},
{
"code": "99927",
"display": "Hydatidiform mole"
},
{
"code": "99928",
"display": "Placental site trophoblastic tumor"
},
{
"code": "99930",
"display": "Secondary pulmonary hemosiderosis"
},
{
"code": "99931",
"display": "Idiopathic pulmonary hemosiderosis"
},
{
"code": "99932",
"display": "Heiner syndrome"
},
{
"code": "99933",
"display": "Pleuropulmonary blastoma type 1"
},
{
"code": "99934",
"display": "Pleuropulmonary blastoma type 2"
},
{
"code": "99935",
"display": "Pleuropulmonary blastoma type 3"
},
{
"code": "99936",
"display": "Autosomal dominant Charcot-Marie-Tooth disease type 2B"
},
{
"code": "99937",
"display": "Autosomal dominant Charcot-Marie-Tooth disease type 2C"
},
{
"code": "99938",
"display": "Autosomal dominant Charcot-Marie-Tooth disease type 2D"
},
{
"code": "99939",
"display": "Autosomal dominant Charcot-Marie-Tooth disease type 2E"
},
{
"code": "99940",
"display": "Autosomal dominant Charcot-Marie-Tooth disease type 2F"
},
{
"code": "99941",
"display": "Autosomal dominant Charcot-Marie-Tooth disease type 2G"
},
{
"code": "99942",
"display": "Autosomal dominant Charcot-Marie-Tooth disease type 2I"
},
{
"code": "99943",
"display": "Autosomal dominant Charcot-Marie-Tooth disease type 2J"
},
{
"code": "99944",
"display": "Autosomal dominant Charcot-Marie-Tooth disease type 2K"
},
{
"code": "99945",
"display": "Autosomal dominant Charcot-Marie-Tooth disease type 2L"
},
{
"code": "99946",
"display": "Autosomal dominant Charcot-Marie-Tooth disease type 2A1"
},
{
"code": "99947",
"display": "Autosomal dominant Charcot-Marie-Tooth disease type 2A2"
},
{
"code": "99948",
"display": "Charcot-Marie-Tooth disease type 4A"
},
{
"code": "99949",
"display": "Charcot-Marie-Tooth disease type 4C"
},
{
"code": "99950",
"display": "Charcot-Marie-Tooth disease type 4D"
},
{
"code": "99951",
"display": "Charcot-Marie-Tooth disease type 4E"
},
{
"code": "99952",
"display": "Charcot-Marie-Tooth disease type 4F"
},
{
"code": "99953",
"display": "Charcot-Marie-Tooth disease type 4G"
},
{
"code": "99954",
"display": "Charcot-Marie-Tooth disease type 4H"
},
{
"code": "99955",
"display": "Charcot-Marie-Tooth disease type 4B1"
},
{
"code": "99956",
"display": "Charcot-Marie-Tooth disease type 4B2"
},
{
"code": "99960",
"display": "Benign recurrent intrahepatic cholestasis type 1"
},
{
"code": "99961",
"display": "Benign recurrent intrahepatic cholestasis type 2"
},
{
"code": "99965",
"display": "O'Sullivan-McLeod syndrome"
},
{
"code": "99966",
"display": "Atypical teratoid rhabdoid tumor"
},
{
"code": "99967",
"display": "Myxoid/round cell liposarcoma"
},
{
"code": "99969",
"display": "Pleomorphic liposarcoma"
},
{
"code": "99970",
"display": "Dedifferentiated liposarcoma"
},
{
"code": "99971",
"display": "Well-differentiated liposarcoma"
},
{
"code": "99976",
"display": "Adenocarcinoma of the esophagus"
},
{
"code": "99977",
"display": "Squamous cell carcinoma of the esophagus"
},
{
"code": "99978",
"display": "Klatskin tumor"
},
{
"code": "99981",
"display": "Apnea of prematurity"
},
{
"code": "99989",
"display": "Intermediate DEND syndrome"
},
{
"code": "99990",
"display": "Brill-Zinsser disease"
},
{
"code": "99991",
"display": "Relapsing epidemic typhus"
},
{
"code": "99994",
"display": "Complex regional pain syndrome type 2"
},
{
"code": "99995",
"display": "Complex regional pain syndrome type 1"
},
{
"code": "100000",
"display": "Reticular perineurioma"
},
{
"code": "100001",
"display": "Sclerosing perineurioma"
},
{
"code": "100002",
"display": "Extraneural perineurioma"
},
{
"code": "100003",
"display": "Intraneural perineurioma"
},
{
"code": "100006",
"display": "ABeta amyloidosis, Dutch type"
},
{
"code": "100008",
"display": "ACys amyloidosis"
},
{
"code": "100011",
"display": "Lissencephaly with cerebellar hypoplasia type A"
},
{
"code": "100012",
"display": "Lissencephaly with cerebellar hypoplasia type B"
},
{
"code": "100013",
"display": "Lissencephaly with cerebellar hypoplasia type C"
},
{
"code": "100014",
"display": "Lissencephaly with cerebellar hypoplasia type D"
},
{
"code": "100015",
"display": "Lissencephaly with cerebellar hypoplasia type E"
},
{
"code": "100016",
"display": "Lissencephaly with cerebellar hypoplasia type F"
},
{
"code": "100019",
"display": "Myelodysplastic neoplasm with increased blasts type 1"
},
{
"code": "100020",
"display": "Myelodysplastic neoplasm with increased blasts type 2"
},
{
"code": "100021",
"display": "Primary plasmacytoma of the bone"
},
{
"code": "100022",
"display": "Extramedullary soft tissue plasmacytoma"
},
{
"code": "100024",
"display": "Mu-heavy chain disease"
},
{
"code": "100025",
"display": "Alpha-heavy chain disease"
},
{
"code": "100026",
"display": "Gamma-heavy chain disease"
},
{
"code": "100031",
"display": "Hypoplastic amelogenesis imperfecta"
},
{
"code": "100032",
"display": "Hypocalcified amelogenesis imperfecta"
},
{
"code": "100033",
"display": "Hypomaturation amelogenesis imperfecta"
},
{
"code": "100034",
"display": "Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism"
},
{
"code": "100035",
"display": "Solitary necrotic nodule of the liver"
},
{
"code": "100043",
"display": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type A"
},
{
"code": "100044",
"display": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type B"
},
{
"code": "100045",
"display": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type C"
},
{
"code": "100046",
"display": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type D"
},
{
"code": "100047",
"display": "Esophageal duplication cyst"
},
{
"code": "100048",
"display": "Tubular duplication of the esophagus"
},
{
"code": "100050",
"display": "Hereditary angioedema type 1"
},
{
"code": "100051",
"display": "Hereditary angioedema type 2"
},
{
"code": "100054",
"display": "F12-related hereditary angioedema with normal C1Inh"
},
{
"code": "100055",
"display": "Acquired angioedema type 2"
},
{
"code": "100056",
"display": "Acquired angioedema type 1"
},
{
"code": "100057",
"display": "Renin-angiotensin-aldosterone system-blocker-induced angioedema"
},
{
"code": "100067",
"display": "Waterhouse-Friderichsen syndrome"
},
{
"code": "100069",
"display": "Semantic dementia"
},
{
"code": "100070",
"display": "Progressive non-fluent aphasia"
},
{
"code": "100071",
"display": "Mosaic trisomy 3"
},
{
"code": "100073",
"display": "Neurogenic thoracic outlet syndrome"
},
{
"code": "100075",
"display": "Neuroendocrine tumor of stomach"
},
{
"code": "100078",
"display": "Ileal neuroendocrine tumor"
},
{
"code": "100079",
"display": "Neuroendocrine neoplasm of appendix"
},
{
"code": "100080",
"display": "Neuroendocrine tumor of the colon"
},
{
"code": "100081",
"display": "Neuroendocrine tumor of the rectum"
},
{
"code": "100082",
"display": "Neuroendocrine tumor of anal canal"
},
{
"code": "100083",
"display": "Laryngeal neuroendocrine tumor"
},
{
"code": "100084",
"display": "Middle ear neuroendocrine tumor"
},
{
"code": "100085",
"display": "Primary hepatic neuroendocrine carcinoma"
},
{
"code": "100086",
"display": "Gallbladder neuroendocrine tumor"
},
{
"code": "100093",
"display": "Carcinoid syndrome"
},
{
"code": "100924",
"display": "Porphyria due to ALA dehydratase deficiency"
},
{
"code": "100973",
"display": "FRAXE intellectual disability"
},
{
"code": "100974",
"display": "FRAXF syndrome"
},
{
"code": "100976",
"display": "Bathing suit ichthyosis"
},
{
"code": "100978",
"display": "Cloverleaf skull-asphyxiating thoracic dysplasia syndrome"
},
{
"code": "100984",
"display": "Autosomal dominant spastic paraplegia type 3"
},
{
"code": "100985",
"display": "Autosomal dominant spastic paraplegia type 4"
},
{
"code": "100986",
"display": "Autosomal recessive spastic paraplegia type 5A"
},
{
"code": "100988",
"display": "Autosomal dominant spastic paraplegia type 6"
},
{
"code": "100989",
"display": "Autosomal dominant spastic paraplegia type 8"
},
{
"code": "100991",
"display": "Autosomal dominant spastic paraplegia type 10"
},
{
"code": "100993",
"display": "Autosomal dominant spastic paraplegia type 12"
},
{
"code": "100994",
"display": "Autosomal dominant spastic paraplegia type 13"
},
{
"code": "100995",
"display": "Autosomal recessive spastic paraplegia type 14"
},
{
"code": "100996",
"display": "Autosomal recessive spastic paraplegia type 15"
},
{
"code": "100997",
"display": "X-linked spastic paraplegia type 16"
},
{
"code": "100998",
"display": "Autosomal dominant spastic paraplegia type 17"
},
{
"code": "100999",
"display": "Autosomal dominant spastic paraplegia type 19"
},
{
"code": "101000",
"display": "Autosomal recessive spastic paraplegia type 20"
},
{
"code": "101001",
"display": "Autosomal recessive spastic paraplegia type 21"
},
{
"code": "101003",
"display": "Autosomal recessive spastic paraplegia type 23"
},
{
"code": "101004",
"display": "Autosomal recessive spastic paraplegia type 24"
},
{
"code": "101005",
"display": "Autosomal recessive spastic paraplegia type 25"
},
{
"code": "101006",
"display": "Autosomal recessive spastic paraplegia type 26"
},
{
"code": "101007",
"display": "Autosomal recessive spastic paraplegia type 27"
},
{
"code": "101008",
"display": "Autosomal recessive spastic paraplegia type 28"
},
{
"code": "101009",
"display": "Autosomal dominant spastic paraplegia type 29"
},
{
"code": "101010",
"display": "Autosomal spastic paraplegia type 30"
},
{
"code": "101011",
"display": "Autosomal dominant spastic paraplegia type 31"
},
{
"code": "101016",
"display": "Romano-Ward syndrome"
},
{
"code": "101023",
"display": "Cleft hard palate"
},
{
"code": "101028",
"display": "Transaldolase deficiency"
},
{
"code": "101029",
"display": "Sub-cortical nodular heterotopia"
},
{
"code": "101030",
"display": "Subependymal nodular heterotopia"
},
{
"code": "101039",
"display": "Female restricted epilepsy with intellectual disability"
},
{
"code": "101041",
"display": "Familial hypofibrinogenemia"
},
{
"code": "101043",
"display": "Congenital aortic valve dysplasia"
},
{
"code": "101046",
"display": "Autosomal dominant epilepsy with auditory features"
},
{
"code": "101049",
"display": "Familial hypocalciuric hypercalcemia type 2"
},
{
"code": "101050",
"display": "Familial hypocalciuric hypercalcemia type 3"
},
{
"code": "101063",
"display": "Situs inversus totalis"
},
{
"code": "101068",
"display": "Congenital stromal corneal dystrophy"
},
{
"code": "101070",
"display": "Bilateral frontoparietal polymicrogyria"
},
{
"code": "101071",
"display": "Unilateral hemispheric polymicrogyria"
},
{
"code": "101075",
"display": "X-linked Charcot-Marie-Tooth disease type 1"
},
{
"code": "101076",
"display": "X-linked Charcot-Marie-Tooth disease type 2"
},
{
"code": "101077",
"display": "X-linked Charcot-Marie-Tooth disease type 3"
},
{
"code": "101078",
"display": "X-linked Charcot-Marie-Tooth disease type 4"
},
{
"code": "101081",
"display": "Charcot-Marie-Tooth disease type 1A"
},
{
"code": "101082",
"display": "Charcot-Marie-Tooth disease type 1B"
},
{
"code": "101083",
"display": "Charcot-Marie-Tooth disease type 1C"
},
{
"code": "101084",
"display": "Charcot-Marie-Tooth disease type 1D"
},
{
"code": "101085",
"display": "Charcot-Marie-Tooth disease type 1F"
},
{
"code": "101088",
"display": "X-linked hyper-IgM syndrome"
},
{
"code": "101089",
"display": "Hyper-IgM syndrome type 2"
},
{
"code": "101090",
"display": "Hyper-IgM syndrome type 3"
},
{
"code": "101091",
"display": "Hyper-IgM syndrome type 4"
},
{
"code": "101092",
"display": "Hyper-IgM syndrome type 5"
},
{
"code": "101097",
"display": "Autosomal recessive Charcot-Marie-Tooth disease with hoarseness"
},
{
"code": "101101",
"display": "Charcot-Marie-Tooth disease type 2B2"
},
{
"code": "101102",
"display": "Charcot-Marie-Tooth disease type 2H"
},
{
"code": "101104",
"display": "Marin-Amat syndrome"
},
{
"code": "101108",
"display": "Spinocerebellar ataxia type 23"
},
{
"code": "101109",
"display": "Spinocerebellar ataxia type 28"
},
{
"code": "101110",
"display": "Spinocerebellar ataxia type 20"
},
{
"code": "101111",
"display": "Spinocerebellar ataxia type 25"
},
{
"code": "101112",
"display": "Spinocerebellar ataxia type 26"
},
{
"code": "101150",
"display": "Autosomal recessive dopa-responsive dystonia"
},
{
"code": "101206",
"display": "Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome"
},
{
"code": "101330",
"display": "Porphyria cutanea tarda"
},
{
"code": "101334",
"display": "African tick typhus"
},
{
"code": "101351",
"display": "Familial isolated congenital asplenia"
},
{
"code": "101685",
"display": "Rare non-syndromic intellectual disability"
},
{
"code": "101932",
"display": "Anomaly of the mitral subvalvular apparatus"
},
{
"code": "102379",
"display": "Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent"
},
{
"code": "102381",
"display": "Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor"
},
{
"code": "102724",
"display": "Acute myeloid leukemia with t(8;21)(q22;q22) translocation"
},
{
"code": "103907",
"display": "Chronic diarrhea due to glucoamylase deficiency"
},
{
"code": "103908",
"display": "Congenital sodium diarrhea"
},
{
"code": "103909",
"display": "Trehalase deficiency"
},
{
"code": "103910",
"display": "Congenital enterocyte heparan sulfate deficiency"
},
{
"code": "103918",
"display": "Tropical pancreatitis"
},
{
"code": "103920",
"display": "Undetermined colitis"
},
{
"code": "104075",
"display": "Adenocarcinoma of the small intestine"
},
{
"code": "104076",
"display": "Leiomyosarcoma of small intestine"
},
{
"code": "104077",
"display": "Myopathic intestinal pseudoobstruction"
},
{
"code": "104078",
"display": "Unclassified intestinal pseudoobstruction"
},
{
"code": "137577",
"display": "Neonatal hypoxic and ischemic brain injury"
},
{
"code": "137583",
"display": "Vulvar intraepithelial neoplasia"
},
{
"code": "137593",
"display": "Infectious epithelial keratitis"
},
{
"code": "137596",
"display": "Neurotrophic keratopathy"
},
{
"code": "137599",
"display": "Herpes simplex virus stromal keratitis"
},
{
"code": "137602",
"display": "Corneal endotheliitis"
},
{
"code": "137605",
"display": "Legius syndrome"
},
{
"code": "137608",
"display": "Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome"
},
{
"code": "137617",
"display": "Nephrogenic systemic fibrosis"
},
{
"code": "137622",
"display": "Intractable diarrhea-choanal atresia-eye anomalies syndrome"
},
{
"code": "137625",
"display": "Glycogen storage disease due to muscle and heart glycogen synthase deficiency"
},
{
"code": "137628",
"display": "Cardiac anomalies-heterotaxy syndrome"
},
{
"code": "137631",
"display": "Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome"
},
{
"code": "137634",
"display": "Overgrowth-macrocephaly-facial dysmorphism syndrome"
},
{
"code": "137639",
"display": "Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome"
},
{
"code": "137667",
"display": "Capillary malformation-arteriovenous malformation"
},
{
"code": "137672",
"display": "Pellucid marginal degeneration"
},
{
"code": "137675",
"display": "Histiocytoid cardiomyopathy"
},
{
"code": "137678",
"display": "Spondyloepiphyseal dysplasia with metatarsal shortening"
},
{
"code": "137681",
"display": "Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1"
},
{
"code": "137686",
"display": "Asherman syndrome"
},
{
"code": "137698",
"display": "Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk"
},
{
"code": "137754",
"display": "Aminoacylase 1 deficiency"
},
{
"code": "137776",
"display": "Lethal congenital contracture syndrome type 2"
},
{
"code": "137783",
"display": "Lethal congenital contracture syndrome type 3"
},
{
"code": "137810",
"display": "Nodular cutaneous amyloidosis"
},
{
"code": "137814",
"display": "Macular amyloidosis"
},
{
"code": "137817",
"display": "Arachnoiditis"
},
{
"code": "137820",
"display": "Extrapelvic endometriosis"
},
{
"code": "137831",
"display": "X-linked intellectual disability-cerebellar hypoplasia syndrome"
},
{
"code": "137834",
"display": "Frank-Ter Haar syndrome"
},
{
"code": "137839",
"display": "Lemierre syndrome"
},
{
"code": "137867",
"display": "Madras motor neuron disease"
},
{
"code": "137888",
"display": "Auriculocondylar syndrome"
},
{
"code": "137893",
"display": "Male infertility due to large-headed multiflagellar polyploid spermatozoa"
},
{
"code": "137898",
"display": "Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome"
},
{
"code": "137908",
"display": "Hypotonia with lactic acidemia and hyperammonemia"
},
{
"code": "137914",
"display": "Choanal atresia"
},
{
"code": "137917",
"display": "Choanal atresia, unilateral"
},
{
"code": "137920",
"display": "Choanal atresia, bilateral"
},
{
"code": "137926",
"display": "Primary laryngeal lymphangioma"
},
{
"code": "137929",
"display": "Neonatal brainstem dysfunction"
},
{
"code": "137932",
"display": "Congenital laryngeal palsy"
},
{
"code": "137935",
"display": "Airway infantile hemangioma"
},
{
"code": "139396",
"display": "X-linked cerebral adrenoleukodystrophy"
},
{
"code": "139399",
"display": "Adrenomyeloneuropathy"
},
{
"code": "139402",
"display": "Drug reaction with eosinophilia and systemic symptoms"
},
{
"code": "139406",
"display": "Encephalopathy due to prosaposin deficiency"
},
{
"code": "139411",
"display": "Carney triad"
},
{
"code": "139414",
"display": "Congenital panfollicular nevus"
},
{
"code": "139417",
"display": "Acute transverse myelitis"
},
{
"code": "139423",
"display": "Idiopathic acute transverse myelitis"
},
{
"code": "139426",
"display": "Perioral myoclonia with absences"
},
{
"code": "139431",
"display": "Epilepsy with eyelid myoclonia"
},
{
"code": "139436",
"display": "Multicentric reticulohistiocytosis"
},
{
"code": "139441",
"display": "Hypomyelination with atrophy of basal ganglia and cerebellum"
},
{
"code": "139444",
"display": "Leukoencephalopathy with bilateral anterior temporal lobe cysts"
},
{
"code": "139447",
"display": "Progressive cavitating leukoencephalopathy"
},
{
"code": "139450",
"display": "Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome"
},
{
"code": "139455",
"display": "Autosomal recessive bestrophinopathy"
},
{
"code": "139466",
"display": "SERKAL syndrome"
},
{
"code": "139471",
"display": "Microphthalmia with brain and digit anomalies"
},
{
"code": "139474",
"display": "17q11.2 microduplication syndrome"
},
{
"code": "139480",
"display": "Autosomal recessive spastic paraplegia type 39"
},
{
"code": "139485",
"display": "Autosomal recessive ataxia due to ubiquinone deficiency"
},
{
"code": "139507",
"display": "Dietary iron overload disease"
},
{
"code": "139512",
"display": "Neuropathy with hearing impairment"
},
{
"code": "139515",
"display": "Charcot-Marie-Tooth disease type 4J"
},
{
"code": "139518",
"display": "Distal hereditary motor neuropathy type 1"
},
{
"code": "139525",
"display": "Distal hereditary motor neuropathy type 2"
},
{
"code": "139536",
"display": "Distal hereditary motor neuropathy type 5"
},
{
"code": "139547",
"display": "Distal spinal muscular atrophy type 3"
},
{
"code": "139552",
"display": "Distal hereditary motor neuropathy, Jerash type"
},
{
"code": "139557",
"display": "X-linked distal spinal muscular atrophy type 3"
},
{
"code": "139564",
"display": "Hereditary sensory and autonomic neuropathy type 1B"
},
{
"code": "139573",
"display": "Hereditary sensory and autonomic neuropathy with deafness and global delay"
},
{
"code": "139578",
"display": "Mutilating hereditary sensory neuropathy with spastic paraplegia"
},
{
"code": "139583",
"display": "X-linked hereditary sensory and autonomic neuropathy with deafness"
},
{
"code": "139589",
"display": "Distal hereditary motor neuropathy type 7"
},
{
"code": "140286",
"display": "Secondary hypoparathyroidism due to impaired parathormon secretion"
},
{
"code": "140436",
"display": "Primary intraosseous venous malformation"
},
{
"code": "140481",
"display": "Autosomal dominant slowed nerve conduction velocity"
},
{
"code": "140896",
"display": "Severe acute respiratory syndrome"
},
{
"code": "140905",
"display": "Hyperlipidemia due to hepatic triacylglycerol lipase deficiency"
},
{
"code": "140908",
"display": "Brachydactyly type B2"
},
{
"code": "140917",
"display": "Stapes ankylosis with broad thumbs and toes"
},
{
"code": "140922",
"display": "Titin-related limb-girdle muscular dystrophy R10"
},
{
"code": "140927",
"display": "Benign familial neonatal-infantile seizures"
},
{
"code": "140933",
"display": "Linear atrophoderma of Moulin"
},
{
"code": "140936",
"display": "Lelis syndrome"
},
{
"code": "140941",
"display": "Short stature due to primary acid-labile subunit deficiency"
},
{
"code": "140944",
"display": "CLOVES syndrome"
},
{
"code": "140949",
"display": "Low-flow priapism"
},
{
"code": "140952",
"display": "Syndactyly-telecanthus-anogenital and renal malformations syndrome"
},
{
"code": "140957",
"display": "Autosomal dominant macrothrombocytopenia"
},
{
"code": "140963",
"display": "Bilateral microtia-deafness-cleft palate syndrome"
},
{
"code": "140966",
"display": "Palmoplantar keratoderma, Nagashima type"
},
{
"code": "140969",
"display": "Saldino-Mainzer syndrome"
},
{
"code": "140976",
"display": "RHYNS syndrome"
},
{
"code": "140989",
"display": "Primary angiitis of the central nervous system"
},
{
"code": "141000",
"display": "Orofaciodigital syndrome type 11"
},
{
"code": "141007",
"display": "Orofaciodigital syndrome type 9"
},
{
"code": "141013",
"display": "First branchial cleft anomaly"
},
{
"code": "141022",
"display": "Second branchial cleft anomaly"
},
{
"code": "141030",
"display": "Third branchial cleft anomaly"
},
{
"code": "141037",
"display": "Fourth branchial cleft anomaly"
},
{
"code": "141046",
"display": "Cervical dermoid cyst"
},
{
"code": "141051",
"display": "Facial dermoid cyst"
},
{
"code": "141061",
"display": "Commissural lip fistula"
},
{
"code": "141064",
"display": "Lower lip fistula"
},
{
"code": "141067",
"display": "Cervicofacial fibrochondroma"
},
{
"code": "141071",
"display": "Digestive duplication cyst of the tongue"
},
{
"code": "141074",
"display": "External auditory canal aplasia/hypoplasia"
},
{
"code": "141077",
"display": "Epignathus"
},
{
"code": "141083",
"display": "Nasolacrimal duct cyst"
},
{
"code": "141091",
"display": "Polyrrhinia"
},
{
"code": "141096",
"display": "Supernumerary nostril"
},
{
"code": "141099",
"display": "Proboscis lateralis"
},
{
"code": "141103",
"display": "Nasal dermoid cyst"
},
{
"code": "141107",
"display": "Nasopharyngeal teratoma"
},
{
"code": "141112",
"display": "Nasal glial heterotopia"
},
{
"code": "141115",
"display": "Nasal ganglioglioma"
},
{
"code": "141118",
"display": "Nasal encephalocele"
},
{
"code": "141121",
"display": "Congenital subglottic stenosis"
},
{
"code": "141124",
"display": "Congenital laryngeal cyst"
},
{
"code": "141127",
"display": "Congenital tracheal stenosis"
},
{
"code": "141132",
"display": "Oculo-auriculo-vertebral spectrum"
},
{
"code": "141145",
"display": "Hemifacial hyperplasia"
},
{
"code": "141148",
"display": "Hemifacial myohyperplasia"
},
{
"code": "141152",
"display": "Isolated congenital hypoglossia/aglossia"
},
{
"code": "141163",
"display": "Glossopalatine ankylosis"
},
{
"code": "141168",
"display": "Frontonasal arteriovenous malformation"
},
{
"code": "141171",
"display": "Maxillary arteriovenous malformation"
},
{
"code": "141174",
"display": "Mandibular arteriovenous malformation"
},
{
"code": "141179",
"display": "Non-involuting congenital hemangioma"
},
{
"code": "141184",
"display": "Rapidly involuting congenital hemangioma"
},
{
"code": "141194",
"display": "Cerebrofacial arteriovenous metameric syndrome type 1"
},
{
"code": "141199",
"display": "Cerebrofacial arteriovenous metameric syndrome type 3"
},
{
"code": "141209",
"display": "Diffuse lymphatic malformation"
},
{
"code": "141214",
"display": "Isolated congenital syngnathia"
},
{
"code": "141219",
"display": "Nasal dorsum fistula"
},
{
"code": "141239",
"display": "Median cleft of the upper lip and maxilla"
},
{
"code": "141242",
"display": "Paramedian nasal cleft"
},
{
"code": "141258",
"display": "Tessier number 4 facial cleft"
},
{
"code": "141261",
"display": "Tessier number 5 facial cleft"
},
{
"code": "141265",
"display": "Tessier number 6 facial cleft"
},
{
"code": "141276",
"display": "Tessier number 7 facial cleft"
},
{
"code": "141288",
"display": "Midline cervical cleft"
},
{
"code": "141291",
"display": "Cleft lip and alveolus"
},
{
"code": "141333",
"display": "Biemond syndrome type 2"
},
{
"code": "155838",
"display": "Pinnae fistula or cyst"
},
{
"code": "155878",
"display": "Submucosal cleft palate"
},
{
"code": "155884",
"display": "Coloboma of superior eyelid"
},
{
"code": "155889",
"display": "Coloboma of inferior eyelid"
},
{
"code": "156728",
"display": "Spondyloepimetaphyseal dysplasia, matrilin-3 type"
},
{
"code": "156731",
"display": "Dyssegmental dysplasia, Rolland-Desbuquois type"
},
{
"code": "157215",
"display": "Hereditary hypophosphatemic rickets with hypercalciuria"
},
{
"code": "157713",
"display": "Congenital or early infantile CACH syndrome"
},
{
"code": "157716",
"display": "Late infantile CACH syndrome"
},
{
"code": "157719",
"display": "Juvenile or adult CACH syndrome"
},
{
"code": "157769",
"display": "Situs ambiguus"
},
{
"code": "157791",
"display": "Epithelioid hemangioendothelioma"
},
{
"code": "157794",
"display": "Hereditary mixed polyposis syndrome"
},
{
"code": "157798",
"display": "Serrated polyposis syndrome"
},
{
"code": "157801",
"display": "Mesoaxial synostotic syndactyly with phalangeal reduction"
},
{
"code": "157808",
"display": "Isolated pseudoarthrosis of the limbs"
},
{
"code": "157820",
"display": "Cold-induced sweating syndrome"
},
{
"code": "157823",
"display": "Klüver-Bucy syndrome"
},
{
"code": "157826",
"display": "Congenital epulis"
},
{
"code": "157832",
"display": "Craniorhiny"
},
{
"code": "157835",
"display": "Paroxysmal hemicrania"
},
{
"code": "157846",
"display": "Neuroferritinopathy"
},
{
"code": "157850",
"display": "Pantothenate kinase-associated neurodegeneration"
},
{
"code": "157941",
"display": "Huntington disease-like 1"
},
{
"code": "157946",
"display": "Huntington disease-like 3"
},
{
"code": "157949",
"display": "Combined immunodeficiency with granulomatosis"
},
{
"code": "157954",
"display": "ANE syndrome"
},
{
"code": "157962",
"display": "Oculoauricular syndrome, Schorderet type"
},
{
"code": "157965",
"display": "SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome"
},
{
"code": "157973",
"display": "Congenital muscular dystrophy due to LMNA mutation"
},
{
"code": "157991",
"display": "Generalized eruptive histiocytosis"
},
{
"code": "157997",
"display": "Benign cephalic histiocytosis"
},
{
"code": "158000",
"display": "Juvenile xanthogranuloma"
},
{
"code": "158003",
"display": "Xanthoma disseminatum"
},
{
"code": "158008",
"display": "Papular xanthoma"
},
{
"code": "158011",
"display": "Necrobiotic xanthogranuloma"
},
{
"code": "158014",
"display": "Rosaï-Dorfman disease"
},
{
"code": "158019",
"display": "Indeterminate cell histiocytosis"
},
{
"code": "158022",
"display": "Progressive nodular histiocytosis"
},
{
"code": "158025",
"display": "Hereditary progressive mucinous histiocytosis"
},
{
"code": "158029",
"display": "Sea-blue histiocytosis"
},
{
"code": "158048",
"display": "Hemophagocytic syndrome associated with an infection"
},
{
"code": "158057",
"display": "Acquired hemophagocytic lymphohistiocytosis associated with malignant disease"
},
{
"code": "158061",
"display": "Macrophage activation syndrome"
},
{
"code": "158668",
"display": "Ectodermal dysplasia-skin fragility syndrome"
},
{
"code": "158673",
"display": "Localized dystrophic epidermolysis bullosa, acral form"
},
{
"code": "158676",
"display": "Localized dystrophic epidermolysis bullosa, nails only"
},
{
"code": "158681",
"display": "Epidermolysis bullosa simplex with circinate migratory erythema"
},
{
"code": "158684",
"display": "Epidermolysis bullosa simplex with pyloric atresia"
},
{
"code": "158687",
"display": "Lethal acantholytic erosive disorder"
},
{
"code": "158766",
"display": "Typical urticaria pigmentosa"
},
{
"code": "158769",
"display": "Plaque-form urticaria pigmentosa"
},
{
"code": "158772",
"display": "Nodular urticaria pigmentosa"
},
{
"code": "158775",
"display": "Smoldering systemic mastocytosis"
},
{
"code": "158778",
"display": "Isolated bone marrow mastocytosis"
},
{
"code": "160148",
"display": "Cap polyposis"
},
{
"code": "162516",
"display": "Isolated congenital nasal pyriform aperture stenosis"
},
{
"code": "162526",
"display": "Isolated congenital auditory ossicle malformation"
},
{
"code": "163525",
"display": "Subacute cutaneous lupus erythematosus"
},
{
"code": "163596",
"display": "Hb Bart's hydrops fetalis"
},
{
"code": "163634",
"display": "Maffucci syndrome"
},
{
"code": "163649",
"display": "Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome"
},
{
"code": "163654",
"display": "Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome"
},
{
"code": "163662",
"display": "Spondyloepiphyseal dysplasia, Reardon type"
},
{
"code": "163665",
"display": "Spondyloepiphyseal dysplasia tarda, Kohn type"
},
{
"code": "163668",
"display": "Spondyloepiphyseal dysplasia, MacDermot type"
},
{
"code": "163681",
"display": "CNTNAP2-related developmental and epileptic encephalopathy"
},
{
"code": "163684",
"display": "Leukoencephalopathy-dystonia-motor neuropathy syndrome"
},
{
"code": "163690",
"display": "Hypotonia-cystinuria syndrome"
},
{
"code": "163693",
"display": "2p21 microdeletion syndrome"
},
{
"code": "163696",
"display": "Action myoclonus-renal failure syndrome"
},
{
"code": "163699",
"display": "Alveolar soft tissue sarcoma"
},
{
"code": "163703",
"display": "Febrile infection-related epilepsy syndrome"
},
{
"code": "163708",
"display": "Cryptogenic late-onset epileptic spasms"
},
{
"code": "163717",
"display": "Benign familial mesial temporal lobe epilepsy"
},
{
"code": "163721",
"display": "Rolandic epilepsy-speech dyspraxia syndrome"
},
{
"code": "163727",
"display": "Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome"
},
{
"code": "163746",
"display": "Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease"
},
{
"code": "163921",
"display": "Posttransplant acute limbic encephalitis"
},
{
"code": "163927",
"display": "Pustulosis palmaris et plantaris"
},
{
"code": "163931",
"display": "Acrodermatitis continua of Hallopeau"
},
{
"code": "163934",
"display": "Atopic keratoconjunctivitis"
},
{
"code": "163937",
"display": "X-linked intellectual disability, Najm type"
},
{
"code": "163956",
"display": "X-linked intellectual disability, Nascimento type"
},
{
"code": "163961",
"display": "X-linked cerebral-cerebellar-coloboma syndrome"
},
{
"code": "163966",
"display": "X-linked dominant chondrodysplasia, Chassaing-Lacombe type"
},
{
"code": "163971",
"display": "X-linked intellectual disability, Cilliers type"
},
{
"code": "163976",
"display": "X-linked intellectual disability, Van Esch type"
},
{
"code": "163979",
"display": "X-linked intellectual disability-craniofacioskeletal syndrome"
},
{
"code": "163985",
"display": "Hyperekplexia-epilepsy syndrome"
},
{
"code": "164726",
"display": "Acute myeloid leukemia and myelodysplastic syndromes related to radiation"
},
{
"code": "164736",
"display": "Familial advanced sleep-phase syndrome"
},
{
"code": "165805",
"display": "Familial mesial temporal lobe epilepsy with febrile seizures"
},
{
"code": "165955",
"display": "Wound myiasis"
},
{
"code": "165958",
"display": "Cavitary myiasis"
},
{
"code": "165991",
"display": "Exercise-induced hyperinsulinism"
},
{
"code": "166002",
"display": "Multiple epiphyseal dysplasia due to collagen 9 anomaly"
},
{
"code": "166016",
"display": "Multiple epiphyseal dysplasia, Lowry type"
},
{
"code": "166024",
"display": "Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome"
},
{
"code": "166029",
"display": "Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome"
},
{
"code": "166032",
"display": "Multiple epiphyseal dysplasia-miniepiphyses syndrome"
},
{
"code": "166035",
"display": "Brachydactyly-short stature-retinitis pigmentosa syndrome"
},
{
"code": "166038",
"display": "Metaphyseal chondrodysplasia, Kaitila type"
},
{
"code": "166063",
"display": "Pontocerebellar hypoplasia type 4"
},
{
"code": "166073",
"display": "Pontocerebellar hypoplasia type 6"
},
{
"code": "166078",
"display": "Von Willebrand disease type 1"
},
{
"code": "166081",
"display": "Von Willebrand disease type 2"
},
{
"code": "166084",
"display": "Von Willebrand disease type 2A"
},
{
"code": "166087",
"display": "Von Willebrand disease type 2B"
},
{
"code": "166090",
"display": "Von Willebrand disease type 2M"
},
{
"code": "166093",
"display": "Von Willebrand disease type 2N"
},
{
"code": "166096",
"display": "Von Willebrand disease type 3"
},
{
"code": "166100",
"display": "Autosomal dominant otospondylomegaepiphyseal dysplasia"
},
{
"code": "166105",
"display": "FASTKD2-related infantile mitochondrial encephalomyopathy"
},
{
"code": "166108",
"display": "Intellectual disability, Birk-Barel type"
},
{
"code": "166113",
"display": "Bazex syndrome"
},
{
"code": "166119",
"display": "Isolated osteopoikilosis"
},
{
"code": "166260",
"display": "Dentinogenesis imperfecta type 2"
},
{
"code": "166265",
"display": "Dentinogenesis imperfecta type 3"
},
{
"code": "166272",
"display": "Odontochondrodysplasia"
},
{
"code": "166277",
"display": "Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia"
},
{
"code": "166282",
"display": "Familial sick sinus syndrome"
},
{
"code": "166286",
"display": "Porokeratotic eccrine ostial and dermal duct nevus"
},
{
"code": "166291",
"display": "Dirofilariasis"
},
{
"code": "166299",
"display": "Benign partial epilepsy of infancy with complex partial seizures"
},
{
"code": "166302",
"display": "Benign partial epilepsy with secondarily generalized seizures in infancy"
},
{
"code": "166305",
"display": "Benign infantile seizures associated with mild gastroenteritis"
},
{
"code": "166308",
"display": "Benign infantile focal epilepsy with midline spikes and waves during sleep"
},
{
"code": "166409",
"display": "Photosensitive epilepsy"
},
{
"code": "166412",
"display": "Hot water reflex epilepsy"
},
{
"code": "166415",
"display": "Audiogenic seizures"
},
{
"code": "166418",
"display": "Eating reflex epilepsy"
},
{
"code": "166421",
"display": "Orgasm-induced seizures"
},
{
"code": "166424",
"display": "Thinking seizures"
},
{
"code": "166427",
"display": "Startle epilepsy"
},
{
"code": "166430",
"display": "Micturation-induced seizures"
},
{
"code": "166433",
"display": "Reading seizures"
},
{
"code": "167635",
"display": "Scleromyxedema"
},
{
"code": "168443",
"display": "Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome"
},
{
"code": "168451",
"display": "Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome"
},
{
"code": "168454",
"display": "Spondyloepimetaphyseal dysplasia, Geneviève type"
},
{
"code": "168544",
"display": "Spondylometaphyseal dysplasia, Golden type"
},
{
"code": "168549",
"display": "Axial spondylometaphyseal dysplasia"
},
{
"code": "168552",
"display": "Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome"
},
{
"code": "168555",
"display": "Spondylometaphyseal dysplasia, A4 type"
},
{
"code": "168558",
"display": "46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency"
},
{
"code": "168563",
"display": "46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome"
},
{
"code": "168566",
"display": "Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3"
},
{
"code": "168569",
"display": "H syndrome"
},
{
"code": "168572",
"display": "Native American myopathy"
},
{
"code": "168577",
"display": "Hereditary cryohydrocytosis with reduced stomatin"
},
{
"code": "168583",
"display": "Hereditary North American Indian childhood cirrhosis"
},
{
"code": "168588",
"display": "Hyperandrogenism due to cortisone reductase deficiency"
},
{
"code": "168593",
"display": "Sudden infant death-dysgenesis of the testes syndrome"
},
{
"code": "168598",
"display": "Methionine adenosyltransferase I/III deficiency"
},
{
"code": "168601",
"display": "Congenital enteropathy due to enteropeptidase deficiency"
},
{
"code": "168606",
"display": "Seborrhea-like dermatitis with psoriasiform elements"
},
{
"code": "168612",
"display": "Congenital deficiency in alpha-fetoprotein"
},
{
"code": "168615",
"display": "Hereditary persistence of alpha-fetoprotein"
},
{
"code": "168621",
"display": "Dysplasia of head of femur, Meyer type"
},
{
"code": "168624",
"display": "Familial scaphocephaly syndrome, McGillivray type"
},
{
"code": "168629",
"display": "Autosomal thrombocytopenia with normal platelets"
},
{
"code": "168632",
"display": "Generalized basaloid follicular hamartoma syndrome"
},
{
"code": "168782",
"display": "Childhood disintegrative disorder"
},
{
"code": "168796",
"display": "Heart-hand syndrome, Slovenian type"
},
{
"code": "168811",
"display": "Malignant peritoneal mesothelioma"
},
{
"code": "168816",
"display": "Peritoneal inclusion cyst"
},
{
"code": "168829",
"display": "Primary peritoneal carcinoma"
},
{
"code": "168940",
"display": "Chronic eosinophilic leukemia"
},
{
"code": "168947",
"display": "Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement"
},
{
"code": "168950",
"display": "Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement"
},
{
"code": "168953",
"display": "Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement"
},
{
"code": "168960",
"display": "Refractory anemia with excess blasts in transformation"
},
{
"code": "168966",
"display": "Composite lymphoma"
},
{
"code": "168984",
"display": "CLAPO syndrome"
},
{
"code": "168999",
"display": "Malignant melanoma of the mucosa"
},
{
"code": "169079",
"display": "Cernunnos-XLF deficiency"
},
{
"code": "169082",
"display": "Combined immunodeficiency due to CD3gamma deficiency"
},
{
"code": "169085",
"display": "Susceptibility to respiratory infections associated with CD8alpha chain mutation"
},
{
"code": "169090",
"display": "Combined immunodeficiency due to CRAC channel dysfunction"
},
{
"code": "169095",
"display": "Severe combined immunodeficiency due to FOXN1 deficiency"
},
{
"code": "169100",
"display": "Immunodeficiency due to CD25 deficiency"
},
{
"code": "169105",
"display": "Good syndrome"
},
{
"code": "169110",
"display": "Immunoglobulin heavy chain deficiency"
},
{
"code": "169139",
"display": "Transient hypogammaglobulinemia of infancy"
},
{
"code": "169142",
"display": "Recurrent infections due to specific granule deficiency"
},
{
"code": "169147",
"display": "Immunodeficiency due to a classical component pathway complement deficiency"
},
{
"code": "169150",
"display": "Immunodeficiency due to a late component of complement deficiency"
},
{
"code": "169154",
"display": "T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency"
},
{
"code": "169157",
"display": "T-B+ severe combined immunodeficiency due to CD45 deficiency"
},
{
"code": "169160",
"display": "T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta"
},
{
"code": "169186",
"display": "Autosomal recessive centronuclear myopathy"
},
{
"code": "169189",
"display": "Autosomal dominant centronuclear myopathy"
},
{
"code": "169464",
"display": "Primary CD59 deficiency"
},
{
"code": "169467",
"display": "Recurrent Neisseria infections due to factor D deficiency"
},
{
"code": "169793",
"display": "Severe hemophilia B"
},
{
"code": "169796",
"display": "Moderate hemophilia B"
},
{
"code": "169799",
"display": "Mild hemophilia B"
},
{
"code": "169802",
"display": "Severe hemophilia A"
},
{
"code": "169805",
"display": "Moderate hemophilia A"
},
{
"code": "169808",
"display": "Mild hemophilia A"
},
{
"code": "171220",
"display": "Rectal duplication"
},
{
"code": "171430",
"display": "Severe congenital nemaline myopathy"
},
{
"code": "171433",
"display": "Intermediate nemaline myopathy"
},
{
"code": "171436",
"display": "Typical nemaline myopathy"
},
{
"code": "171439",
"display": "Childhood-onset nemaline myopathy"
},
{
"code": "171442",
"display": "Adult-onset nemaline myopathy"
},
{
"code": "171445",
"display": "Muscle filaminopathy"
},
{
"code": "171607",
"display": "X-linked spastic paraplegia type 34"
},
{
"code": "171612",
"display": "Autosomal dominant spastic paraplegia type 37"
},
{
"code": "171617",
"display": "Autosomal dominant spastic paraplegia type 38"
},
{
"code": "171622",
"display": "Autosomal recessive spastic paraplegia type 32"
},
{
"code": "171629",
"display": "Autosomal recessive spastic paraplegia type 35"
},
{
"code": "171673",
"display": "Limbal stem cell deficiency"
},
{
"code": "171680",
"display": "Lissencephaly due to TUBA1A mutation"
},
{
"code": "171684",
"display": "Idiopathic bilateral vestibulopathy"
},
{
"code": "171690",
"display": "Metabolic myopathy due to lactate transporter defect"
},
{
"code": "171695",
"display": "Parkinsonian-pyramidal syndrome"
},
{
"code": "171700",
"display": "Diffuse panbronchiolitis"
},
{
"code": "171703",
"display": "Microcephaly-polymicrogyria-corpus callosum agenesis syndrome"
},
{
"code": "171706",
"display": "Short stature-delayed bone age due to thyroid hormone metabolism deficiency"
},
{
"code": "171709",
"display": "Male infertility due to globozoospermia"
},
{
"code": "171719",
"display": "Cutis laxa-Marfanoid syndrome"
},
{
"code": "171723",
"display": "White sponge nevus"
},
{
"code": "171829",
"display": "6q16 microdeletion syndrome"
},
{
"code": "171839",
"display": "Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome"
},
{
"code": "171844",
"display": "Blindness-scoliosis-arachnodactyly syndrome"
},
{
"code": "171848",
"display": "Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome"
},
{
"code": "171851",
"display": "MEDNIK syndrome"
},
{
"code": "171863",
"display": "Autosomal dominant spastic paraplegia type 42"
},
{
"code": "171866",
"display": "Spondyloepimetaphyseal dysplasia, aggrecan type"
},
{
"code": "171871",
"display": "Renal pseudohypoaldosteronism type 1"
},
{
"code": "171876",
"display": "Generalized pseudohypoaldosteronism type 1"
},
{
"code": "171881",
"display": "Cap myopathy"
},
{
"code": "171886",
"display": "Cylindrical spirals myopathy"
},
{
"code": "171889",
"display": "Myopathy with hexagonally cross-linked tubular arrays"
},
{
"code": "171929",
"display": "Trisomy 10p"
},
{
"code": "177901",
"display": "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1"
},
{
"code": "177904",
"display": "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2"
},
{
"code": "177907",
"display": "Prader-Willi syndrome due to translocation"
},
{
"code": "177910",
"display": "Prader-Willi syndrome due to imprinting mutation"
},
{
"code": "177926",
"display": "Bleeding disorder in hemophilia A carriers"
},
{
"code": "177929",
"display": "Bleeding disorder in hemophilia B carriers"
},
{
"code": "178029",
"display": "Arginine vasopressin deficiency"
},
{
"code": "178145",
"display": "Moderate multiminicore disease with hand involvement"
},
{
"code": "178148",
"display": "Antenatal multiminicore disease with arthrogryposis multiplex congenita"
},
{
"code": "178303",
"display": "8q22.1 microdeletion syndrome"
},
{
"code": "178307",
"display": "Reticulate acropigmentation of Kitamura"
},
{
"code": "178311",
"display": "Isolated sternocostoclavicular hyperostosis"
},
{
"code": "178315",
"display": "Undifferentiated embryonal sarcoma of the liver"
},
{
"code": "178320",
"display": "Acute lung injury"
},
{
"code": "178333",
"display": "Åland Islands eye disease"
},
{
"code": "178338",
"display": "UV-sensitive syndrome"
},
{
"code": "178342",
"display": "Inflammatory myofibroblastic tumor"
},
{
"code": "178345",
"display": "Aromatase excess syndrome"
},
{
"code": "178355",
"display": "Smith-McCort dysplasia"
},
{
"code": "178364",
"display": "Syndromic microphthalmia type 5"
},
{
"code": "178377",
"display": "Osteosclerosis-developmental delay-craniosynostosis syndrome"
},
{
"code": "178382",
"display": "Congenital vertical talus"
},
{
"code": "178389",
"display": "Osteopetrosis-hypogammaglobulinemia syndrome"
},
{
"code": "178396",
"display": "Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation"
},
{
"code": "178400",
"display": "Distal myopathy with anterior tibial onset"
},
{
"code": "178461",
"display": "X-linked myopathy with postural muscle atrophy"
},
{
"code": "178464",
"display": "Hereditary myopathy with early respiratory failure"
},
{
"code": "178469",
"display": "Autosomal dominant non-syndromic intellectual disability"
},
{
"code": "178475",
"display": "Wound botulism"
},
{
"code": "178478",
"display": "Infant botulism"
},
{
"code": "178481",
"display": "Intestinal botulism"
},
{
"code": "178487",
"display": "Adult intestinal botulism"
},
{
"code": "178506",
"display": "Brain calcification, Rajab type"
},
{
"code": "178509",
"display": "Perry syndrome"
},
{
"code": "178512",
"display": "Folliculotropic mycosis fungoides"
},
{
"code": "178517",
"display": "Localized pagetoid reticulosis"
},
{
"code": "178522",
"display": "Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma"
},
{
"code": "178528",
"display": "Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma"
},
{
"code": "178533",
"display": "Primary cutaneous gamma/delta-positive T-cell lymphoma"
},
{
"code": "178536",
"display": "Primary cutaneous marginal zone B-cell lymphoma"
},
{
"code": "178540",
"display": "Primary cutaneous follicle center lymphoma"
},
{
"code": "178544",
"display": "Primary cutaneous diffuse large B-cell lymphoma, leg type"
},
{
"code": "179490",
"display": "Obesity due to congenital leptin resistance"
},
{
"code": "179494",
"display": "Obesity due to leptin receptor gene deficiency"
},
{
"code": "180074",
"display": "True unicornuate uterus"
},
{
"code": "180079",
"display": "Pseudounicornuate uterus"
},
{
"code": "180086",
"display": "Didelphys uterus"
},
{
"code": "180106",
"display": "Bicervical bicornuate uterus and blind hemivagina"
},
{
"code": "180111",
"display": "Bicervical bicornuate uterus with patent cervix and vagina"
},
{
"code": "180114",
"display": "Unicervical bicornuate uterus"
},
{
"code": "180126",
"display": "Complete septate uterus"
},
{
"code": "180129",
"display": "Partial septate uterus"
},
{
"code": "180139",
"display": "Uterine hypoplasia"
},
{
"code": "180142",
"display": "Absence of uterine body"
},
{
"code": "180145",
"display": "Uterine cervical aplasia and agenesis"
},
{
"code": "180154",
"display": "Septate vagina"
},
{
"code": "180157",
"display": "Longitudinal vaginal septum"
},
{
"code": "180160",
"display": "Transverse vaginal septum"
},
{
"code": "180176",
"display": "Familial juvenile hypertrophy of the breast"
},
{
"code": "180182",
"display": "Supernumerary breasts"
},
{
"code": "180188",
"display": "Isolated congenital breast hypoplasia/aplasia"
},
{
"code": "180226",
"display": "Embryonal carcinoma"
},
{
"code": "180229",
"display": "Polyembryoma"
},
{
"code": "180234",
"display": "Mixed germ cell tumor"
},
{
"code": "180237",
"display": "Benign tumor of fallopian tubes"
},
{
"code": "180242",
"display": "Malignant tumor of fallopian tubes"
},
{
"code": "180247",
"display": "Vaginal carcinoma"
},
{
"code": "180261",
"display": "Phyllodes tumor of the breast"
},
{
"code": "180267",
"display": "Giant adenofibroma of the breast"
},
{
"code": "180275",
"display": "Paget disease of the nipple"
},
{
"code": "182050",
"display": "MYH9-related disease"
},
{
"code": "182127",
"display": "Extragonadal germinoma"
},
{
"code": "183663",
"display": "Hyper-IgM syndrome with susceptibility to opportunistic infections"
},
{
"code": "183666",
"display": "Hyper-IgM syndrome without susceptibility to opportunistic infections"
},
{
"code": "183675",
"display": "Recurrent infections associated with rare immunoglobulin isotypes deficiency"
},
{
"code": "183678",
"display": "Hermansky-Pudlak syndrome due to AP-3 deficiency"
},
{
"code": "183707",
"display": "Infantile LAD-like disease due to RAC2 deficiency"
},
{
"code": "183713",
"display": "Bacterial susceptibility due to TLR signaling pathway deficiency"
},
{
"code": "189427",
"display": "Cushing syndrome due to bilateral macronodular adrenocortical disease"
},
{
"code": "189466",
"display": "Familial isolated hypoparathyroidism due to impaired PTH secretion"
},
{
"code": "199241",
"display": "Pulmonary capillary hemangiomatosis"
},
{
"code": "199244",
"display": "Nelson syndrome"
},
{
"code": "199247",
"display": "Corticosteroid-binding globulin deficiency"
},
{
"code": "199251",
"display": "Ledderhose disease"
},
{
"code": "199260",
"display": "Calcifying aponeurotic fibroma"
},
{
"code": "199267",
"display": "Infantile digital fibromatosis"
},
{
"code": "199276",
"display": "Familial multiple lipomatosis"
},
{
"code": "199279",
"display": "Familial angiolipomatosis"
},
{
"code": "199282",
"display": "Harlequin syndrome"
},
{
"code": "199285",
"display": "Hereditary hypercarotenemia and vitamin A deficiency"
},
{
"code": "199293",
"display": "Congenital microgastria"
},
{
"code": "199296",
"display": "Congenital isolated ACTH deficiency"
},
{
"code": "199299",
"display": "Late-onset isolated ACTH deficiency"
},
{
"code": "199302",
"display": "Isolated cleft lip"
},
{
"code": "199306",
"display": "Cleft lip/palate"
},
{
"code": "199310",
"display": "Tetragametic chimerism"
},
{
"code": "199315",
"display": "Familial clubfoot with or without associated lower limb anomalies"
},
{
"code": "199318",
"display": "15q13.3 microdeletion syndrome"
},
{
"code": "199323",
"display": "Endophthalmitis"
},
{
"code": "199326",
"display": "Isolated autosomal dominant hypomagnesemia, Glaudemans type"
},
{
"code": "199329",
"display": "Congenital myopathy, Paradas type"
},
{
"code": "199332",
"display": "Endocrine-cerebro-osteodysplasia syndrome"
},
{
"code": "199337",
"display": "Pancreatic insufficiency-anemia-hyperostosis syndrome"
},
{
"code": "199340",
"display": "Muscular dystrophy, Selcen type"
},
{
"code": "199343",
"display": "EAST syndrome"
},
{
"code": "199348",
"display": "Thiamine-responsive encephalopathy"
},
{
"code": "199351",
"display": "Adult-onset dystonia-parkinsonism"
},
{
"code": "199354",
"display": "Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy"
},
{
"code": "199627",
"display": "Atypical autism"
},
{
"code": "199630",
"display": "Isolated cerebellar vermis hypoplasia"
},
{
"code": "199642",
"display": "Isolated congenital microcephaly"
},
{
"code": "199647",
"display": "Isolated encephalocele"
},
{
"code": "200418",
"display": "Immunodeficiency with factor I anomaly"
},
{
"code": "200421",
"display": "Immunodeficiency with factor H anomaly"
},
{
"code": "206436",
"display": "Infantile Krabbe disease"
},
{
"code": "206443",
"display": "Late-infantile/juvenile Krabbe disease"
},
{
"code": "206448",
"display": "Adult Krabbe disease"
},
{
"code": "206470",
"display": "Cystadenoma of childhood"
},
{
"code": "206484",
"display": "Gonadoblastoma"
},
{
"code": "206489",
"display": "Malignant germ cell tumor of the vagina"
},
{
"code": "206492",
"display": "Vulvovaginal rhabdomyosarcoma"
},
{
"code": "206538",
"display": "Malignant non-dysgerminomatous germ cell tumor of ovary"
},
{
"code": "206546",
"display": "Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers"
},
{
"code": "206549",
"display": "Anoctamin-5-related limb-girdle muscular dystrophy R12"
},
{
"code": "206554",
"display": "Fukutin-related limb-girdle muscular dystrophy R13"
},
{
"code": "206559",
"display": "POMT2-related limb-girdle muscular dystrophy R14"
},
{
"code": "206564",
"display": "POMGNT1-related limb-girdle muscular dystrophy R15"
},
{
"code": "206569",
"display": "Immune-mediated necrotizing myopathy"
},
{
"code": "206572",
"display": "Overlap myositis"
},
{
"code": "206575",
"display": "Rippling muscle disease with myasthenia gravis"
},
{
"code": "206580",
"display": "Autosomal recessive lower motor neuron disease with childhood onset"
},
{
"code": "206583",
"display": "Adult polyglucosan body disease"
},
{
"code": "206586",
"display": "Neurolymphomatosis"
},
{
"code": "206594",
"display": "Subacute inflammatory demyelinating polyneuropathy"
},
{
"code": "206599",
"display": "Isolated asymptomatic elevation of creatine phosphokinase"
},
{
"code": "206991",
"display": "Viral myositis"
},
{
"code": "206994",
"display": "Bacterial myositis"
},
{
"code": "207000",
"display": "Fungal myositis"
},
{
"code": "208441",
"display": "Bilateral parasagittal parieto-occipital polymicrogyria"
},
{
"code": "208444",
"display": "Bilateral frontal polymicrogyria"
},
{
"code": "208447",
"display": "Bilateral generalized polymicrogyria"
},
{
"code": "208513",
"display": "Spinocerebellar ataxia type 29"
},
{
"code": "208524",
"display": "Herpetiform pemphigus"
},
{
"code": "208989",
"display": "Non-paraneoplastic sensory ganglionopathy"
},
{
"code": "208999",
"display": "Paraneoplastic sensory ganglionopathy"
},
{
"code": "209004",
"display": "Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy"
},
{
"code": "209335",
"display": "Autosomal dominant adult-onset proximal spinal muscular atrophy"
},
{
"code": "209341",
"display": "DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy"
},
{
"code": "209370",
"display": "Severe neonatal-onset encephalopathy with microcephaly"
},
{
"code": "209867",
"display": "Autosomal dominant rhegmatogenous retinal detachment"
},
{
"code": "209902",
"display": "Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency"
},
{
"code": "209905",
"display": "Brain-lung-thyroid syndrome"
},
{
"code": "209908",
"display": "Isolated childhood apraxia of speech"
},
{
"code": "209916",
"display": "Extraskeletal myxoid chondrosarcoma"
},
{
"code": "209919",
"display": "Idiopathic copper-associated cirrhosis"
},
{
"code": "209932",
"display": "Cone dystrophy with supernormal rod response"
},
{
"code": "209943",
"display": "IRVAN syndrome"
},
{
"code": "209951",
"display": "Autosomal spastic paraplegia type 18"
},
{
"code": "209956",
"display": "Idiopathic uveal effusion syndrome"
},
{
"code": "209959",
"display": "Phacoanaphylactic uveitis"
},
{
"code": "209964",
"display": "Solitary rectal ulcer syndrome"
},
{
"code": "209967",
"display": "Episodic ataxia type 6"
},
{
"code": "209970",
"display": "Episodic ataxia type 7"
},
{
"code": "209973",
"display": "Benign nocturnal alternating hemiplegia of childhood"
},
{
"code": "209981",
"display": "IRIDA syndrome"
},
{
"code": "209989",
"display": "Non-papillary transitional cell carcinoma of the bladder"
},
{
"code": "210110",
"display": "Intermediate osteopetrosis"
},
{
"code": "210115",
"display": "Sterile multifocal osteomyelitis with periostitis and pustulosis"
},
{
"code": "210122",
"display": "Congenital alveolar capillary dysplasia"
},
{
"code": "210128",
"display": "Urocanic aciduria"
},
{
"code": "210133",
"display": "Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome"
},
{
"code": "210136",
"display": "Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome"
},
{
"code": "210141",
"display": "Inherited congenital spastic tetraplegia"
},
{
"code": "210144",
"display": "Lethal polymalformative syndrome, Boissel type"
},
{
"code": "210159",
"display": "Adult hepatocellular carcinoma"
},
{
"code": "210163",
"display": "Congenital lethal myopathy, Compton-North type"
},
{
"code": "210272",
"display": "Mal de débarquement"
},
{
"code": "210548",
"display": "Macrocephaly-intellectual disability-autism syndrome"
},
{
"code": "210571",
"display": "Dystonia 16"
},
{
"code": "210576",
"display": "Congenital temporomandibular joint ankylosis"
},
{
"code": "210584",
"display": "Spindle cell hemangioma"
},
{
"code": "211017",
"display": "Spinocerebellar ataxia type 30"
},
{
"code": "211067",
"display": "Episodic ataxia type 5"
},
{
"code": "213504",
"display": "Adenocarcinoma of ovary"
},
{
"code": "213512",
"display": "Malignant mixed Müllerian tumor of the ovary"
},
{
"code": "213528",
"display": "Rare adenocarcinoma of the breast"
},
{
"code": "213531",
"display": "Metaplastic carcinoma of the breast"
},
{
"code": "213557",
"display": "Salivary gland type cancer of the breast"
},
{
"code": "213600",
"display": "Adenosarcoma of the corpus uteri"
},
{
"code": "213605",
"display": "Carcinofibroma of the corpus uteri"
},
{
"code": "213610",
"display": "Carcinosarcoma of the corpus uteri"
},
{
"code": "213615",
"display": "Rhabdomyosarcoma of the corpus uteri"
},
{
"code": "213625",
"display": "Leiomyosarcoma of the corpus uteri"
},
{
"code": "213630",
"display": "Primitive neuroectodermal tumor of the corpus uteri"
},
{
"code": "213711",
"display": "Endometrial stromal sarcoma"
},
{
"code": "213716",
"display": "Squamous cell carcinoma of the corpus uteri"
},
{
"code": "213721",
"display": "Undifferentiated carcinoma of the corpus uteri"
},
{
"code": "213726",
"display": "Serous carcinoma of the corpus uteri"
},
{
"code": "213731",
"display": "High-grade neuroendocrine carcinoma of the corpus uteri"
},
{
"code": "213736",
"display": "Low-grade neuroendocrine tumor of the corpus uteri"
},
{
"code": "213746",
"display": "Transitional cell carcinoma of the corpus uteri"
},
{
"code": "213751",
"display": "Malignant germ cell tumor of the corpus uteri"
},
{
"code": "213767",
"display": "Squamous cell carcinoma of the cervix uteri"
},
{
"code": "213772",
"display": "Adenocarcinoma of the cervix uteri"
},
{
"code": "213777",
"display": "High-grade neuroendocrine carcinoma of the cervix uteri"
},
{
"code": "213787",
"display": "Carcinosarcoma of the cervix uteri"
},
{
"code": "213792",
"display": "Adenosarcoma of the cervix uteri"
},
{
"code": "213802",
"display": "Rhabdomyosarcoma of the cervix uteri"
},
{
"code": "213807",
"display": "Leiomyosarcoma of the cervix uteri"
},
{
"code": "213812",
"display": "Primitive neuroectodermal tumor of the cervix uteri"
},
{
"code": "213823",
"display": "Adenoid cystic carcinoma of the cervix uteri"
},
{
"code": "213828",
"display": "Adenoid basal carcinoma of the cervix uteri"
},
{
"code": "213833",
"display": "Glassy cell carcinoma of the cervix uteri"
},
{
"code": "213837",
"display": "Malignant germ cell tumor of the cervix uteri"
},
{
"code": "216694",
"display": "Congenitally corrected transposition of the great arteries"
},
{
"code": "216718",
"display": "Isolated congenitally uncorrected transposition of the great arteries"
},
{
"code": "216729",
"display": "Congenitally uncorrected transposition of the great arteries with cardiac malformation"
},
{
"code": "216796",
"display": "Osteogenesis imperfecta type 1"
},
{
"code": "216804",
"display": "Osteogenesis imperfecta type 2"
},
{
"code": "216812",
"display": "Osteogenesis imperfecta type 3"
},
{
"code": "216820",
"display": "Osteogenesis imperfecta type 4"
},
{
"code": "216828",
"display": "Osteogenesis imperfecta type 5"
},
{
"code": "216866",
"display": "Classic pantothenate kinase-associated neurodegeneration"
},
{
"code": "216873",
"display": "Atypical pantothenate kinase-associated neurodegeneration"
},
{
"code": "216972",
"display": "Niemann-Pick disease type C, severe perinatal form"
},
{
"code": "216975",
"display": "Niemann-Pick disease type C, severe early infantile neurologic onset"
},
{
"code": "216978",
"display": "Niemann-Pick disease type C, late infantile neurologic onset"
},
{
"code": "216981",
"display": "Niemann-Pick disease type C, juvenile neurologic onset"
},
{
"code": "216986",
"display": "Niemann-Pick disease type C, adult neurologic onset"
},
{
"code": "217008",
"display": "Bockenheimer syndrome"
},
{
"code": "217012",
"display": "Spinocerebellar ataxia type 31"
},
{
"code": "217017",
"display": "Zechi-Ceide syndrome"
},
{
"code": "217026",
"display": "Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type"
},
{
"code": "217055",
"display": "Autosomal recessive intermediate Charcot-Marie-Tooth disease type A"
},
{
"code": "217059",
"display": "Isolated nail clubbing"
},
{
"code": "217064",
"display": "5-fluorouracil poisoning"
},
{
"code": "217067",
"display": "Pouchitis"
},
{
"code": "217080",
"display": "Pulmonary fungal infections in patients deemed at risk"
},
{
"code": "217085",
"display": "Mucopolysaccharidosis type 2, severe form"
},
{
"code": "217093",
"display": "Mucopolysaccharidosis type 2, attenuated form"
},
{
"code": "217253",
"display": "NMDA receptor encephalitis"
},
{
"code": "217260",
"display": "Progressive multifocal leukoencephalopathy"
},
{
"code": "217266",
"display": "BNAR syndrome"
},
{
"code": "217330",
"display": "REN-related autosomal dominant tubulointerstitial kidney disease"
},
{
"code": "217335",
"display": "RIN2 syndrome"
},
{
"code": "217340",
"display": "17q21.31 microduplication syndrome"
},
{
"code": "217346",
"display": "19q13.11 microdeletion syndrome"
},
{
"code": "217371",
"display": "Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins"
},
{
"code": "217377",
"display": "Microduplication Xp11.22p11.23 syndrome"
},
{
"code": "217382",
"display": "Neurodegenerative syndrome due to cerebral folate transport deficiency"
},
{
"code": "217385",
"display": "17p13.3 microduplication syndrome"
},
{
"code": "217390",
"display": "Combined immunodeficiency due to DOCK8 deficiency"
},
{
"code": "217396",
"display": "Progressive polyneuropathy with bilateral striatal necrosis"
},
{
"code": "217399",
"display": "Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation"
},
{
"code": "217407",
"display": "Hereditary hypotrichosis with recurrent skin vesicles"
},
{
"code": "217467",
"display": "Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency"
},
{
"code": "217557",
"display": "Pulmonary interstitial glycogenosis"
},
{
"code": "217560",
"display": "Neuroendocrine cell hyperplasia of infancy"
},
{
"code": "217563",
"display": "Neonatal acute respiratory distress due to SP-B deficiency"
},
{
"code": "217566",
"display": "Chronic respiratory distress with surfactant metabolism deficiency"
},
{
"code": "217622",
"display": "Sensorineural deafness with dilated cardiomyopathy"
},
{
"code": "217656",
"display": "Inherited isolated arrhythmogenic cardiomyopathy"
},
{
"code": "220295",
"display": "Xeroderma pigmentosum-Cockayne syndrome complex"
},
{
"code": "220386",
"display": "Semilobar holoprosencephaly"
},
{
"code": "220393",
"display": "Diffuse cutaneous systemic sclerosis"
},
{
"code": "220402",
"display": "Limited cutaneous systemic sclerosis"
},
{
"code": "220407",
"display": "Limited systemic sclerosis"
},
{
"code": "220436",
"display": "Quebec platelet disorder"
},
{
"code": "220443",
"display": "Bleeding diathesis due to thromboxane synthesis deficiency"
},
{
"code": "220448",
"display": "Macrothrombocytopenia with mitral valve insufficiency"
},
{
"code": "220460",
"display": "Attenuated familial adenomatous polyposis"
},
{
"code": "220465",
"display": "Laron syndrome with immunodeficiency"
},
{
"code": "220493",
"display": "Joubert syndrome with ocular defect"
},
{
"code": "220497",
"display": "Joubert syndrome with renal defect"
},
{
"code": "221008",
"display": "Rothmund-Thomson syndrome type 1"
},
{
"code": "221016",
"display": "Rothmund-Thomson syndrome type 2"
},
{
"code": "221039",
"display": "Hereditary sclerosing poikiloderma, Weary type"
},
{
"code": "221043",
"display": "Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome"
},
{
"code": "221046",
"display": "Poikiloderma with neutropenia"
},
{
"code": "221054",
"display": "Acrocephalopolydactyly"
},
{
"code": "221061",
"display": "Familial cerebral cavernous malformation"
},
{
"code": "221074",
"display": "Marchiafava-Bignami disease"
},
{
"code": "221078",
"display": "Combined hyperactive dysfunction syndrome of the cranial nerves"
},
{
"code": "221083",
"display": "Hemifacial spasm"
},
{
"code": "221091",
"display": "Trigeminal neuralgia"
},
{
"code": "221098",
"display": "Glossopharyngeal neuralgia"
},
{
"code": "221117",
"display": "Gerstmann syndrome"
},
{
"code": "221120",
"display": "Pseudoaminopterin syndrome"
},
{
"code": "221126",
"display": "Fowler vasculopathy"
},
{
"code": "221139",
"display": "Combined immunodeficiency with facio-oculo-skeletal anomalies"
},
{
"code": "221142",
"display": "Confetti-like macular atrophy"
},
{
"code": "221145",
"display": "Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies"
},
{
"code": "225123",
"display": "TFR2-related hemochromatosis"
},
{
"code": "225147",
"display": "Sporadic infantile bilateral striatal necrosis"
},
{
"code": "225154",
"display": "Familial infantile bilateral striatal necrosis"
},
{
"code": "226307",
"display": "Hypothyroidism due to deficient transcription factors involved in pituitary development or function"
},
{
"code": "226313",
"display": "Congenital hypothyroidism due to maternal intake of antithyroid drugs"
},
{
"code": "226316",
"display": "Genetic transient congenital hypothyroidism"
},
{
"code": "227510",
"display": "Multiple system atrophy, cerebellar type"
},
{
"code": "227535",
"display": "Hereditary breast cancer"
},
{
"code": "227796",
"display": "Fundus albipunctatus"
},
{
"code": "227972",
"display": "Toxic oil syndrome"
},
{
"code": "227976",
"display": "Autosomal recessive optic atrophy, OPA7 type"
},
{
"code": "227982",
"display": "Autoimmune polyendocrinopathy type 3"
},
{
"code": "227990",
"display": "Autoimmune polyendocrinopathy type 4"
},
{
"code": "228000",
"display": "Idiopathic CD4 lymphocytopenia"
},
{
"code": "228003",
"display": "Severe combined immunodeficiency due to CORO1A deficiency"
},
{
"code": "228012",
"display": "Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome"
},
{
"code": "228113",
"display": "Anal fistula"
},
{
"code": "228116",
"display": "Hughes-Stovin syndrome"
},
{
"code": "228119",
"display": "Fusariosis"
},
{
"code": "228123",
"display": "Coccidioidomycosis"
},
{
"code": "228140",
"display": "Idiopathic ventricular fibrillation, non Brugada type"
},
{
"code": "228157",
"display": "Marburg acute multiple sclerosis"
},
{
"code": "228165",
"display": "Baló concentric sclerosis"
},
{
"code": "228169",
"display": "Autosomal dominant striatal neurodegeneration"
},
{
"code": "228174",
"display": "Autosomal dominant Charcot-Marie-Tooth disease type 2N"
},
{
"code": "228179",
"display": "Autosomal dominant Charcot-Marie-Tooth disease type 2M"
},
{
"code": "228190",
"display": "Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome"
},
{
"code": "228227",
"display": "Late-onset focal dermal elastosis"
},
{
"code": "228236",
"display": "Linear focal elastosis"
},
{
"code": "228240",
"display": "Elastoderma"
},
{
"code": "228243",
"display": "Elastofibroma dorsi"
},
{
"code": "228247",
"display": "Acquired pseudoxanthoma elasticum"
},
{
"code": "228254",
"display": "Elastoma"
},
{
"code": "228264",
"display": "Papular elastorrhexis"
},
{
"code": "228272",
"display": "Primary anetoderma"
},
{
"code": "228277",
"display": "Familial anetoderma"
},
{
"code": "228285",
"display": "Acquired cutis laxa"
},
{
"code": "228290",
"display": "White fibrous papulosis of the neck"
},
{
"code": "228293",
"display": "Pseudoxanthoma elasticum-like papillary dermal elastolysis"
},
{
"code": "228299",
"display": "Mid-dermal elastolysis"
},
{
"code": "228302",
"display": "Carnitine palmitoyl transferase II deficiency, myopathic form"
},
{
"code": "228305",
"display": "Carnitine palmitoyl transferase II deficiency, severe infantile form"
},
{
"code": "228308",
"display": "Carnitine palmitoyl transferase II deficiency, neonatal form"
},
{
"code": "228329",
"display": "CLN1 disease"
},
{
"code": "228337",
"display": "CLN10 disease"
},
{
"code": "228343",
"display": "CLN4 disease"
},
{
"code": "228346",
"display": "CLN3 disease"
},
{
"code": "228349",
"display": "CLN2 disease"
},
{
"code": "228354",
"display": "CLN8 disease"
},
{
"code": "228360",
"display": "CLN5 disease"
},
{
"code": "228363",
"display": "CLN6 disease"
},
{
"code": "228366",
"display": "CLN7 disease"
},
{
"code": "228371",
"display": "Foodborne botulism"
},
{
"code": "228374",
"display": "Charcot-Marie-Tooth disease type 2B5"
},
{
"code": "228379",
"display": "Virus-associated trichodysplasia spinulosa"
},
{
"code": "228384",
"display": "5q14.3 microdeletion syndrome"
},
{
"code": "228387",
"display": "Spondylo-megaepiphyseal-metaphyseal dysplasia"
},
{
"code": "228390",
"display": "Frontonasal dysplasia-alopecia-genital anomalies syndrome"
},
{
"code": "228396",
"display": "Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome"
},
{
"code": "228399",
"display": "8q12 microduplication syndrome"
},
{
"code": "228402",
"display": "2q23.1 microdeletion syndrome"
},
{
"code": "228410",
"display": "Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome"
},
{
"code": "228415",
"display": "5q35 microduplication syndrome"
},
{
"code": "228423",
"display": "GATA2 deficiency spectrum"
},
{
"code": "228426",
"display": "Syndromic multisystem autoimmune disease due to Itch deficiency"
},
{
"code": "229717",
"display": "Isolated agammaglobulinemia"
},
{
"code": "230800",
"display": "Toxin-mediated infectious botulism"
},
{
"code": "230839",
"display": "Classical-like Ehlers-Danlos syndrome type 1"
},
{
"code": "230851",
"display": "Cardiac-valvular Ehlers-Danlos syndrome"
},
{
"code": "230857",
"display": "Ehlers-Danlos/osteogenesis imperfecta syndrome"
},
{
"code": "231013",
"display": "Congenital trigeminal anesthesia"
},
{
"code": "231031",
"display": "Erythema palmare hereditarium"
},
{
"code": "231040",
"display": "Familial generalized lentiginosis"
},
{
"code": "231080",
"display": "High-grade dysplasia in patients with Barrett esophagus"
},
{
"code": "231108",
"display": "Rhabdoid tumor predisposition syndrome"
},
{
"code": "231111",
"display": "Drug-induced lupus erythematosus"
},
{
"code": "231117",
"display": "Beckwith-Wiedemann syndrome due to imprinting defect of 11p15"
},
{
"code": "231120",
"display": "Beckwith-Wiedemann syndrome due to CDKN1C mutation"
},
{
"code": "231127",
"display": "Beckwith-Wiedemann syndrome due to 11p15 microdeletion"
},
{
"code": "231130",
"display": "Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion"
},
{
"code": "231137",
"display": "Silver-Russell syndrome due to 7p11.2p13 microduplication"
},
{
"code": "231140",
"display": "Silver-Russell syndrome due to an imprinting defect of 11p15"
},
{
"code": "231144",
"display": "Silver-Russell syndrome due to 11p15 microduplication"
},
{
"code": "231147",
"display": "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11"
},
{
"code": "231154",
"display": "Combined immunodeficiency due to partial RAG1 deficiency"
},
{
"code": "231160",
"display": "Familial cerebral saccular aneurysm"
},
{
"code": "231169",
"display": "Usher syndrome type 1"
},
{
"code": "231178",
"display": "Usher syndrome type 2"
},
{
"code": "231183",
"display": "Usher syndrome type 3"
},
{
"code": "231214",
"display": "Beta-thalassemia major"
},
{
"code": "231222",
"display": "Beta-thalassemia intermedia"
},
{
"code": "231226",
"display": "Dominant beta-thalassemia"
},
{
"code": "231237",
"display": "Delta-beta-thalassemia"
},
{
"code": "231242",
"display": "Hemoglobin C-beta-thalassemia syndrome"
},
{
"code": "231249",
"display": "Hemoglobin E-beta-thalassemia syndrome"
},
{
"code": "231393",
"display": "Beta-thalassemia-X-linked thrombocytopenia syndrome"
},
{
"code": "231401",
"display": "Alpha-thalassemia-myelodysplastic syndrome"
},
{
"code": "231426",
"display": "Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome"
},
{
"code": "231445",
"display": "Paraparetic variant of Guillain-Barré syndrome"
},
{
"code": "231450",
"display": "Acute pure sensory neuropathy"
},
{
"code": "231457",
"display": "Acute pandysautonomia"
},
{
"code": "231466",
"display": "Acute sensory ataxic neuropathy"
},
{
"code": "231500",
"display": "Hermansky-Pudlak syndrome due to BLOC-3 deficiency"
},
{
"code": "231512",
"display": "Hermansky-Pudlak syndrome due to BLOC-2 deficiency"
},
{
"code": "231531",
"display": "Hermansky-Pudlak syndrome due to BLOC-1 deficiency"
},
{
"code": "231556",
"display": "Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome"
},
{
"code": "231568",
"display": "Autosomal dominant generalized dystrophic epidermolysis bullosa"
},
{
"code": "231573",
"display": "Congenital erosive and vesicular dermatosis"
},
{
"code": "231580",
"display": "Primary unilateral adrenal hyperplasia"
},
{
"code": "231625",
"display": "Adrenocortical carcinoma with pure aldosterone hypersecretion"
},
{
"code": "231632",
"display": "Ectopic aldosterone-producing tumor"
},
{
"code": "231662",
"display": "Isolated growth hormone deficiency type IA"
},
{
"code": "231671",
"display": "Isolated growth hormone deficiency type IB"
},
{
"code": "231679",
"display": "Isolated growth hormone deficiency type II"
},
{
"code": "231692",
"display": "Isolated growth hormone deficiency type III"
},
{
"code": "231720",
"display": "Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome"
},
{
"code": "231736",
"display": "Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome"
},
{
"code": "231742",
"display": "Epibulbar lipodermoid-preauricular appendage-polythelia syndrome"
},
{
"code": "238269",
"display": "AApoAII amyloidosis"
},
{
"code": "238305",
"display": "Infundibulo-neurohypophysitis"
},
{
"code": "238329",
"display": "Severe X-linked mitochondrial encephalomyopathy"
},
{
"code": "238446",
"display": "15q11q13 microduplication syndrome"
},
{
"code": "238455",
"display": "Infantile dystonia-parkinsonism"
},
{
"code": "238459",
"display": "SLC35A1-CDG"
},
{
"code": "238468",
"display": "Hypohidrotic ectodermal dysplasia"
},
{
"code": "238475",
"display": "Familial hypercholanemia"
},
{
"code": "238505",
"display": "Combined immunodeficiency due to CD27 deficiency"
},
{
"code": "238523",
"display": "Atypical hypotonia-cystinuria syndrome"
},
{
"code": "238557",
"display": "Chuvash erythrocytosis"
},
{
"code": "238569",
"display": "Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome"
},
{
"code": "238578",
"display": "Familial clubfoot due to 17q23.1q23.2 microduplication"
},
{
"code": "238583",
"display": "Hyperphenylalaninemia due to tetrahydrobiopterin deficiency"
},
{
"code": "238593",
"display": "IgG4-related mesenteritis"
},
{
"code": "238606",
"display": "Primary orthostatic tremor"
},
{
"code": "238613",
"display": "Beckwith-Wiedemann syndrome due to NSD1 mutation"
},
{
"code": "238621",
"display": "Ileal pouch anal anastomosis related faecal incontinence"
},
{
"code": "238624",
"display": "Idiopathic intracranial hypertension"
},
{
"code": "238637",
"display": "Megacystis-megaureter syndrome"
},
{
"code": "238642",
"display": "Primary megaureter, adult-onset form"
},
{
"code": "238646",
"display": "Congenital primary megaureter, obstructed form"
},
{
"code": "238650",
"display": "Congenital primary megaureter, refluxing form"
},
{
"code": "238654",
"display": "Congenital primary megaureter, nonrefluxing and unobstructed form"
},
{
"code": "238666",
"display": "Isolated congenital hypogonadotropic hypogonadism"
},
{
"code": "238670",
"display": "Isolated thyrotropin-releasing hormone deficiency"
},
{
"code": "238688",
"display": "Neonatal iodine exposure"
},
{
"code": "238722",
"display": "Familial congenital mirror movements"
},
{
"code": "238744",
"display": "Mammary-digital-nail syndrome"
},
{
"code": "238750",
"display": "4q21 microdeletion syndrome"
},
{
"code": "238763",
"display": "Glaucoma secondary to spherophakia/ectopia lentis and megalocornea"
},
{
"code": "238769",
"display": "1q44 microdeletion syndrome"
},
{
"code": "240071",
"display": "Classic progressive supranuclear palsy syndrome"
},
{
"code": "240085",
"display": "Progressive supranuclear palsy-predominant parkinsonism syndrome"
},
{
"code": "240094",
"display": "Progressive supranuclear palsy-pure akinesia with gait freezing syndrome"
},
{
"code": "240103",
"display": "Progressive supranuclear palsy-corticobasal syndrome"
},
{
"code": "240112",
"display": "Progressive supranuclear palsy-progressive non-fluent aphasia syndrome"
},
{
"code": "240760",
"display": "Nijmegen breakage syndrome-like disorder"
},
{
"code": "243343",
"display": "Dimethylglycine dehydrogenase deficiency"
},
{
"code": "243367",
"display": "Acute fatty liver of pregnancy"
},
{
"code": "244242",
"display": "HELLP syndrome"
},
{
"code": "244275",
"display": "De novo thrombotic microangiopathy after kidney transplantation"
},
{
"code": "244283",
"display": "Biliary atresia with splenic malformation syndrome"
},
{
"code": "244305",
"display": "Dominant hypophosphatemia with nephrolithiasis or osteoporosis"
},
{
"code": "244310",
"display": "RFT1-CDG"
},
{
"code": "247165",
"display": "Infantile mercury poisoning"
},
{
"code": "247198",
"display": "Progressive cerebello-cerebral atrophy"
},
{
"code": "247203",
"display": "Collecting duct carcinoma"
},
{
"code": "247234",
"display": "Sporadic adult-onset ataxia of unknown etiology"
},
{
"code": "247245",
"display": "Superficial siderosis"
},
{
"code": "247257",
"display": "Inhalational anthrax"
},
{
"code": "247262",
"display": "Hyperphosphatasia-intellectual disability syndrome"
},
{
"code": "247353",
"display": "Generalized pustular psoriasis"
},
{
"code": "247378",
"display": "Autosomal recessive secondary polycythemia not associated with VHL gene"
},
{
"code": "247511",
"display": "Autosomal dominant secondary polycythemia"
},
{
"code": "247522",
"display": "Primary ciliary dyskinesia-retinitis pigmentosa syndrome"
},
{
"code": "247525",
"display": "Citrullinemia type I"
},
{
"code": "247546",
"display": "Acute neonatal citrullinemia type I"
},
{
"code": "247573",
"display": "Late-onset citrullinemia type I"
},
{
"code": "247585",
"display": "Citrullinemia type II"
},
{
"code": "247598",
"display": "Neonatal intrahepatic cholestasis due to citrin deficiency"
},
{
"code": "247604",
"display": "Juvenile primary lateral sclerosis"
},
{
"code": "247623",
"display": "Perinatal lethal hypophosphatasia"
},
{
"code": "247638",
"display": "Prenatal benign hypophosphatasia"
},
{
"code": "247651",
"display": "Infantile hypophosphatasia"
},
{
"code": "247667",
"display": "Childhood-onset hypophosphatasia"
},
{
"code": "247676",
"display": "Adult hypophosphatasia"
},
{
"code": "247685",
"display": "Odontohypophosphatasia"
},
{
"code": "247691",
"display": "Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations"
},
{
"code": "247698",
"display": "Multiple endocrine neoplasia type 2A"
},
{
"code": "247709",
"display": "Multiple endocrine neoplasia type 2B"
},
{
"code": "247718",
"display": "Inflammatory myopathy with abundant macrophages"
},
{
"code": "247724",
"display": "Idiopathic eosinophilic myositis"
},
{
"code": "247762",
"display": "Lipoblastoma"
},
{
"code": "247768",
"display": "Müllerian aplasia and hyperandrogenism"
},
{
"code": "247775",
"display": "Mayer-Rokitansky-Küster-Hauser syndrome type 1"
},
{
"code": "247790",
"display": "FTH1-related iron overload"
},
{
"code": "247794",
"display": "Juvenile cataract-microcornea-renal glucosuria syndrome"
},
{
"code": "247798",
"display": "MUTYH-related attenuated familial adenomatous polyposis"
},
{
"code": "247806",
"display": "APC-related attenuated familial adenomatous polyposis"
},
{
"code": "247815",
"display": "Autosomal recessive ataxia due to PEX10 deficiency"
},
{
"code": "247820",
"display": "Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome"
},
{
"code": "247827",
"display": "Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome"
},
{
"code": "247834",
"display": "Occult macular dystrophy"
},
{
"code": "247868",
"display": "NLRP12-associated hereditary periodic fever syndrome"
},
{
"code": "248111",
"display": "Juvenile Huntington disease"
},
{
"code": "248340",
"display": "Isolated delta-storage pool disease"
},
{
"code": "248408",
"display": "Familial hypodysfibrinogenemia"
},
{
"code": "250831",
"display": "Logopenic progressive aphasia"
},
{
"code": "250923",
"display": "Isolated aniridia"
},
{
"code": "250932",
"display": "Autosomal dominant optic atrophy and peripheral neuropathy"
},
{
"code": "250972",
"display": "Polymicrogyria with optic nerve hypoplasia"
},
{
"code": "250977",
"display": "AICA-ribosiduria"
},
{
"code": "250984",
"display": "Autosomal recessive Stickler syndrome"
},
{
"code": "250989",
"display": "1q21.1 microdeletion syndrome"
},
{
"code": "250994",
"display": "1q21.1 microduplication syndrome"
},
{
"code": "250999",
"display": "1q41q42 microdeletion syndrome"
},
{
"code": "251004",
"display": "Paternal uniparental disomy of chromosome 1"
},
{
"code": "251009",
"display": "Maternal uniparental disomy of chromosome 1"
},
{
"code": "251014",
"display": "2q31.1 microdeletion syndrome"
},
{
"code": "251019",
"display": "2q32q33 microdeletion syndrome"
},
{
"code": "251028",
"display": "SATB2-associated syndrome due to a chromosomal rearrangement"
},
{
"code": "251038",
"display": "3q29 microduplication syndrome"
},
{
"code": "251043",
"display": "Ring chromosome 5 syndrome"
},
{
"code": "251046",
"display": "6p22 microdeletion syndrome"
},
{
"code": "251056",
"display": "6q25.2q25.3 microdeletion syndrome"
},
{
"code": "251061",
"display": "7q31 microdeletion syndrome"
},
{
"code": "251066",
"display": "8p11.2 deletion syndrome"
},
{
"code": "251071",
"display": "8p23.1 microdeletion syndrome"
},
{
"code": "251076",
"display": "8p23.1 duplication syndrome"
},
{
"code": "251262",
"display": "Familial osteochondritis dissecans"
},
{
"code": "251274",
"display": "Familial hyperaldosteronism type III"
},
{
"code": "251279",
"display": "Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome"
},
{
"code": "251282",
"display": "Autosomal dominant spastic ataxia type 1"
},
{
"code": "251287",
"display": "Benign concentric annular macular dystrophy"
},
{
"code": "251290",
"display": "Parietal foramina with clavicular hypoplasia"
},
{
"code": "251295",
"display": "Pigmented paravenous retinochoroidal atrophy"
},
{
"code": "251304",
"display": "Infantile onset panniculitis with uveitis and systemic granulomatosis"
},
{
"code": "251307",
"display": "Idiopathic recurrent pericarditis"
},
{
"code": "251325",
"display": "Drug-induced vasculitis"
},
{
"code": "251328",
"display": "Unclassified vasculitis"
},
{
"code": "251332",
"display": "Unexplained long-lasting fever/inflammatory syndrome"
},
{
"code": "251347",
"display": "Ataxia-telangiectasia-like disorder"
},
{
"code": "251359",
"display": "Sickle cell-beta-thalassemia disease syndrome"
},
{
"code": "251365",
"display": "Sickle cell-hemoglobin C disease syndrome"
},
{
"code": "251370",
"display": "Sickle cell-hemoglobin D disease syndrome"
},
{
"code": "251375",
"display": "Sickle cell-hemoglobin E disease syndrome"
},
{
"code": "251380",
"display": "Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome"
},
{
"code": "251383",
"display": "CK syndrome"
},
{
"code": "251393",
"display": "Localized junctional epidermolysis bullosa"
},
{
"code": "251510",
"display": "46,XY partial gonadal dysgenesis"
},
{
"code": "251515",
"display": "Distal arthrogryposis type 10"
},
{
"code": "251523",
"display": "Hyperzincemia and hypercalprotectinemia"
},
{
"code": "251576",
"display": "Gliosarcoma"
},
{
"code": "251579",
"display": "Giant cell glioblastoma"
},
{
"code": "251582",
"display": "Gliomatosis cerebri"
},
{
"code": "251589",
"display": "Anaplastic astrocytoma"
},
{
"code": "251595",
"display": "Diffuse astrocytoma"
},
{
"code": "251598",
"display": "Protoplasmic astrocytoma"
},
{
"code": "251601",
"display": "Fibrillary astrocytoma"
},
{
"code": "251604",
"display": "Gemistocytic astrocytoma"
},
{
"code": "251607",
"display": "Pleomorphic xanthoastrocytoma"
},
{
"code": "251612",
"display": "Pilocytic astrocytoma"
},
{
"code": "251615",
"display": "Pilomyxoid astrocytoma"
},
{
"code": "251618",
"display": "Subependymal giant cell astrocytoma"
},
{
"code": "251623",
"display": "Pituicytoma"
},
{
"code": "251627",
"display": "Oligodendroglioma"
},
{
"code": "251630",
"display": "Anaplastic oligodendroglioma"
},
{
"code": "251636",
"display": "Ependymoma"
},
{
"code": "251639",
"display": "Subependymoma"
},
{
"code": "251643",
"display": "Myxopapillary ependymoma"
},
{
"code": "251646",
"display": "Anaplastic ependymoma"
},
{
"code": "251656",
"display": "Oligoastrocytoma"
},
{
"code": "251663",
"display": "Anaplastic oligoastrocytoma"
},
{
"code": "251671",
"display": "Angiocentric glioma"
},
{
"code": "251674",
"display": "Chordoid glioma"
},
{
"code": "251679",
"display": "Astroblastoma"
},
{
"code": "251855",
"display": "Anaplastic/large cell medulloblastoma"
},
{
"code": "251858",
"display": "Medulloblastoma with extensive nodularity"
},
{
"code": "251863",
"display": "Desmoplastic/nodular medulloblastoma"
},
{
"code": "251867",
"display": "Classic medulloblastoma"
},
{
"code": "251877",
"display": "Ganglioneuroblastoma"
},
{
"code": "251899",
"display": "Choroid plexus carcinoma"
},
{
"code": "251902",
"display": "Atypical papilloma of choroid plexus"
},
{
"code": "251909",
"display": "Pineoblastoma"
},
{
"code": "251912",
"display": "Pineocytoma"
},
{
"code": "251915",
"display": "Papillary tumor of the pineal region"
},
{
"code": "251919",
"display": "Pineal parenchymal tumor of intermediate differentiation"
},
{
"code": "251927",
"display": "Extraventricular neurocytoma"
},
{
"code": "251931",
"display": "Cerebellar liponeurocytoma"
},
{
"code": "251937",
"display": "Gangliocytoma"
},
{
"code": "251940",
"display": "Desmoplastic infantile astrocytoma/ganglioglioma"
},
{
"code": "251946",
"display": "Dysembryoplastic neuroepithelial tumor"
},
{
"code": "251949",
"display": "Ganglioglioma"
},
{
"code": "251957",
"display": "Anaplastic ganglioglioma"
},
{
"code": "251962",
"display": "Papillary glioneuronal tumor"
},
{
"code": "251975",
"display": "Rosette-forming glioneuronal tumor"
},
{
"code": "251992",
"display": "Ganglioneuroma"
},
{
"code": "252006",
"display": "Yolk sac tumor of central nervous system"
},
{
"code": "252015",
"display": "Choriocarcinoma of the central nervous system"
},
{
"code": "252018",
"display": "Teratoma of the central nervous system"
},
{
"code": "252021",
"display": "Mixed germ cell tumor of central nervous system"
},
{
"code": "252031",
"display": "Diffuse leptomeningeal melanocytosis"
},
{
"code": "252046",
"display": "Meningeal melanocytoma"
},
{
"code": "252050",
"display": "Primary melanoma of the central nervous system"
},
{
"code": "252054",
"display": "Hemangioblastoma"
},
{
"code": "252128",
"display": "Malignant peripheral nerve sheath tumor with perineurial differentiation"
},
{
"code": "252164",
"display": "Benign schwannoma"
},
{
"code": "252175",
"display": "Vestibular schwannoma"
},
{
"code": "252183",
"display": "Neurofibroma"
},
{
"code": "252202",
"display": "Constitutional mismatch repair deficiency syndrome"
},
{
"code": "252206",
"display": "Melanoma and neural system tumor syndrome"
},
{
"code": "252212",
"display": "Malignant triton tumor"
},
{
"code": "254334",
"display": "Autosomal recessive intermediate Charcot-Marie-Tooth disease type B"
},
{
"code": "254343",
"display": "Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome"
},
{
"code": "254346",
"display": "19p13.12 microdeletion syndrome"
},
{
"code": "254351",
"display": "Distal 7q11.23 microdeletion syndrome"
},
{
"code": "254361",
"display": "Plectin-related limb-girdle muscular dystrophy R17"
},
{
"code": "254379",
"display": "Linear lichen planus"
},
{
"code": "254395",
"display": "Actinic lichen planus"
},
{
"code": "254411",
"display": "Annular atrophic lichen planus"
},
{
"code": "254424",
"display": "Annular lichen planus"
},
{
"code": "254449",
"display": "Atrophic lichen planus"
},
{
"code": "254463",
"display": "Lichen planus pigmentosus"
},
{
"code": "254478",
"display": "Lichen planus pemphigoides"
},
{
"code": "254492",
"display": "Frontal fibrosing alopecia"
},
{
"code": "254504",
"display": "Inhalational botulism"
},
{
"code": "254509",
"display": "Iatrogenic botulism"
},
{
"code": "254516",
"display": "Temple syndrome"
},
{
"code": "254519",
"display": "Kagami-Ogata syndrome"
},
{
"code": "254525",
"display": "Temple syndrome due to paternal 14q32.2 microdeletion"
},
{
"code": "254528",
"display": "Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion"
},
{
"code": "254531",
"display": "Temple syndrome due to paternal 14q32.2 hypomethylation"
},
{
"code": "254534",
"display": "Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation"
},
{
"code": "254688",
"display": "Complete hydatidiform mole"
},
{
"code": "254693",
"display": "Partial hydatidiform mole"
},
{
"code": "254698",
"display": "Epithelioid trophoblastic tumor"
},
{
"code": "254704",
"display": "Genetic hyperferritinemia without iron overload"
},
{
"code": "254851",
"display": "Mitochondrial DNA-related dystonia"
},
{
"code": "254854",
"display": "Pure mitochondrial myopathy"
},
{
"code": "254857",
"display": "Lethal infantile mitochondrial myopathy"
},
{
"code": "254864",
"display": "Mitochondrial myopathy with reversible cytochrome C oxidase deficiency"
},
{
"code": "254875",
"display": "Mitochondrial DNA depletion syndrome, myopathic form"
},
{
"code": "254881",
"display": "Spinocerebellar ataxia with epilepsy"
},
{
"code": "254886",
"display": "Autosomal recessive progressive external ophthalmoplegia"
},
{
"code": "254892",
"display": "Autosomal dominant progressive external ophthalmoplegia"
},
{
"code": "254898",
"display": "Deafness-encephaloneuropathy-obesity-valvulopathy syndrome"
},
{
"code": "254902",
"display": "Renal tubulopathy-encephalopathy-liver failure syndrome"
},
{
"code": "254905",
"display": "Isolated cytochrome C oxidase deficiency"
},
{
"code": "254913",
"display": "Isolated ATP synthase deficiency"
},
{
"code": "254920",
"display": "Combined oxidative phosphorylation defect type 2"
},
{
"code": "254925",
"display": "Combined oxidative phosphorylation defect type 4"
},
{
"code": "254930",
"display": "Combined oxidative phosphorylation defect type 7"
},
{
"code": "255132",
"display": "Adult-onset autosomal recessive sideroblastic anemia"
},
{
"code": "255138",
"display": "Pyruvate dehydrogenase E1-beta deficiency"
},
{
"code": "255182",
"display": "Pyruvate dehydrogenase E3-binding protein deficiency"
},
{
"code": "255210",
"display": "Mitochondrial DNA-associated Leigh syndrome"
},
{
"code": "255229",
"display": "Navajo neurohepatopathy"
},
{
"code": "255235",
"display": "Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy"
},
{
"code": "260305",
"display": "Autosomal recessive sideroblastic anemia"
},
{
"code": "261102",
"display": "Distal 7q11.23 microduplication syndrome"
},
{
"code": "261112",
"display": "Monosomy 9p"
},
{
"code": "261120",
"display": "14q11.2 microdeletion syndrome"
},
{
"code": "261144",
"display": "FOXG1 syndrome due to 14q12 microdeletion"
},
{
"code": "261183",
"display": "15q11.2 microdeletion syndrome"
},
{
"code": "261190",
"display": "Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion"
},
{
"code": "261197",
"display": "Proximal 16p11.2 microdeletion syndrome"
},
{
"code": "261204",
"display": "16p11.2p12.2 microduplication syndrome"
},
{
"code": "261211",
"display": "16p11.2p12.2 microdeletion syndrome"
},
{
"code": "261222",
"display": "Distal 16p11.2 microdeletion syndrome"
},
{
"code": "261229",
"display": "14q11.2 microduplication syndrome"
},
{
"code": "261236",
"display": "16p13.11 microdeletion syndrome"
},
{
"code": "261243",
"display": "16p13.11 microduplication syndrome"
},
{
"code": "261250",
"display": "16q24.3 microdeletion syndrome"
},
{
"code": "261257",
"display": "Distal 17p13.3 microdeletion syndrome"
},
{
"code": "261265",
"display": "17q12 microdeletion syndrome"
},
{
"code": "261272",
"display": "17q12 microduplication syndrome"
},
{
"code": "261279",
"display": "17q23.1q23.2 microdeletion syndrome"
},
{
"code": "261290",
"display": "Trisomy 17p"
},
{
"code": "261295",
"display": "20p12.3 microdeletion syndrome"
},
{
"code": "261304",
"display": "Paternal 20q13.2q13.3 microdeletion syndrome"
},
{
"code": "261311",
"display": "20q13.33 microdeletion syndrome"
},
{
"code": "261318",
"display": "Trisomy 20p"
},
{
"code": "261323",
"display": "21q22.11q22.12 microdeletion syndrome"
},
{
"code": "261330",
"display": "Distal 22q11.2 microdeletion syndrome"
},
{
"code": "261337",
"display": "Distal 22q11.2 microduplication syndrome"
},
{
"code": "261344",
"display": "Trisomy 1q"
},
{
"code": "261349",
"display": "2p15p16.1 microdeletion syndrome"
},
{
"code": "261476",
"display": "Xp21 deletion syndrome"
},
{
"code": "261483",
"display": "Xq27.3q28 duplication syndrome"
},
{
"code": "261494",
"display": "Kleefstra syndrome"
},
{
"code": "261501",
"display": "Atypical Norrie disease due to Xp11.3 microdeletion"
},
{
"code": "261519",
"display": "Maternal uniparental disomy of chromosome X"
},
{
"code": "261524",
"display": "Paternal uniparental disomy of chromosome X"
},
{
"code": "261529",
"display": "Ring chromosome Y syndrome"
},
{
"code": "261534",
"display": "49,XXXYY syndrome"
},
{
"code": "261537",
"display": "Mowat-Wilson syndrome due to monosomy 2q22"
},
{
"code": "261552",
"display": "Mowat-Wilson syndrome due to a ZEB2 point mutation"
},
{
"code": "261584",
"display": "Familial adenomatous polyposis due to 5q22.2 microdeletion"
},
{
"code": "261600",
"display": "Alagille syndrome due to 20p12 microdeletion"
},
{
"code": "261619",
"display": "Alagille syndrome due to a JAG1 point mutation"
},
{
"code": "261629",
"display": "Alagille syndrome due to a NOTCH2 point mutation"
},
{
"code": "261638",
"display": "Okihiro syndrome due to 20q13 microdeletion"
},
{
"code": "261647",
"display": "Okihiro syndrome due to a point mutation"
},
{
"code": "261652",
"display": "Kleefstra syndrome due to a point mutation"
},
{
"code": "263297",
"display": "Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency"
},
{
"code": "263310",
"display": "Thymoma type A"
},
{
"code": "263317",
"display": "Thymoma type B"
},
{
"code": "263324",
"display": "Thymoma type AB"
},
{
"code": "263331",
"display": "Well-differentiated thymic neuroendocrine carcinoma"
},
{
"code": "263335",
"display": "Moderately-differentiated thymic neuroendocrine carcinoma"
},
{
"code": "263339",
"display": "Poorly differentiated thymic neuroendocrine carcinoma"
},
{
"code": "263347",
"display": "MRCS syndrome"
},
{
"code": "263352",
"display": "Postcardiotomy right ventricular failure"
},
{
"code": "263410",
"display": "Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome"
},
{
"code": "263413",
"display": "Angiosarcoma"
},
{
"code": "263425",
"display": "Nevus of Ota"
},
{
"code": "263432",
"display": "Nevus of Ito"
},
{
"code": "263435",
"display": "Congenital smooth muscle hamartoma"
},
{
"code": "263455",
"display": "Congenital hyperinsulinism due to HNF4A deficiency"
},
{
"code": "263458",
"display": "Hyperinsulinism due to INSR deficiency"
},
{
"code": "263463",
"display": "CHST3-related skeletal dysplasia"
},
{
"code": "263479",
"display": "Fuchs heterochromic iridocyclitis"
},
{
"code": "263482",
"display": "Spondyloepimetaphyseal dysplasia, Maroteaux type"
},
{
"code": "263487",
"display": "COG5-CDG"
},
{
"code": "263494",
"display": "DPM3-CDG"
},
{
"code": "263501",
"display": "COG4-CDG"
},
{
"code": "263508",
"display": "COG1-CDG"
},
{
"code": "263516",
"display": "Progressive myoclonic epilepsy type 3"
},
{
"code": "263524",
"display": "Acute necrotizing encephalopathy of childhood"
},
{
"code": "263534",
"display": "Acral peeling skin syndrome"
},
{
"code": "263543",
"display": "Generalized peeling skin syndrome"
},
{
"code": "263548",
"display": "Peeling skin syndrome type A"
},
{
"code": "263553",
"display": "Peeling skin syndrome type B"
},
{
"code": "263662",
"display": "Familial multiple meningioma"
},
{
"code": "263665",
"display": "NK-cell enteropathy"
},
{
"code": "264200",
"display": "14q22q23 microdeletion syndrome"
},
{
"code": "264450",
"display": "Trisomy 8p"
},
{
"code": "264580",
"display": "Glycogen storage disease due to liver phosphorylase kinase deficiency"
},
{
"code": "264675",
"display": "Hereditary pulmonary alveolar proteinosis"
},
{
"code": "264688",
"display": "Congenital chylothorax"
},
{
"code": "264691",
"display": "Isolated pulmonary capillaritis"
},
{
"code": "264978",
"display": "Drug or radiation exposure-related interstitial lung disease"
},
{
"code": "268114",
"display": "RAS-associated autoimmune leukoproliferative disease"
},
{
"code": "268129",
"display": "Spheroid body myopathy"
},
{
"code": "268139",
"display": "Intraocular medulloepithelioma"
},
{
"code": "268145",
"display": "Classic maple syrup urine disease"
},
{
"code": "268162",
"display": "Intermediate maple syrup urine disease"
},
{
"code": "268173",
"display": "Intermittent maple syrup urine disease"
},
{
"code": "268184",
"display": "Thiamine-responsive maple syrup urine disease"
},
{
"code": "268249",
"display": "Mycophenolate mofetil embryopathy"
},
{
"code": "268261",
"display": "DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion"
},
{
"code": "268316",
"display": "Complication in hemodialysis"
},
{
"code": "268322",
"display": "Hereditary thrombocytopenia with normal platelets"
},
{
"code": "268363",
"display": "Open iniencephaly"
},
{
"code": "268366",
"display": "Closed iniencephaly"
},
{
"code": "268810",
"display": "Isolated posterior meningocele"
},
{
"code": "268820",
"display": "Cranial meningocele"
},
{
"code": "268823",
"display": "Occipital encephalocele"
},
{
"code": "268826",
"display": "Parietal encephalocele"
},
{
"code": "268829",
"display": "Basal encephalocele"
},
{
"code": "268861",
"display": "Primary tethered cord syndrome"
},
{
"code": "268865",
"display": "Neurenteric cyst"
},
{
"code": "268868",
"display": "Isolated amyelia"
},
{
"code": "268882",
"display": "Arnold-Chiari malformation type I"
},
{
"code": "268920",
"display": "Isolated megalencephaly"
},
{
"code": "268936",
"display": "Isolated arhinencephaly"
},
{
"code": "268940",
"display": "Bilateral polymicrogyria"
},
{
"code": "268943",
"display": "Unilateral polymicrogyria"
},
{
"code": "268947",
"display": "Unilateral focal polymicrogyria"
},
{
"code": "268961",
"display": "Isolated focal cortical dysplasia type I"
},
{
"code": "268973",
"display": "Isolated focal cortical dysplasia type Ia"
},
{
"code": "268980",
"display": "Isolated focal cortical dysplasia type Ib"
},
{
"code": "268987",
"display": "Isolated focal cortical dysplasia type Ic"
},
{
"code": "268994",
"display": "Isolated focal cortical dysplasia type II"
},
{
"code": "269001",
"display": "Isolated focal cortical dysplasia type IIa"
},
{
"code": "269008",
"display": "Isolated focal cortical dysplasia type IIb"
},
{
"code": "269197",
"display": "Glioependymal/ependymal cyst"
},
{
"code": "269203",
"display": "Isolated cerebellar vermis agenesis"
},
{
"code": "269206",
"display": "Isolated total cerebellar vermis agenesis"
},
{
"code": "269209",
"display": "Isolated partial cerebellar vermis agenesis"
},
{
"code": "269212",
"display": "Isolated Dandy-Walker malformation with hydrocephalus"
},
{
"code": "269215",
"display": "Isolated Dandy-Walker malformation without hydrocephalus"
},
{
"code": "269218",
"display": "Isolated unilateral hemispheric cerebellar hypoplasia"
},
{
"code": "269221",
"display": "Isolated bilateral hemispheric cerebellar hypoplasia"
},
{
"code": "269229",
"display": "Pontine tegmental cap dysplasia"
},
{
"code": "269505",
"display": "Congenital communicating hydrocephalus"
},
{
"code": "269510",
"display": "Congenital non-communicating hydrocephalus"
},
{
"code": "271861",
"display": "Hereditary ATTR amyloidosis"
},
{
"code": "275517",
"display": "Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency"
},
{
"code": "275523",
"display": "Dianzani autoimmune lymphoproliferative disease"
},
{
"code": "275543",
"display": "L1 syndrome"
},
{
"code": "275555",
"display": "Preeclampsia"
},
{
"code": "275761",
"display": "Lysosomal acid lipase deficiency"
},
{
"code": "275766",
"display": "Idiopathic pulmonary arterial hypertension"
},
{
"code": "275777",
"display": "Heritable pulmonary arterial hypertension"
},
{
"code": "275864",
"display": "Behavioral variant of frontotemporal dementia"
},
{
"code": "275872",
"display": "Frontotemporal dementia with motor neuron disease"
},
{
"code": "275944",
"display": "Hemolytic disease of the newborn with Kell alloimmunization"
},
{
"code": "276066",
"display": "Bile acid CoA ligase deficiency and defective amidation"
},
{
"code": "276145",
"display": "Malignant epithelial tumor of salivary glands"
},
{
"code": "276148",
"display": "Benign epithelial tumor of salivary glands"
},
{
"code": "276152",
"display": "Multiple endocrine neoplasia type 4"
},
{
"code": "276174",
"display": "Idiopathic recurrent stupor"
},
{
"code": "276183",
"display": "Spinocerebellar ataxia type 32"
},
{
"code": "276193",
"display": "Spinocerebellar ataxia type 35"
},
{
"code": "276198",
"display": "Spinocerebellar ataxia type 36"
},
{
"code": "276212",
"display": "Mucopolysaccharidosis type 6, rapidly progressing"
},
{
"code": "276223",
"display": "Mucopolysaccharidosis type 6, slowly progressing"
},
{
"code": "276234",
"display": "Non-syndromic male infertility due to sperm motility disorder"
},
{
"code": "276238",
"display": "Machado-Joseph disease type 1"
},
{
"code": "276241",
"display": "Machado-Joseph disease type 2"
},
{
"code": "276244",
"display": "Machado-Joseph disease type 3"
},
{
"code": "276280",
"display": "Hemihyperplasia-multiple lipomatosis syndrome"
},
{
"code": "276399",
"display": "Familial multinodular goiter"
},
{
"code": "276405",
"display": "Hyperbiliverdinemia"
},
{
"code": "276413",
"display": "10q22.3q23.3 microdeletion syndrome"
},
{
"code": "276422",
"display": "10q22.3q23.3 microduplication syndrome"
},
{
"code": "276429",
"display": "Hypnic headache"
},
{
"code": "276432",
"display": "Ogden syndrome"
},
{
"code": "276435",
"display": "Lower motor neuron syndrome with late-adult onset"
},
{
"code": "276556",
"display": "Hyperinsulinism due to UCP2 deficiency"
},
{
"code": "276575",
"display": "Autosomal dominant hyperinsulinism due to SUR1 deficiency"
},
{
"code": "276580",
"display": "Autosomal dominant hyperinsulinism due to Kir6.2 deficiency"
},
{
"code": "276598",
"display": "Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency"
},
{
"code": "276603",
"display": "Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency"
},
{
"code": "276608",
"display": "Non-insulinoma pancreatogenous hypoglycemia syndrome"
},
{
"code": "276621",
"display": "Sporadic pheochromocytoma/secreting paraganglioma"
},
{
"code": "276630",
"display": "Symptomatic form of Coffin-Lowry syndrome in female carriers"
},
{
"code": "279882",
"display": "Spasmus nutans"
},
{
"code": "279888",
"display": "Acute endophthalmitis"
},
{
"code": "279891",
"display": "Chronic endophthalmitis"
},
{
"code": "279894",
"display": "Toxic maculopathy due to antimalarial drugs"
},
{
"code": "279897",
"display": "Primary oculocerebral lymphoma"
},
{
"code": "279904",
"display": "Primary intraocular lymphoma"
},
{
"code": "279914",
"display": "Intermediate uveitis"
},
{
"code": "279919",
"display": "Infectious posterior uveitis"
},
{
"code": "279922",
"display": "Infectious anterior uveitis"
},
{
"code": "279925",
"display": "Infectious panuveitis"
},
{
"code": "279928",
"display": "Paraneoplastic uveitis"
},
{
"code": "279934",
"display": "Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency"
},
{
"code": "279943",
"display": "Hereditary neutrophilia"
},
{
"code": "279947",
"display": "Postorgasmic illness syndrome"
},
{
"code": "280062",
"display": "Calciphylaxis"
},
{
"code": "280065",
"display": "Calciphylaxis cutis"
},
{
"code": "280068",
"display": "Visceral calciphylaxis"
},
{
"code": "280071",
"display": "ALG11-CDG"
},
{
"code": "280133",
"display": "Complement component 3 deficiency"
},
{
"code": "280142",
"display": "Severe combined immunodeficiency due to LCK deficiency"
},
{
"code": "280183",
"display": "Methylmalonic aciduria due to transcobalamin receptor defect"
},
{
"code": "280195",
"display": "Septopreoptic holoprosencephaly"
},
{
"code": "280200",
"display": "Microform holoprosencephaly"
},
{
"code": "280205",
"display": "Laryngotracheoesophageal cleft type 0"
},
{
"code": "280210",
"display": "Pelizaeus-Merzbacher disease, connatal form"
},
{
"code": "280219",
"display": "Pelizaeus-Merzbacher disease, classic form"
},
{
"code": "280224",
"display": "Pelizaeus-Merzbacher disease, transitional form"
},
{
"code": "280229",
"display": "Pelizaeus-Merzbacher disease in female carriers"
},
{
"code": "280234",
"display": "Null syndrome"
},
{
"code": "280270",
"display": "Pelizaeus-Merzbacher-like disease"
},
{
"code": "280282",
"display": "Pelizaeus-Merzbacher-like disease due to GJC2 mutation"
},
{
"code": "280288",
"display": "Pelizaeus-Merzbacher-like disease due to HSPD1 mutation"
},
{
"code": "280293",
"display": "Pelizaeus-Merzbacher-like disease due to AIMP1 mutation"
},
{
"code": "280302",
"display": "Autoimmune pancreatitis type 1"
},
{
"code": "280315",
"display": "Autoimmune pancreatitis type 2"
},
{
"code": "280325",
"display": "Distal deletion 12p"
},
{
"code": "280333",
"display": "Alpha-dystroglycan-related limb-girdle muscular dystrophy R16"
},
{
"code": "280356",
"display": "PLIN1-related familial partial lipodystrophy"
},
{
"code": "280365",
"display": "Autosomal semi-dominant severe lipodystrophic laminopathy"
},
{
"code": "280379",
"display": "Erythropoietic uroporphyria associated with myeloid malignancy"
},
{
"code": "280384",
"display": "Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome"
},
{
"code": "280397",
"display": "Familial Alzheimer-like prion disease"
},
{
"code": "280403",
"display": "Familial omphalocele syndrome with facial dysmorphism"
},
{
"code": "280406",
"display": "Familial steroid-resistant nephrotic syndrome with sensorineural deafness"
},
{
"code": "280553",
"display": "Fatal infantile hypertonic myofibrillar myopathy"
},
{
"code": "280558",
"display": "Warsaw breakage syndrome"
},
{
"code": "280576",
"display": "Nestor-Guillermo progeria syndrome"
},
{
"code": "280586",
"display": "Chondrodysplasia with joint dislocations, gPAPP type"
},
{
"code": "280598",
"display": "Hereditary sensorimotor neuropathy with hyperelastic skin"
},
{
"code": "280615",
"display": "Hemoglobinopathy Toms River"
},
{
"code": "280620",
"display": "Progressive myoclonic epilepsy type 6"
},
{
"code": "280628",
"display": "Familial progressive hyper- and hypopigmentation"
},
{
"code": "280633",
"display": "Multiple congenital anomalies-hypotonia-seizures syndrome"
},
{
"code": "280640",
"display": "Occipital pachygyria and polymicrogyria"
},
{
"code": "280654",
"display": "Autosomal recessive nail dysplasia"
},
{
"code": "280671",
"display": "Megaconial congenital muscular dystrophy"
},
{
"code": "280679",
"display": "Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome"
},
{
"code": "280763",
"display": "Severe intellectual disability and progressive spastic paraplegia"
},
{
"code": "280774",
"display": "Generalized essential telangiectasia"
},
{
"code": "280779",
"display": "Cutaneous collagenous vasculopathy"
},
{
"code": "280785",
"display": "Bullous diffuse cutaneous mastocytosis"
},
{
"code": "280794",
"display": "Pseudoxanthomatous diffuse cutaneous mastocytosis"
},
{
"code": "280802",
"display": "Intralobar congenital pulmonary sequestration"
},
{
"code": "280811",
"display": "Extralobar congenital pulmonary sequestration"
},
{
"code": "280821",
"display": "Communicating congenital bronchopulmonary-foregut malformation"
},
{
"code": "280827",
"display": "Congenital pulmonary airway malformation type 0"
},
{
"code": "280832",
"display": "Congenital pulmonary airway malformation type 1"
},
{
"code": "280840",
"display": "Congenital pulmonary airway malformation type 2"
},
{
"code": "280847",
"display": "Congenital pulmonary airway malformation type 3"
},
{
"code": "280854",
"display": "Congenital pulmonary airway malformation type 4"
},
{
"code": "280917",
"display": "Idiopathic posterior uveitis"
},
{
"code": "280921",
"display": "Idiopathic panuveitis"
},
{
"code": "281090",
"display": "Syndromic recessive X-linked ichthyosis"
},
{
"code": "281122",
"display": "Self-improving collodion baby"
},
{
"code": "281127",
"display": "Acral self-healing collodion baby"
},
{
"code": "281139",
"display": "Annular epidermolytic ichthyosis"
},
{
"code": "281190",
"display": "Congenital reticular ichthyosiform erythroderma"
},
{
"code": "281201",
"display": "Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome"
},
{
"code": "282166",
"display": "Inherited Creutzfeldt-Jakob disease"
},
{
"code": "284139",
"display": "Larsen-like syndrome, B3GAT3 type"
},
{
"code": "284149",
"display": "Craniosynostosis-dental anomalies"
},
{
"code": "284160",
"display": "8q21.11 microdeletion syndrome"
},
{
"code": "284169",
"display": "Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion"
},
{
"code": "284180",
"display": "Xp22.13p22.2 duplication syndrome"
},
{
"code": "284227",
"display": "TEMPI syndrome"
},
{
"code": "284232",
"display": "Autosomal dominant Charcot-Marie-Tooth disease type 2O"
},
{
"code": "284247",
"display": "Familial retinal arterial macroaneurysm"
},
{
"code": "284271",
"display": "Autosomal recessive cerebellar ataxia-psychomotor delay syndrome"
},
{
"code": "284282",
"display": "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency"
},
{
"code": "284289",
"display": "Adult-onset autosomal recessive cerebellar ataxia"
},
{
"code": "284324",
"display": "Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia"
},
{
"code": "284332",
"display": "Infantile-onset autosomal recessive nonprogressive cerebellar ataxia"
},
{
"code": "284339",
"display": "Pontocerebellar hypoplasia type 7"
},
{
"code": "284343",
"display": "DICER1 tumor-predisposition syndrome"
},
{
"code": "284362",
"display": "Fetal lung interstitial tumor"
},
{
"code": "284388",
"display": "Reversible cerebral vasoconstriction syndrome"
},
{
"code": "284395",
"display": "Well-differentiated fetal adenocarcinoma of the lung"
},
{
"code": "284400",
"display": "Small cell carcinoma of the bladder"
},
{
"code": "284411",
"display": "Glycerol kinase deficiency, juvenile form"
},
{
"code": "284414",
"display": "Glycerol kinase deficiency, adult form"
},
{
"code": "284417",
"display": "Phosphoserine aminotransferase deficiency, infantile/juvenile form"
},
{
"code": "284426",
"display": "Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency"
},
{
"code": "284435",
"display": "Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency"
},
{
"code": "284448",
"display": "CLIPPERS"
},
{
"code": "284454",
"display": "Acute zonal occult outer retinopathy"
},
{
"code": "284460",
"display": "Acute annular outer retinopathy"
},
{
"code": "284963",
"display": "Marfan syndrome type 1"
},
{
"code": "284973",
"display": "Marfan syndrome type 2"
},
{
"code": "284979",
"display": "Neonatal Marfan syndrome"
},
{
"code": "284984",
"display": "Aneurysm-osteoarthritis syndrome"
},
{
"code": "289157",
"display": "Hypocalcemic vitamin D-dependent rickets"
},
{
"code": "289176",
"display": "Autosomal recessive hypophosphatemic rickets"
},
{
"code": "289266",
"display": "Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation"
},
{
"code": "289290",
"display": "Hypermethioninemia encephalopathy due to adenosine kinase deficiency"
},
{
"code": "289307",
"display": "Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency"
},
{
"code": "289326",
"display": "Tropical spastic paraparesis"
},
{
"code": "289347",
"display": "Infective dermatitis associated with HTLV-1"
},
{
"code": "289356",
"display": "Primary non-gestational choriocarcinoma of ovary"
},
{
"code": "289362",
"display": "Non-central nervous system-localized embryonal carcinoma"
},
{
"code": "289365",
"display": "Familial vesicoureteral reflux"
},
{
"code": "289377",
"display": "Early-onset myopathy with fatal cardiomyopathy"
},
{
"code": "289380",
"display": "Myosclerosis"
},
{
"code": "289385",
"display": "Malignancy diagnosed during pregnancy"
},
{
"code": "289390",
"display": "Primary Sjögren syndrome"
},
{
"code": "289465",
"display": "Isolated congenital adermatoglyphia"
},
{
"code": "289478",
"display": "PASH syndrome"
},
{
"code": "289483",
"display": "Intellectual disability-alacrima-achalasia syndrome"
},
{
"code": "289494",
"display": "4H leukodystrophy"
},
{
"code": "289499",
"display": "Congenital cataract microcornea with corneal opacity"
},
{
"code": "289504",
"display": "Combined malonic and methylmalonic acidemia"
},
{
"code": "289513",
"display": "12q15q21.1 microdeletion syndrome"
},
{
"code": "289522",
"display": "Microtriplication 11q24.1"
},
{
"code": "289539",
"display": "BAP1-related tumor predisposition syndrome"
},
{
"code": "289548",
"display": "Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency"
},
{
"code": "289553",
"display": "Dysmorphism-conductive hearing loss-heart defect syndrome"
},
{
"code": "289560",
"display": "Mitochondrial membrane protein-associated neurodegeneration"
},
{
"code": "289586",
"display": "Exfoliative ichthyosis"
},
{
"code": "289596",
"display": "Juvenile nasopharyngeal angiofibroma"
},
{
"code": "289601",
"display": "Hereditary arterial and articular multiple calcification syndrome"
},
{
"code": "289661",
"display": "Epstein-Barr virus-positive diffuse large B-cell lymphoma"
},
{
"code": "289666",
"display": "Plasmablastic lymphoma"
},
{
"code": "289682",
"display": "Lymphoepithelial-like carcinoma"
},
{
"code": "289685",
"display": "Myopericytoma"
},
{
"code": "289846",
"display": "Glutathione synthetase deficiency with 5-oxoprolinuria"
},
{
"code": "289849",
"display": "Glutathione synthetase deficiency without 5-oxoprolinuria"
},
{
"code": "289857",
"display": "Neonatal glycine encephalopathy"
},
{
"code": "289860",
"display": "Infantile glycine encephalopathy"
},
{
"code": "289863",
"display": "Atypical glycine encephalopathy"
},
{
"code": "289877",
"display": "Transient hyperammonemia of the newborn"
},
{
"code": "289891",
"display": "Hypermethioninemia due to glycine N-methyltransferase deficiency"
},
{
"code": "289916",
"display": "Vitamin B12-unresponsive methylmalonic acidemia type mut0"
},
{
"code": "293144",
"display": "Familial clubfoot due to 5q31 microdeletion"
},
{
"code": "293150",
"display": "Familial clubfoot due to PITX1 point mutation"
},
{
"code": "293165",
"display": "Skin fragility-woolly hair-palmoplantar keratoderma syndrome"
},
{
"code": "293168",
"display": "Infantile-onset ascending hereditary spastic paralysis"
},
{
"code": "293173",
"display": "Acute generalized exanthematous pustulosis"
},
{
"code": "293181",
"display": "Malignant migrating focal seizures of infancy"
},
{
"code": "293199",
"display": "Pleomorphic rhabdomyosarcoma"
},
{
"code": "293202",
"display": "Epithelioid sarcoma"
},
{
"code": "293208",
"display": "Celiac artery compression syndrome"
},
{
"code": "293284",
"display": "Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria"
},
{
"code": "293375",
"display": "Grayson-Wilbrandt corneal dystrophy"
},
{
"code": "293381",
"display": "Epithelial recurrent erosion dystrophy"
},
{
"code": "293462",
"display": "Pre-Descemet corneal dystrophy"
},
{
"code": "293603",
"display": "Congenital hereditary endothelial dystrophy type II"
},
{
"code": "293621",
"display": "X-linked endothelial corneal dystrophy"
},
{
"code": "293633",
"display": "PYCR1-related De Barsy syndrome"
},
{
"code": "293707",
"display": "Blepharophimosis-intellectual disability syndrome, MKB type"
},
{
"code": "293725",
"display": "Blepharophimosis-intellectual disability syndrome, Verloes type"
},
{
"code": "293807",
"display": "Ketamine-induced biliary dilatation"
},
{
"code": "293812",
"display": "Fixed drug eruption"
},
{
"code": "293822",
"display": "MITF-related melanoma and renal cell carcinoma predisposition syndrome"
},
{
"code": "293825",
"display": "Congenital dyserythropoietic anemia type IV"
},
{
"code": "293843",
"display": "3MC syndrome"
},
{
"code": "293864",
"display": "Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome"
},
{
"code": "293888",
"display": "Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant"
},
{
"code": "293899",
"display": "Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant"
},
{
"code": "293910",
"display": "Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant"
},
{
"code": "293925",
"display": "Lethal occipital encephalocele-skeletal dysplasia syndrome"
},
{
"code": "293936",
"display": "EDICT syndrome"
},
{
"code": "293939",
"display": "Distal Xq28 microduplication syndrome"
},
{
"code": "293948",
"display": "1p21.3 microdeletion syndrome"
},
{
"code": "293955",
"display": "Childhood encephalopathy due to thiamine pyrophosphokinase deficiency"
},
{
"code": "293958",
"display": "Hypertelorism-preauricular sinus-punctual pits-deafness syndrome"
},
{
"code": "293964",
"display": "Hypoinsulinemic hypoglycemia and body hemihypertrophy"
},
{
"code": "293967",
"display": "Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome"
},
{
"code": "293978",
"display": "Deficiency in anterior pituitary function-variable immunodeficiency syndrome"
},
{
"code": "293987",
"display": "Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome"
},
{
"code": "294016",
"display": "Microcephaly-capillary malformation syndrome"
},
{
"code": "294023",
"display": "Neonatal inflammatory skin and bowel disease"
},
{
"code": "294026",
"display": "Syndactyly-nystagmus syndrome due to 2q31.1 microduplication"
},
{
"code": "294415",
"display": "Renal-hepatic-pancreatic dysplasia"
},
{
"code": "294422",
"display": "Chronic intestinal failure"
},
{
"code": "294967",
"display": "Isolated amelia of upper limb"
},
{
"code": "294969",
"display": "Isolated amelia of lower limb"
},
{
"code": "294971",
"display": "Isolated tetra-amelia"
},
{
"code": "294973",
"display": "Isolated humeral agenesis/hypoplasia"
},
{
"code": "294975",
"display": "Isolated absence of upper arm and forearm with hand present"
},
{
"code": "294977",
"display": "Isolated absence of thigh and lower leg with foot present"
},
{
"code": "294979",
"display": "Isolated absence of both forearm and hand"
},
{
"code": "294981",
"display": "Isolated absence of both lower leg and foot"
},
{
"code": "294983",
"display": "Isolated acheiria"
},
{
"code": "294986",
"display": "Isolated apodia"
},
{
"code": "294988",
"display": "Isolated hypoplasia of thumb"
},
{
"code": "295000",
"display": "Amniotic band syndrome"
},
{
"code": "295002",
"display": "Isolated hyperphalangy"
},
{
"code": "295004",
"display": "Central polydactyly"
},
{
"code": "295012",
"display": "Syndactyly type 6"
},
{
"code": "295014",
"display": "Familial isolated clinodactyly of fingers"
},
{
"code": "295016",
"display": "Camptodactyly of fingers"
},
{
"code": "295018",
"display": "Congenital pseudoarthrosis of the tibia"
},
{
"code": "295020",
"display": "Congenital pseudoarthrosis of the femur"
},
{
"code": "295022",
"display": "Congenital pseudoarthrosis of the fibula"
},
{
"code": "295024",
"display": "Congenital pseudoarthrosis of the radius"
},
{
"code": "295026",
"display": "Congenital pseudoarthrosis of the ulna"
},
{
"code": "295028",
"display": "Isolated tibio-fibular synostosis"
},
{
"code": "295030",
"display": "True congenital shoulder dislocation"
},
{
"code": "295032",
"display": "Isolated congenital radial head dislocation"
},
{
"code": "295034",
"display": "Congenital knee dislocation"
},
{
"code": "295036",
"display": "Congenital patella dislocation"
},
{
"code": "295044",
"display": "Macrodactyly of fingers"
},
{
"code": "295047",
"display": "Macrodactyly of toes"
},
{
"code": "295049",
"display": "Upper limb hypertrophy"
},
{
"code": "295051",
"display": "Lower limb hypertrophy"
},
{
"code": "295187",
"display": "Zygodactyly type 1"
},
{
"code": "295189",
"display": "Zygodactyly type 2"
},
{
"code": "295191",
"display": "Zygodactyly type 3"
},
{
"code": "295193",
"display": "Zygodactyly type 4"
},
{
"code": "295195",
"display": "Synpolydactyly type 1"
},
{
"code": "295197",
"display": "Synpolydactyly type 2"
},
{
"code": "295199",
"display": "Synpolydactyly type 3"
},
{
"code": "295201",
"display": "Congenital vertical talus, unilateral"
},
{
"code": "295203",
"display": "Congenital vertical talus, bilateral"
},
{
"code": "295225",
"display": "Congenital elbow dislocation, unilateral"
},
{
"code": "295227",
"display": "Congenital elbow dislocation, bilateral"
},
{
"code": "295229",
"display": "Congenital genu recurvatum"
},
{
"code": "295232",
"display": "Congenital genu flexum"
},
{
"code": "295239",
"display": "Macrodactyly of fingers, unilateral"
},
{
"code": "295241",
"display": "Macrodactyly of fingers, bilateral"
},
{
"code": "295243",
"display": "Macrodactyly of toes, unilateral"
},
{
"code": "295245",
"display": "Macrodactyly of toes, bilateral"
},
{
"code": "300179",
"display": "Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency"
},
{
"code": "300284",
"display": "Connective tissue disorder due to lysyl hydroxylase-3 deficiency"
},
{
"code": "300293",
"display": "Transient infantile hypertriglyceridemia and hepatosteatosis"
},
{
"code": "300298",
"display": "Severe congenital hypochromic anemia with ringed sideroblasts"
},
{
"code": "300305",
"display": "11p15.4 microduplication syndrome"
},
{
"code": "300313",
"display": "Congenital cataract-hearing loss-severe developmental delay syndrome"
},
{
"code": "300319",
"display": "Charcot-Marie-Tooth disease type 2P"
},
{
"code": "300324",
"display": "Persistent polyclonal B-cell lymphocytosis"
},
{
"code": "300333",
"display": "Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome"
},
{
"code": "300345",
"display": "Autosomal systemic lupus erythematosus"
},
{
"code": "300359",
"display": "PLCG2-associated antibody deficiency and immune dysregulation"
},
{
"code": "300373",
"display": "X-linked acrogigantism"
},
{
"code": "300382",
"display": "Progeroid and marfanoid aspect-lipodystrophy syndrome"
},
{
"code": "300385",
"display": "Pituitary carcinoma"
},
{
"code": "300493",
"display": "Sagliker syndrome"
},
{
"code": "300496",
"display": "Multiple congenital anomalies-hypotonia-seizures syndrome type 2"
},
{
"code": "300501",
"display": "Painful orbital and systemic neurofibromas-marfanoid habitus syndrome"
},
{
"code": "300504",
"display": "Onychocytic matricoma"
},
{
"code": "300512",
"display": "Onychomatricoma"
},
{
"code": "300525",
"display": "Pseudohypoaldosteronism type 2D"
},
{
"code": "300530",
"display": "Pseudohypoaldosteronism type 2E"
},
{
"code": "300536",
"display": "DDOST-CDG"
},
{
"code": "300547",
"display": "Autosomal recessive infantile hypercalcemia"
},
{
"code": "300552",
"display": "Follicular cholangitis and pancreatitis"
},
{
"code": "300557",
"display": "Carcinoma of the ampulla of Vater"
},
{
"code": "300564",
"display": "Combined pulmonary fibrosis-emphysema syndrome"
},
{
"code": "300570",
"display": "Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation"
},
{
"code": "300573",
"display": "Polymicrogyria due to TUBB2B mutation"
},
{
"code": "300576",
"display": "Oligodontia-cancer predisposition syndrome"
},
{
"code": "300605",
"display": "Juvenile amyotrophic lateral sclerosis"
},
{
"code": "300751",
"display": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation"
},
{
"code": "300849",
"display": "Diffuse large B-cell lymphoma of the central nervous system"
},
{
"code": "300857",
"display": "T-cell/histiocyte rich large B cell lymphoma"
},
{
"code": "300865",
"display": "Primary cutaneous anaplastic large cell lymphoma"
},
{
"code": "300869",
"display": "Splenic diffuse red pulp small B-cell lymphoma"
},
{
"code": "300878",
"display": "Hairy cell leukemia variant"
},
{
"code": "300888",
"display": "Diffuse large B-cell lymphoma with chronic inflammation"
},
{
"code": "300895",
"display": "ALK-positive anaplastic large cell lymphoma"
},
{
"code": "300903",
"display": "ALK-negative anaplastic large cell lymphoma"
},
{
"code": "306431",
"display": "Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies"
},
{
"code": "306504",
"display": "Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome"
},
{
"code": "306511",
"display": "Autosomal recessive spastic paraplegia type 48"
},
{
"code": "306516",
"display": "Primary hypomagnesemia with hypercalciuria and nephrocalcinosis"
},
{
"code": "306527",
"display": "Isolated hereditary congenital facial paralysis"
},
{
"code": "306530",
"display": "Congenital hereditary facial paralysis-variable hearing loss syndrome"
},
{
"code": "306542",
"display": "Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome"
},
{
"code": "306547",
"display": "Porencephaly-microcephaly-bilateral congenital cataract syndrome"
},
{
"code": "306550",
"display": "FADD-related immunodeficiency"
},
{
"code": "306553",
"display": "Myospherulosis"
},
{
"code": "306558",
"display": "Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome"
},
{
"code": "306577",
"display": "Hereditary sodium channelopathy-related small fibers neuropathy"
},
{
"code": "306617",
"display": "X-linked complicated spastic paraplegia type 1"
},
{
"code": "306644",
"display": "Complication after organ transplantation"
},
{
"code": "306658",
"display": "Familial normophosphatemic tumoral calcinosis"
},
{
"code": "306661",
"display": "Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome"
},
{
"code": "306669",
"display": "Hemiparkinsonism-hemiatrophy syndrome"
},
{
"code": "306674",
"display": "Kufor-Rakeb syndrome"
},
{
"code": "306682",
"display": "Manganese poisoning"
},
{
"code": "306686",
"display": "Delayed encephalopathy due to carbon monoxide poisoning"
},
{
"code": "306692",
"display": "Cyanide-induced parkinsonism-dystonia"
},
{
"code": "306731",
"display": "Sydenham chorea"
},
{
"code": "306734",
"display": "Primary dystonia, DYT21 type"
},
{
"code": "306741",
"display": "Hemidystonia-hemiatrophy syndrome"
},
{
"code": "306776",
"display": "Sporadic hyperekplexia"
},
{
"code": "307766",
"display": "Curly hair-acral keratoderma-caries syndrome"
},
{
"code": "307936",
"display": "Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome"
},
{
"code": "308013",
"display": "Focal acral hyperkeratosis"
},
{
"code": "308380",
"display": "Methylcobalamin deficiency type cblDv1"
},
{
"code": "308386",
"display": "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A"
},
{
"code": "308393",
"display": "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B"
},
{
"code": "308400",
"display": "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C"
},
{
"code": "308410",
"display": "Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency"
},
{
"code": "308425",
"display": "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency"
},
{
"code": "308442",
"display": "Vitamin B12-responsive methylmalonic acidemia, type cblDv2"
},
{
"code": "308473",
"display": "Erythrocyte galactose epimerase deficiency"
},
{
"code": "308487",
"display": "Generalized galactose epimerase deficiency"
},
{
"code": "308552",
"display": "Glycogen storage disease due to acid maltase deficiency, infantile onset"
},
{
"code": "308621",
"display": "Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form"
},
{
"code": "308638",
"display": "Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form"
},
{
"code": "308655",
"display": "Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form"
},
{
"code": "308670",
"display": "Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form"
},
{
"code": "308684",
"display": "Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form"
},
{
"code": "308698",
"display": "Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form"
},
{
"code": "308712",
"display": "Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form"
},
{
"code": "309015",
"display": "Familial lipoprotein lipase deficiency"
},
{
"code": "309020",
"display": "Familial apolipoprotein C-II deficiency"
},
{
"code": "309025",
"display": "Mevalonate kinase deficiency"
},
{
"code": "309031",
"display": "Pancreatic triacylglycerol lipase deficiency"
},
{
"code": "309108",
"display": "Pancreatic colipase deficiency"
},
{
"code": "309111",
"display": "Combined pancreatic lipase-colipase deficiency"
},
{
"code": "309147",
"display": "Hyper-beta-alaninemia"
},
{
"code": "309155",
"display": "Sandhoff disease, infantile form"
},
{
"code": "309162",
"display": "Sandhoff disease, juvenile form"
},
{
"code": "309169",
"display": "Sandhoff disease, adult form"
},
{
"code": "309178",
"display": "Tay-Sachs disease, infantile form"
},
{
"code": "309185",
"display": "Tay-Sachs disease, juvenile form"
},
{
"code": "309192",
"display": "Tay-Sachs disease, adult form"
},
{
"code": "309246",
"display": "GM2 gangliosidosis, AB variant"
},
{
"code": "309252",
"display": "Atypical Gaucher disease due to saposin C deficiency"
},
{
"code": "309256",
"display": "Metachromatic leukodystrophy, late infantile form"
},
{
"code": "309263",
"display": "Metachromatic leukodystrophy, juvenile form"
},
{
"code": "309271",
"display": "Metachromatic leukodystrophy, adult form"
},
{
"code": "309282",
"display": "Alpha-mannosidosis, infantile form"
},
{
"code": "309288",
"display": "Alpha-mannosidosis, adult form"
},
{
"code": "309297",
"display": "Mucopolysaccharidosis type 4A"
},
{
"code": "309310",
"display": "Mucopolysaccharidosis type 4B"
},
{
"code": "309324",
"display": "Free sialic acid storage disease, infantile form"
},
{
"code": "309331",
"display": "Intermediate severe Salla disease"
},
{
"code": "309334",
"display": "Salla disease"
},
{
"code": "309789",
"display": "Rhizomelic chondrodysplasia punctata type 1"
},
{
"code": "309796",
"display": "Rhizomelic chondrodysplasia punctata type 2"
},
{
"code": "309803",
"display": "Rhizomelic chondrodysplasia punctata type 3"
},
{
"code": "309854",
"display": "Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome"
},
{
"code": "313772",
"display": "Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome"
},
{
"code": "313781",
"display": "20p13 microdeletion syndrome"
},
{
"code": "313795",
"display": "Jawad syndrome"
},
{
"code": "313800",
"display": "Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome"
},
{
"code": "313808",
"display": "Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia"
},
{
"code": "313838",
"display": "Coats plus syndrome"
},
{
"code": "313846",
"display": "Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome"
},
{
"code": "313850",
"display": "Infantile cerebellar-retinal degeneration"
},
{
"code": "313855",
"display": "FGFR2-related bent bone dysplasia"
},
{
"code": "313884",
"display": "12p12.1 microdeletion syndrome"
},
{
"code": "313892",
"display": "Developmental and speech delay due to SOX5 deficiency"
},
{
"code": "313906",
"display": "Congenital pancreatic cyst"
},
{
"code": "313920",
"display": "Epstein-Barr virus-associated gastric carcinoma"
},
{
"code": "313936",
"display": "PENS syndrome"
},
{
"code": "313947",
"display": "2q23.1 microduplication syndrome"
},
{
"code": "314002",
"display": "Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome"
},
{
"code": "314017",
"display": "Idiopathic linear interstitial keratitis"
},
{
"code": "314022",
"display": "Gastric adenocarcinoma and proximal polyposis of the stomach"
},
{
"code": "314029",
"display": "High bone mass osteogenesis imperfecta"
},
{
"code": "314034",
"display": "7p22.1 microduplication syndrome"
},
{
"code": "314041",
"display": "Marfanoid habitus-inguinal hernia-advanced bone age syndrome"
},
{
"code": "314051",
"display": "Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome"
},
{
"code": "314373",
"display": "Chronic infantile diarrhea due to guanylate cyclase 2C overactivity"
},
{
"code": "314376",
"display": "Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency"
},
{
"code": "314381",
"display": "Hereditary sensory and autonomic neuropathy type 6"
},
{
"code": "314389",
"display": "Xq12-q13.3 duplication syndrome"
},
{
"code": "314394",
"display": "Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome"
},
{
"code": "314399",
"display": "Autosomal dominant aplasia and myelodysplasia"
},
{
"code": "314404",
"display": "Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome"
},
{
"code": "314419",
"display": "Ameloblastoma"
},
{
"code": "314422",
"display": "Ameloblastic carcinoma"
},
{
"code": "314432",
"display": "Spigelian hernia-cryptorchidism syndrome"
},
{
"code": "314451",
"display": "Meigs syndrome"
},
{
"code": "314459",
"display": "Pseudo-Meigs syndrome"
},
{
"code": "314466",
"display": "Atypical Meigs syndrome"
},
{
"code": "314473",
"display": "Ovarian fibroma"
},
{
"code": "314478",
"display": "Ovarian fibrothecoma"
},
{
"code": "314485",
"display": "Young adult-onset distal hereditary motor neuropathy"
},
{
"code": "314555",
"display": "Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome"
},
{
"code": "314566",
"display": "Primary progressive apraxia of speech"
},
{
"code": "314572",
"display": "Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome"
},
{
"code": "314575",
"display": "Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome"
},
{
"code": "314585",
"display": "15q overgrowth syndrome"
},
{
"code": "314588",
"display": "Distal triplication 15q"
},
{
"code": "314597",
"display": "Chudley-McCullough syndrome"
},
{
"code": "314603",
"display": "Autosomal recessive spastic ataxia with leukoencephalopathy"
},
{
"code": "314613",
"display": "Growing teratoma syndrome"
},
{
"code": "314621",
"display": "Duplication of the pituitary gland"
},
{
"code": "314629",
"display": "CLN11 disease"
},
{
"code": "314632",
"display": "CLN12 disease"
},
{
"code": "314637",
"display": "Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency"
},
{
"code": "314647",
"display": "Non-progressive cerebellar ataxia with intellectual disability"
},
{
"code": "314652",
"display": "Variant ABeta2M amyloidosis"
},
{
"code": "314655",
"display": "Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion"
},
{
"code": "314662",
"display": "Segmental progressive overgrowth syndrome with fibroadipose hyperplasia"
},
{
"code": "314667",
"display": "TMEM165-CDG"
},
{
"code": "314679",
"display": "Cerebrofacioarticular syndrome"
},
{
"code": "314684",
"display": "Primary bone lymphoma"
},
{
"code": "314689",
"display": "Combined immunodeficiency due to STK4 deficiency"
},
{
"code": "314697",
"display": "Acquired porencephaly"
},
{
"code": "314701",
"display": "Primary systemic amyloidosis"
},
{
"code": "314709",
"display": "Primary localized amyloidosis"
},
{
"code": "314718",
"display": "Lethal arteriopathy syndrome due to fibulin-4 deficiency"
},
{
"code": "314721",
"display": "Atypical dentin dysplasia due to SMOC2 deficiency"
},
{
"code": "314769",
"display": "Somatomammotropinoma"
},
{
"code": "314777",
"display": "Familial isolated pituitary adenoma"
},
{
"code": "314786",
"display": "Silent pituitary adenoma"
},
{
"code": "314790",
"display": "Null pituitary adenoma"
},
{
"code": "314795",
"display": "SHOX-related short stature"
},
{
"code": "314802",
"display": "Short stature due to partial GHR deficiency"
},
{
"code": "314811",
"display": "Short stature due to GHSR deficiency"
},
{
"code": "314889",
"display": "Autosomal dominant proximal renal tubular acidosis"
},
{
"code": "314911",
"display": "Severe Canavan disease"
},
{
"code": "314918",
"display": "Mild Canavan disease"
},
{
"code": "314950",
"display": "Primary hypereosinophilic syndrome"
},
{
"code": "314962",
"display": "Secondary hypereosinophilic syndrome"
},
{
"code": "314970",
"display": "Lymphocytic hypereosinophilic syndrome"
},
{
"code": "314978",
"display": "X-linked non progressive cerebellar ataxia"
},
{
"code": "314993",
"display": "Cataract-congenital heart disease-neural tube defect syndrome"
},
{
"code": "315306",
"display": "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form"
},
{
"code": "315311",
"display": "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form"
},
{
"code": "317425",
"display": "Severe combined immunodeficiency due to DNA-PKcs deficiency"
},
{
"code": "317428",
"display": "Combined immunodeficiency due to ORAI1 deficiency"
},
{
"code": "317430",
"display": "Combined immunodeficiency due to STIM1 deficiency"
},
{
"code": "317473",
"display": "Pancytopenia due to IKZF1 mutations"
},
{
"code": "317476",
"display": "XMEN"
},
{
"code": "319160",
"display": "Congenital myopathy with internal nuclei and atypical cores"
},
{
"code": "319171",
"display": "Distal 17p13.1 microdeletion syndrome"
},
{
"code": "319182",
"display": "Wiedemann-Steiner syndrome"
},
{
"code": "319189",
"display": "Familial cortical myoclonus"
},
{
"code": "319192",
"display": "Diencephalic-mesencephalic junction dysplasia"
},
{
"code": "319195",
"display": "Chondroectodermal dysplasia with night blindness"
},
{
"code": "319199",
"display": "Autosomal recessive spastic paraplegia type 53"
},
{
"code": "319205",
"display": "Bilateral massive adrenal hemorrhage"
},
{
"code": "319213",
"display": "Lujo hemorrhagic fever"
},
{
"code": "319218",
"display": "Ebola hemorrhagic fever"
},
{
"code": "319223",
"display": "Argentine hemorrhagic fever"
},
{
"code": "319229",
"display": "Bolivian hemorrhagic fever"
},
{
"code": "319234",
"display": "Venezuelan hemorrhagic fever"
},
{
"code": "319239",
"display": "Brazilian hemorrhagic fever"
},
{
"code": "319244",
"display": "Chapare hemorrhagic fever"
},
{
"code": "319247",
"display": "Hantavirus pulmonary syndrome"
},
{
"code": "319251",
"display": "Rift valley fever"
},
{
"code": "319254",
"display": "Kyasanur forest disease"
},
{
"code": "319266",
"display": "Omsk hemorrhagic fever"
},
{
"code": "319276",
"display": "Clear cell renal carcinoma"
},
{
"code": "319287",
"display": "Multilocular cystic renal neoplasm of low malignant potential"
},
{
"code": "319298",
"display": "Papillary renal cell carcinoma"
},
{
"code": "319303",
"display": "Chromophobe renal cell carcinoma"
},
{
"code": "319308",
"display": "MiT family translocation renal cell carcinoma"
},
{
"code": "319319",
"display": "Renal medullary carcinoma"
},
{
"code": "319322",
"display": "Mucinous tubular and spindle cell renal carcinoma"
},
{
"code": "319325",
"display": "Tubulocystic renal cell carcinoma"
},
{
"code": "319332",
"display": "Autosomal recessive myogenic arthrogryposis multiplex congenita"
},
{
"code": "319340",
"display": "Carney complex-trismus-pseudocamptodactyly syndrome"
},
{
"code": "319462",
"display": "Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations"
},
{
"code": "319465",
"display": "Inherited acute myeloid leukemia"
},
{
"code": "319480",
"display": "Acute myeloid leukemia with CEBPA somatic mutations"
},
{
"code": "319487",
"display": "Familial papillary or follicular thyroid carcinoma"
},
{
"code": "319504",
"display": "Combined oxidative phosphorylation defect type 8"
},
{
"code": "319509",
"display": "Combined oxidative phosphorylation defect type 9"
},
{
"code": "319514",
"display": "Combined oxidative phosphorylation defect type 13"
},
{
"code": "319519",
"display": "Combined oxidative phosphorylation defect type 14"
},
{
"code": "319524",
"display": "Combined oxidative phosphorylation defect type 15"
},
{
"code": "319547",
"display": "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency"
},
{
"code": "319552",
"display": "Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency"
},
{
"code": "319558",
"display": "Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency"
},
{
"code": "319563",
"display": "Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency"
},
{
"code": "319569",
"display": "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency"
},
{
"code": "319574",
"display": "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency"
},
{
"code": "319581",
"display": "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency"
},
{
"code": "319589",
"display": "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency"
},
{
"code": "319595",
"display": "Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency"
},
{
"code": "319600",
"display": "Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency"
},
{
"code": "319605",
"display": "X-linked mendelian susceptibility to mycobacterial diseases"
},
{
"code": "319612",
"display": "X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency"
},
{
"code": "319623",
"display": "X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency"
},
{
"code": "319635",
"display": "Amyloidosis cutis dyschromia"
},
{
"code": "319640",
"display": "Retinal macular dystrophy type 2"
},
{
"code": "319646",
"display": "PGM1-CDG"
},
{
"code": "319651",
"display": "Constitutional megaloblastic anemia with severe neurologic disease"
},
{
"code": "319667",
"display": "Primary lymphoma of the conjunctiva"
},
{
"code": "319671",
"display": "Alazami syndrome"
},
{
"code": "319675",
"display": "Microcephalic primordial dwarfism, Dauber type"
},
{
"code": "319678",
"display": "Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome"
},
{
"code": "320355",
"display": "Autosomal dominant spastic paraplegia type 41"
},
{
"code": "320360",
"display": "MT-ATP6-related mitochondrial spastic paraplegia"
},
{
"code": "320365",
"display": "Autosomal dominant spastic paraplegia type 36"
},
{
"code": "320370",
"display": "Autosomal recessive spastic paraplegia type 43"
},
{
"code": "320375",
"display": "Autosomal recessive spastic paraplegia type 55"
},
{
"code": "320380",
"display": "Autosomal recessive spastic paraplegia type 54"
},
{
"code": "320385",
"display": "Hereditary sensory and autonomic neuropathy due to TECPR2 mutation"
},
{
"code": "320391",
"display": "Autosomal recessive spastic paraplegia type 46"
},
{
"code": "320396",
"display": "Autosomal recessive spastic paraplegia type 45"
},
{
"code": "320401",
"display": "Autosomal recessive spastic paraplegia type 44"
},
{
"code": "320406",
"display": "Spastic paraplegia-optic atrophy-neuropathy syndrome"
},
{
"code": "320411",
"display": "Autosomal recessive spastic paraplegia type 56"
},
{
"code": "324262",
"display": "Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency"
},
{
"code": "324290",
"display": "Early-onset Lafora body disease"
},
{
"code": "324294",
"display": "T-cell immunodeficiency with epidermodysplasia verruciformis"
},
{
"code": "324299",
"display": "Multiple paragangliomas associated with polycythemia"
},
{
"code": "324307",
"display": "Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome"
},
{
"code": "324313",
"display": "9p13 microdeletion syndrome"
},
{
"code": "324321",
"display": "Sinoatrial node dysfunction and deafness"
},
{
"code": "324353",
"display": "Congenital achiasma"
},
{
"code": "324364",
"display": "Mixed sclerosing bone dystrophy with extra-skeletal manifestations"
},
{
"code": "324381",
"display": "Hereditary inclusion body myopathy type 4"
},
{
"code": "324410",
"display": "X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome"
},
{
"code": "324416",
"display": "Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome"
},
{
"code": "324422",
"display": "ALG13-CDG"
},
{
"code": "324442",
"display": "Autosomal recessive axonal neuropathy with neuromyotonia"
},
{
"code": "324525",
"display": "Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation"
},
{
"code": "324530",
"display": "Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation"
},
{
"code": "324535",
"display": "Combined oxidative phosphorylation defect type 11"
},
{
"code": "324540",
"display": "Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome"
},
{
"code": "324561",
"display": "Hypopigmentation-punctate palmoplantar keratoderma syndrome"
},
{
"code": "324569",
"display": "Pontocerebellar hypoplasia type 8"
},
{
"code": "324575",
"display": "Hyperinsulinism due to HNF1A deficiency"
},
{
"code": "324581",
"display": "Benign Samaritan congenital myopathy"
},
{
"code": "324585",
"display": "Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain"
},
{
"code": "324588",
"display": "Familial dyskinesia and facial myokymia"
},
{
"code": "324601",
"display": "X-linked cleft palate and ankyloglossia"
},
{
"code": "324604",
"display": "Classic multiminicore myopathy"
},
{
"code": "324611",
"display": "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation"
},
{
"code": "324625",
"display": "Chikungunya"
},
{
"code": "324632",
"display": "Hendra virus infection"
},
{
"code": "324636",
"display": "Autoerythrocyte sensitization syndrome"
},
{
"code": "324648",
"display": "Invasive non-typhoidal salmonellosis"
},
{
"code": "324703",
"display": "ABetaL34V amyloidosis"
},
{
"code": "324708",
"display": "ABeta amyloidosis, Iowa type"
},
{
"code": "324713",
"display": "ABeta amyloidosis, Italian type"
},
{
"code": "324718",
"display": "ABetaA21G amyloidosis"
},
{
"code": "324723",
"display": "ABeta amyloidosis, Arctic type"
},
{
"code": "324737",
"display": "SRD5A3-CDG"
},
{
"code": "324964",
"display": "Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis"
},
{
"code": "324972",
"display": "MAGIC syndrome"
},
{
"code": "324977",
"display": "Proteasome-associated autoinflammatory syndrome"
},
{
"code": "325124",
"display": "Testicular agenesis"
},
{
"code": "325345",
"display": "46,XY ovotesticular difference of sex development"
},
{
"code": "325448",
"display": "Leydig cell hypoplasia due to LHB deficiency"
},
{
"code": "325524",
"display": "Classic congenital lipoid adrenal hyperplasia due to STAR deficency"
},
{
"code": "325529",
"display": "Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency"
},
{
"code": "329173",
"display": "Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis"
},
{
"code": "329178",
"display": "Congenital muscular dystrophy with intellectual disability and severe epilepsy"
},
{
"code": "329191",
"display": "Tall stature-long halluces-multiple extra-epiphyses syndrome"
},
{
"code": "329195",
"display": "Developmental delay with autism spectrum disorder and gait instability"
},
{
"code": "329211",
"display": "Autosomal dominant neovascular inflammatory vitreoretinopathy"
},
{
"code": "329217",
"display": "Cerebral sinovenous thrombosis"
},
{
"code": "329224",
"display": "Schuurs-Hoeijmakers syndrome"
},
{
"code": "329228",
"display": "Microcephalic primordial dwarfism due to ZNF335 deficiency"
},
{
"code": "329235",
"display": "X-linked central congenital hypothyroidism with late-onset testicular enlargement"
},
{
"code": "329242",
"display": "Congenital chronic diarrhea with protein-losing enteropathy"
},
{
"code": "329249",
"display": "Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency"
},
{
"code": "329258",
"display": "Autosomal dominant Charcot-Marie-Tooth disease type 2Q"
},
{
"code": "329284",
"display": "Beta-propeller protein-associated neurodegeneration"
},
{
"code": "329308",
"display": "Fatty acid hydroxylase-associated neurodegeneration"
},
{
"code": "329314",
"display": "Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency"
},
{
"code": "329319",
"display": "Thrombocythemia with distal limb defects"
},
{
"code": "329324",
"display": "Inverse Klippel-Trénaunay syndrome"
},
{
"code": "329329",
"display": "Autosomal recessive frontotemporal pachygyria"
},
{
"code": "329332",
"display": "Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome"
},
{
"code": "329336",
"display": "Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy"
},
{
"code": "329457",
"display": "Distal arthrogryposis type 5D"
},
{
"code": "329466",
"display": "Autosomal dominant focal dystonia, DYT25 type"
},
{
"code": "329469",
"display": "Acute megakaryoblastic leukemia in children without Down syndrome"
},
{
"code": "329475",
"display": "Spastic paraplegia-Paget disease of bone syndrome"
},
{
"code": "329478",
"display": "Adult-onset distal myopathy due to VCP mutation"
},
{
"code": "329481",
"display": "Lipoprotein glomerulopathy"
},
{
"code": "329802",
"display": "5p13 microduplication syndrome"
},
{
"code": "329813",
"display": "Mosaic genome-wide paternal uniparental disomy"
},
{
"code": "329874",
"display": "Idiopathic giant cell myocarditis"
},
{
"code": "329883",
"display": "Non-hypoproteinemic hypertrophic gastropathy"
},
{
"code": "329894",
"display": "Juvenile overlap myositis"
},
{
"code": "329903",
"display": "Immunoglobulin-mediated membranoproliferative glomerulonephritis"
},
{
"code": "329918",
"display": "C3 glomerulopathy"
},
{
"code": "329931",
"display": "C3 glomerulonephritis"
},
{
"code": "329942",
"display": "Transient neonatal multiple acyl-CoA dehydrogenase deficiency"
},
{
"code": "329967",
"display": "Intermittent hydrarthrosis"
},
{
"code": "329971",
"display": "Generalized juvenile polyposis/juvenile polyposis coli"
},
{
"code": "329977",
"display": "Classic neuroendocrine tumor of appendix"
},
{
"code": "329984",
"display": "Goblet cell carcinoma"
},
{
"code": "330001",
"display": "Wild type ATTR amyloidosis"
},
{
"code": "330012",
"display": "High altitude pulmonary edema"
},
{
"code": "330015",
"display": "Lead poisoning"
},
{
"code": "330021",
"display": "Mercury poisoning"
},
{
"code": "330029",
"display": "Hypotrichosis-deafness syndrome"
},
{
"code": "330032",
"display": "Hemoglobin Lepore-beta-thalassemia syndrome"
},
{
"code": "330041",
"display": "Hemoglobin M disease"
},
{
"code": "330050",
"display": "DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect"
},
{
"code": "330054",
"display": "Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome"
},
{
"code": "330058",
"display": "Hydroa vacciniforme"
},
{
"code": "330061",
"display": "Actinic prurigo"
},
{
"code": "330064",
"display": "Chronic actinic dermatitis"
},
{
"code": "331176",
"display": "Severe congenital neutropenia due to G6PC3 deficiency"
},
{
"code": "331187",
"display": "Immunodeficiency due to MASP-2 deficiency"
},
{
"code": "331190",
"display": "Immunodeficiency due to ficolin3 deficiency"
},
{
"code": "331206",
"display": "Severe combined immunodeficiency due to complete RAG1/2 deficiency"
},
{
"code": "331226",
"display": "Susceptibility to infection due to TYK2 deficiency"
},
{
"code": "331235",
"display": "Selective IgM deficiency"
},
{
"code": "352328",
"display": "MEGDEL syndrome"
},
{
"code": "352333",
"display": "Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome"
},
{
"code": "352403",
"display": "Spectrin-associated autosomal recessive cerebellar ataxia"
},
{
"code": "352447",
"display": "Progressive external ophthalmoplegia-myopathy-emaciation syndrome"
},
{
"code": "352470",
"display": "DNA2-related mitochondrial DNA deletion syndrome"
},
{
"code": "352479",
"display": "ISPD-related limb-girdle muscular dystrophy R20"
},
{
"code": "352490",
"display": "Autism spectrum disorder due to AUTS2 deficiency"
},
{
"code": "352530",
"display": "Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome"
},
{
"code": "352540",
"display": "Oncogenic osteomalacia"
},
{
"code": "352563",
"display": "Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency"
},
{
"code": "352577",
"display": "Bainbridge-Ropers syndrome"
},
{
"code": "352582",
"display": "Familial infantile myoclonic epilepsy"
},
{
"code": "352587",
"display": "Focal epilepsy-intellectual disability-cerebro-cerebellar malformation"
},
{
"code": "352596",
"display": "Progressive myoclonic epilepsy with dystonia"
},
{
"code": "352629",
"display": "16q24.1 microdeletion syndrome"
},
{
"code": "352636",
"display": "Phalangeal microgeodic syndrome"
},
{
"code": "352641",
"display": "Autosomal recessive cerebellar ataxia with late-onset spasticity"
},
{
"code": "352649",
"display": "Brain dopamine-serotonin vesicular transport disease"
},
{
"code": "352654",
"display": "Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome"
},
{
"code": "352657",
"display": "Hereditary benign intraepithelial dyskeratosis"
},
{
"code": "352662",
"display": "Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome"
},
{
"code": "352665",
"display": "Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion"
},
{
"code": "352670",
"display": "Autosomal dominant intermediate Charcot-Marie-Tooth disease type F"
},
{
"code": "352675",
"display": "X-linked Charcot-Marie-Tooth disease type 6"
},
{
"code": "352682",
"display": "Cobblestone lissencephaly without muscular or ocular involvement"
},
{
"code": "352709",
"display": "CLN13 disease"
},
{
"code": "352712",
"display": "Facial dysmorphism-immunodeficiency-livedo-short stature syndrome"
},
{
"code": "352718",
"display": "Progressive retinal dystrophy due to retinol transport defect"
},
{
"code": "352723",
"display": "Attenuated Chédiak-Higashi syndrome"
},
{
"code": "352731",
"display": "Oculocutaneous albinism type 1"
},
{
"code": "352734",
"display": "Minimal pigment oculocutaneous albinism type 1"
},
{
"code": "352737",
"display": "Temperature-sensitive oculocutaneous albinism type 1"
},
{
"code": "352745",
"display": "Oculocutaneous albinism type 7"
},
{
"code": "352763",
"display": "Scleredema"
},
{
"code": "353217",
"display": "Epileptic encephalopathy with global cerebral demyelination"
},
{
"code": "353220",
"display": "Familial primary localized cutaneous amyloidosis"
},
{
"code": "353253",
"display": "Burning mouth syndrome"
},
{
"code": "353277",
"display": "Rubinstein-Taybi syndrome due to CREBBP mutations"
},
{
"code": "353281",
"display": "Rubinstein-Taybi syndrome due to 16p13.3 microdeletion"
},
{
"code": "353284",
"display": "Rubinstein-Taybi syndrome due to EP300 haploinsufficiency"
},
{
"code": "353298",
"display": "Roifman syndrome"
},
{
"code": "353308",
"display": "Pyruvate carboxylase deficiency, infantile type"
},
{
"code": "353314",
"display": "Pyruvate carboxylase deficiency, severe neonatal type"
},
{
"code": "353320",
"display": "Pyruvate carboxylase deficiency, benign type"
},
{
"code": "353327",
"display": "Congenital myasthenic syndromes with glycosylation defect"
},
{
"code": "353334",
"display": "Congenital retinal arteriovenous communication"
},
{
"code": "353344",
"display": "Idiopathic macular telangiectasia type 1"
},
{
"code": "353351",
"display": "Idiopathic macular telangiectasia type 3"
},
{
"code": "353356",
"display": "Vasoproliferative tumor of the retina"
},
{
"code": "356947",
"display": "3q26q27 microdeletion syndrome"
},
{
"code": "356961",
"display": "SLC35A2-CDG"
},
{
"code": "356978",
"display": "D,L-2-hydroxyglutaric aciduria"
},
{
"code": "356996",
"display": "ANK3-related intellectual disability-sleep disturbance syndrome"
},
{
"code": "357001",
"display": "19p13.13 microdeletion syndrome"
},
{
"code": "357008",
"display": "Hemolytic uremic syndrome with DGKE deficiency"
},
{
"code": "357027",
"display": "Hereditary retinoblastoma"
},
{
"code": "357034",
"display": "Non-hereditary retinoblastoma"
},
{
"code": "357043",
"display": "Amyotrophic lateral sclerosis type 4"
},
{
"code": "357058",
"display": "Autosomal recessive cutis laxa type 2A"
},
{
"code": "357064",
"display": "Autosomal recessive cutis laxa type 2B"
},
{
"code": "357074",
"display": "Autosomal recessive cutis laxa type 2, classic type"
},
{
"code": "357107",
"display": "Arterial thoracic outlet syndrome"
},
{
"code": "357131",
"display": "Venous thoracic outlet syndrome"
},
{
"code": "357154",
"display": "Oral submucous fibrosis"
},
{
"code": "357158",
"display": "Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome"
},
{
"code": "357175",
"display": "Short ulna-dysmorphism-hypotonia-intellectual disability syndrome"
},
{
"code": "357220",
"display": "Primary essential cutis verticis gyrata"
},
{
"code": "357225",
"display": "Primary non-essential cutis verticis gyrata"
},
{
"code": "357237",
"display": "Combined immunodeficiency due to CARD11 deficiency"
},
{
"code": "357329",
"display": "Combined immunodeficiency due to IL21R deficiency"
},
{
"code": "357332",
"display": "Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome"
},
{
"code": "363396",
"display": "High myopia-sensorineural deafness syndrome"
},
{
"code": "363400",
"display": "Severe neurodegenerative syndrome with lipodystrophy"
},
{
"code": "363409",
"display": "Fetal akinesia-cerebral and retinal hemorrhage syndrome"
},
{
"code": "363412",
"display": "Hypomyelination with brain stem and spinal cord involvement and leg spasticity"
},
{
"code": "363417",
"display": "Temtamy preaxial brachydactyly syndrome"
},
{
"code": "363424",
"display": "Multiple mitochondrial dysfunctions syndrome type 3"
},
{
"code": "363429",
"display": "Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome"
},
{
"code": "363432",
"display": "Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency"
},
{
"code": "363444",
"display": "THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome"
},
{
"code": "363447",
"display": "Autosomal dominant childhood-onset proximal spinal muscular atrophy"
},
{
"code": "363454",
"display": "BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy"
},
{
"code": "363478",
"display": "Paratesticular adenocarcinoma"
},
{
"code": "363483",
"display": "Testicular teratoma"
},
{
"code": "363489",
"display": "Sex cord-stromal tumor of testis"
},
{
"code": "363494",
"display": "Non-seminomatous germ cell tumor of testis"
},
{
"code": "363523",
"display": "Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome"
},
{
"code": "363528",
"display": "Intellectual disability-strabismus syndrome"
},
{
"code": "363534",
"display": "Mitochondrial DNA depletion syndrome, hepatocerebrorenal form"
},
{
"code": "363540",
"display": "Leukoencephalopathy with mild cerebellar ataxia and white matter edema"
},
{
"code": "363549",
"display": "Acute encephalopathy with biphasic seizures and late reduced diffusion"
},
{
"code": "363558",
"display": "New-onset refractory status epilepticus"
},
{
"code": "363611",
"display": "CTCF-related neurodevelopmental disorder"
},
{
"code": "363618",
"display": "LMNA-related cardiocutaneous progeria syndrome"
},
{
"code": "363623",
"display": "GMPPB-related limb-girdle muscular dystrophy R19"
},
{
"code": "363649",
"display": "Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome"
},
{
"code": "363654",
"display": "X-linked parkinsonism-spasticity syndrome"
},
{
"code": "363659",
"display": "20q11.2 microduplication syndrome"
},
{
"code": "363665",
"display": "Acroosteolysis-keloid-like lesions-premature aging syndrome"
},
{
"code": "363677",
"display": "Childhood-onset autosomal recessive myopathy with external ophthalmoplegia"
},
{
"code": "363680",
"display": "2p13.2 microdeletion syndrome"
},
{
"code": "363686",
"display": "Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome"
},
{
"code": "363694",
"display": "Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome"
},
{
"code": "363700",
"display": "Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion"
},
{
"code": "363705",
"display": "Craniofaciofrontodigital syndrome"
},
{
"code": "363710",
"display": "Spinocerebellar ataxia type 37"
},
{
"code": "363717",
"display": "Alexander disease type I"
},
{
"code": "363722",
"display": "Alexander disease type II"
},
{
"code": "363727",
"display": "X-linked dyserythropoietic anemia with abnormal platelets and neutropenia"
},
{
"code": "363741",
"display": "Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome"
},
{
"code": "363746",
"display": "Balint syndrome"
},
{
"code": "363958",
"display": "17q21.31 microdeletion syndrome"
},
{
"code": "363965",
"display": "Koolen-De Vries syndrome due to a point mutation"
},
{
"code": "363969",
"display": "Autosomal recessive cerebral atrophy"
},
{
"code": "363972",
"display": "Noonan syndrome-like disorder with juvenile myelomonocytic leukemia"
},
{
"code": "363976",
"display": "Giant cell tumor of bone"
},
{
"code": "363981",
"display": "Charcot-Marie-Tooth disease type 4B3"
},
{
"code": "363989",
"display": "Familial benign flecked retina"
},
{
"code": "363992",
"display": "Ichthyosis-short stature-brachydactyly-microspherophakia syndrome"
},
{
"code": "363999",
"display": "Non-immune hydrops fetalis"
},
{
"code": "364013",
"display": "Immune hydrops fetalis"
},
{
"code": "364028",
"display": "X-linked intellectual disability due to GRIA3 mutations"
},
{
"code": "364033",
"display": "Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood"
},
{
"code": "364039",
"display": "Hydroa vacciniforme-like lymphoma"
},
{
"code": "364043",
"display": "ALK-positive large B-cell lymphoma"
},
{
"code": "364055",
"display": "Severe early-childhood-onset retinal dystrophy"
},
{
"code": "364063",
"display": "Infantile epileptic-dyskinetic encephalopathy"
},
{
"code": "364198",
"display": "Bipartite talus"
},
{
"code": "364577",
"display": "Intellectual disability-brachydactyly-Pierre Robin syndrome"
},
{
"code": "369837",
"display": "Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome"
},
{
"code": "369840",
"display": "TRAPPC11-related limb-girdle muscular dystrophy R18"
},
{
"code": "369847",
"display": "Intellectual disability-hyperkinetic movement-truncal ataxia syndrome"
},
{
"code": "369852",
"display": "Congenital neutropenia-myelofibrosis-nephromegaly syndrome"
},
{
"code": "369861",
"display": "Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome"
},
{
"code": "369867",
"display": "Autosomal recessive intermediate Charcot-Marie-Tooth disease type C"
},
{
"code": "369873",
"display": "Obesity due to SIM1 deficiency"
},
{
"code": "369881",
"display": "2p21 microdeletion syndrome without cystinuria"
},
{
"code": "369891",
"display": "Developmental delay-facial dysmorphism syndrome due to MED13L deficiency"
},
{
"code": "369897",
"display": "Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies"
},
{
"code": "369913",
"display": "Combined oxidative phosphorylation defect type 17"
},
{
"code": "369920",
"display": "Pontocerebellar hypoplasia type 9"
},
{
"code": "369929",
"display": "Primary hyperaldosteronism-seizures-neurological abnormalities syndrome"
},
{
"code": "369939",
"display": "Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome"
},
{
"code": "369942",
"display": "CADDS"
},
{
"code": "369950",
"display": "Intellectual disability-seizures-macrocephaly-obesity syndrome"
},
{
"code": "369955",
"display": "Methylmalonic acidemia with homocystinuria, type cblJ"
},
{
"code": "369962",
"display": "Methylmalonic acidemia with homocystinuria, type cblX"
},
{
"code": "369970",
"display": "Microcornea-myopic chorioretinal atrophy-telecanthus syndrome"
},
{
"code": "369979",
"display": "Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome"
},
{
"code": "369992",
"display": "Severe dermatitis-multiple allergies-metabolic wasting syndrome"
},
{
"code": "369999",
"display": "Diffuse palmoplantar keratoderma with painful fissures"
},
{
"code": "370002",
"display": "Focal palmoplantar keratoderma with joint keratoses"
},
{
"code": "370010",
"display": "Intellectual disability-facial dysmorphism-hand anomalies syndrome"
},
{
"code": "370015",
"display": "Spondyloepimetaphyseal dysplasia, Isidor-Toutain type"
},
{
"code": "370022",
"display": "Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome"
},
{
"code": "370026",
"display": "Acute myeloid leukemia with t(8;16)(p11;p13) translocation"
},
{
"code": "370034",
"display": "Familial syringomyelia"
},
{
"code": "370039",
"display": "Angora hair nevus"
},
{
"code": "370046",
"display": "Didymosis aplasticosebacea"
},
{
"code": "370052",
"display": "SCALP syndrome"
},
{
"code": "370059",
"display": "NEVADA syndrome"
},
{
"code": "370076",
"display": "Fetal carbamazepine syndrome"
},
{
"code": "370079",
"display": "Proximal 16p11.2 microduplication syndrome"
},
{
"code": "370088",
"display": "Acute infantile liver failure-multisystemic involvement syndrome"
},
{
"code": "370091",
"display": "Oculocutaneous albinism type 5"
},
{
"code": "370097",
"display": "Oculocutaneous albinism type 6"
},
{
"code": "370103",
"display": "Primary dystonia, DYT17 type"
},
{
"code": "370109",
"display": "Ataxia-telangiectasia variant"
},
{
"code": "370127",
"display": "Medich giant platelet syndrome"
},
{
"code": "370131",
"display": "White platelet syndrome"
},
{
"code": "370334",
"display": "Extraskeletal Ewing sarcoma"
},
{
"code": "370348",
"display": "Peripheral primitive neuroectodermal tumor"
},
{
"code": "370396",
"display": "Small cell carcinoma of the ovary"
},
{
"code": "370921",
"display": "STT3A-CDG"
},
{
"code": "370924",
"display": "STT3B-CDG"
},
{
"code": "370927",
"display": "SSR4-CDG"
},
{
"code": "370930",
"display": "XYLT1-CDG"
},
{
"code": "370933",
"display": "GM3 synthase deficiency"
},
{
"code": "370943",
"display": "Autism spectrum disorder-epilepsy-arthrogryposis syndrome"
},
{
"code": "370959",
"display": "Congenital muscular dystrophy with cerebellar involvement"
},
{
"code": "370968",
"display": "Congenital muscular dystrophy with intellectual disability"
},
{
"code": "370980",
"display": "Congenital muscular dystrophy without intellectual disability"
},
{
"code": "370997",
"display": "Muscle-eye-brain disease with bilateral multicystic leucodystrophy"
},
{
"code": "371007",
"display": "Congenital muscular dystrophy with hyperlaxity"
},
{
"code": "371364",
"display": "Hypotonia-speech impairment-severe cognitive delay syndrome"
},
{
"code": "371428",
"display": "Multicentric osteolysis-nodulosis-arthropathy spectrum"
},
{
"code": "391307",
"display": "Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome"
},
{
"code": "391311",
"display": "Susceptibility to viral and mycobacterial infections due to STAT1 deficiency"
},
{
"code": "391316",
"display": "Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression"
},
{
"code": "391320",
"display": "East Texas bleeding disorder"
},
{
"code": "391327",
"display": "X-linked calvarial hyperostosis"
},
{
"code": "391330",
"display": "X-linked osteoporosis with fractures"
},
{
"code": "391343",
"display": "Fatal post-viral neurodegenerative disorder"
},
{
"code": "391348",
"display": "Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome"
},
{
"code": "391351",
"display": "SURF1-related Charcot-Marie-Tooth disease type 4"
},
{
"code": "391366",
"display": "Growth retardation-mild developmental delay-chronic hepatitis syndrome"
},
{
"code": "391372",
"display": "FOXP1 Syndrome"
},
{
"code": "391376",
"display": "Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome"
},
{
"code": "391384",
"display": "Familial episodic pain syndrome"
},
{
"code": "391389",
"display": "Familial episodic pain syndrome with predominantly upper body involvement"
},
{
"code": "391392",
"display": "Familial episodic pain syndrome with predominantly lower limb involvement"
},
{
"code": "391397",
"display": "Hereditary sensory and autonomic neuropathy type 7"
},
{
"code": "391408",
"display": "Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome"
},
{
"code": "391411",
"display": "Atypical juvenile parkinsonism"
},
{
"code": "391417",
"display": "HSD10 disease"
},
{
"code": "391428",
"display": "HSD10 disease, infantile type"
},
{
"code": "391457",
"display": "HSD10 disease, neonatal type"
},
{
"code": "391474",
"display": "Frontorhiny"
},
{
"code": "391487",
"display": "STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome"
},
{
"code": "391490",
"display": "Adult-onset myasthenia gravis"
},
{
"code": "391497",
"display": "Juvenile myasthenia gravis"
},
{
"code": "391504",
"display": "Transient neonatal myasthenia gravis"
},
{
"code": "391641",
"display": "Feingold syndrome type 1"
},
{
"code": "391646",
"display": "Feingold syndrome type 2"
},
{
"code": "391651",
"display": "Glomus tumor"
},
{
"code": "391655",
"display": "Off-periods in Parkinson disease not responding to oral treatment"
},
{
"code": "391665",
"display": "Homozygous familial hypercholesterolemia"
},
{
"code": "391673",
"display": "Necrotizing enterocolitis"
},
{
"code": "391677",
"display": "Short stature-optic atrophy-Pelger-Huët anomaly syndrome"
},
{
"code": "391723",
"display": "Mucinous adenocarcinoma of the appendix"
},
{
"code": "394529",
"display": "Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type"
},
{
"code": "394532",
"display": "Multiple acyl-CoA dehydrogenase deficiency, mild type"
},
{
"code": "397587",
"display": "Deep dermatophytosis"
},
{
"code": "397590",
"display": "Silver-Russell syndrome due to a point mutation"
},
{
"code": "397593",
"display": "Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency"
},
{
"code": "397596",
"display": "Activated PI3K-delta syndrome"
},
{
"code": "397606",
"display": "PrP systemic amyloidosis"
},
{
"code": "397612",
"display": "Macrocephaly-developmental delay syndrome"
},
{
"code": "397615",
"display": "Obesity due to CEP19 deficiency"
},
{
"code": "397618",
"display": "Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome"
},
{
"code": "397623",
"display": "Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome"
},
{
"code": "397685",
"display": "Familial hyperprolactinemia"
},
{
"code": "397692",
"display": "Hereditary isolated aplastic anemia"
},
{
"code": "397695",
"display": "3q27.3 microdeletion syndrome"
},
{
"code": "397709",
"display": "Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome"
},
{
"code": "397715",
"display": "Joubert syndrome with Jeune asphyxiating thoracic dystrophy"
},
{
"code": "397725",
"display": "COASY protein-associated neurodegeneration"
},
{
"code": "397735",
"display": "Autosomal dominant Charcot-Marie-Tooth disease type 2U"
},
{
"code": "397744",
"display": "Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome"
},
{
"code": "397750",
"display": "Periodic paralysis with later-onset distal motor neuropathy"
},
{
"code": "397755",
"display": "Periodic paralysis with transient compartment-like syndrome"
},
{
"code": "397758",
"display": "Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies"
},
{
"code": "397787",
"display": "Severe combined immunodeficiency due to IKK2 deficiency"
},
{
"code": "397922",
"display": "Ferro-cerebro-cutaneous syndrome"
},
{
"code": "397927",
"display": "Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome"
},
{
"code": "397933",
"display": "Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome"
},
{
"code": "397937",
"display": "Polyglucosan body myopathy type 1"
},
{
"code": "397941",
"display": "MAN1B1-CDG"
},
{
"code": "397946",
"display": "Autosomal spastic paraplegia type 58"
},
{
"code": "397951",
"display": "Microcephaly-thin corpus callosum-intellectual disability syndrome"
},
{
"code": "397959",
"display": "TCR-alpha-beta-positive T-cell deficiency"
},
{
"code": "397964",
"display": "Combined immunodeficiency due to MALT1 deficiency"
},
{
"code": "397968",
"display": "Charcot-Marie-Tooth disease type 2R"
},
{
"code": "397973",
"display": "Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome"
},
{
"code": "398053",
"display": "Adenocarcinoma of the penis"
},
{
"code": "398058",
"display": "Squamous cell carcinoma of the penis"
},
{
"code": "398063",
"display": "Refractory celiac disease"
},
{
"code": "398069",
"display": "MAGEL2-related Prader-Willi-like syndrome"
},
{
"code": "398079",
"display": "SIM1-related Prader-Willi-like syndrome"
},
{
"code": "398088",
"display": "Hereditary cryohydrocytosis with normal stomatin"
},
{
"code": "398097",
"display": "Neonatal antiphospholipid syndrome"
},
{
"code": "398109",
"display": "Neonatal autoimmune hemolytic anemia"
},
{
"code": "398117",
"display": "Neonatal dermatomyositis"
},
{
"code": "398124",
"display": "Neonatal lupus erythematosus"
},
{
"code": "398127",
"display": "Neonatal scleroderma"
},
{
"code": "398147",
"display": "Persistent idiopathic facial pain"
},
{
"code": "398156",
"display": "Oculoauriculofrontonasal syndrome"
},
{
"code": "398166",
"display": "Focal facial dermal dysplasia"
},
{
"code": "398173",
"display": "Focal facial dermal dysplasia type II"
},
{
"code": "398189",
"display": "Focal facial dermal dysplasia type IV"
},
{
"code": "398961",
"display": "Mucinous adenocarcinoma of ovary"
},
{
"code": "398971",
"display": "Clear cell adenocarcinoma of the ovary"
},
{
"code": "398987",
"display": "Malignant teratoma of ovary"
},
{
"code": "399058",
"display": "Alpha-B crystallin-related late-onset myopathy"
},
{
"code": "399081",
"display": "KLHL9-related early-onset distal myopathy"
},
{
"code": "399086",
"display": "Finnish upper limb-onset distal myopathy"
},
{
"code": "399096",
"display": "Distal anoctaminopathy"
},
{
"code": "399103",
"display": "Distal nebulin myopathy"
},
{
"code": "399175",
"display": "Traumatic avascular necrosis"
},
{
"code": "399180",
"display": "Secondary non-traumatic avascular necrosis"
},
{
"code": "399293",
"display": "Osteonecrosis of the jaw"
},
{
"code": "399307",
"display": "Idiopathic avascular necrosis"
},
{
"code": "399329",
"display": "Epiphysiolysis of the hip"
},
{
"code": "399805",
"display": "Male infertility with azoospermia or oligozoospermia due to single gene mutation"
},
{
"code": "399808",
"display": "Male infertility with teratozoospermia due to single gene mutation"
},
{
"code": "401764",
"display": "Pancytopenia-developmental delay syndrome"
},
{
"code": "401768",
"display": "Proximal myopathy with extrapyramidal signs"
},
{
"code": "401777",
"display": "Optic atrophy-intellectual disability syndrome"
},
{
"code": "401780",
"display": "Autosomal recessive spastic paraplegia type 61"
},
{
"code": "401785",
"display": "Autosomal recessive spastic paraplegia type 62"
},
{
"code": "401795",
"display": "Autosomal recessive spastic paraplegia type 59"
},
{
"code": "401800",
"display": "Autosomal recessive spastic paraplegia type 60"
},
{
"code": "401805",
"display": "Autosomal recessive spastic paraplegia type 63"
},
{
"code": "401810",
"display": "Autosomal recessive spastic paraplegia type 64"
},
{
"code": "401815",
"display": "Autosomal recessive spastic paraplegia type 66"
},
{
"code": "401820",
"display": "Autosomal recessive spastic paraplegia type 67"
},
{
"code": "401830",
"display": "Autosomal recessive spastic paraplegia type 69"
},
{
"code": "401835",
"display": "Autosomal recessive spastic paraplegia type 70"
},
{
"code": "401840",
"display": "Autosomal recessive spastic paraplegia type 71"
},
{
"code": "401849",
"display": "Autosomal spastic paraplegia type 72"
},
{
"code": "401859",
"display": "Lipoic acid synthetase deficiency"
},
{
"code": "401862",
"display": "Lipoyl transferase 1 deficiency"
},
{
"code": "401866",
"display": "Childhood-onset spasticity with hyperglycinemia"
},
{
"code": "401869",
"display": "Multiple mitochondrial dysfunctions syndrome type 1"
},
{
"code": "401874",
"display": "Multiple mitochondrial dysfunctions syndrome type 2"
},
{
"code": "401901",
"display": "Huntington disease-like syndrome due to C9ORF72 expansions"
},
{
"code": "401911",
"display": "AXIN2-related attenuated familial adenomatous polyposis"
},
{
"code": "401920",
"display": "Fibrolamellar hepatocellular carcinoma"
},
{
"code": "401923",
"display": "9q31.1q31.3 microdeletion syndrome"
},
{
"code": "401935",
"display": "14q24.1q24.3 microdeletion syndrome"
},
{
"code": "401942",
"display": "Familial median cleft of the upper and lower lips"
},
{
"code": "401945",
"display": "Moyamoya disease with early-onset achalasia"
},
{
"code": "401948",
"display": "Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency"
},
{
"code": "401953",
"display": "Episodic ataxia with slurred speech"
},
{
"code": "401959",
"display": "Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome"
},
{
"code": "401964",
"display": "Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons"
},
{
"code": "401973",
"display": "MEND syndrome"
},
{
"code": "401979",
"display": "Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type"
},
{
"code": "401986",
"display": "1p31p32 microdeletion syndrome"
},
{
"code": "401996",
"display": "Karyomegalic interstitial nephritis"
},
{
"code": "402003",
"display": "Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering"
},
{
"code": "402014",
"display": "Acute myeloid leukemia with t(6;9)(p23;q34)"
},
{
"code": "402017",
"display": "Acute myeloid leukemia with t(9;11)(p22;q23)"
},
{
"code": "402020",
"display": "Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)"
},
{
"code": "402023",
"display": "Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)"
},
{
"code": "402026",
"display": "Acute myeloid leukemia with NPM1 somatic mutations"
},
{
"code": "402035",
"display": "Eosinophilic colitis"
},
{
"code": "402041",
"display": "Autosomal recessive distal renal tubular acidosis"
},
{
"code": "402075",
"display": "Familial bicuspid aortic valve"
},
{
"code": "402082",
"display": "Progressive myoclonic epilepsy type 5"
},
{
"code": "402364",
"display": "Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly"
},
{
"code": "402823",
"display": "Hepatitis delta"
},
{
"code": "404437",
"display": "Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome"
},
{
"code": "404440",
"display": "Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency"
},
{
"code": "404443",
"display": "Tatton-Brown-Rahman syndrome"
},
{
"code": "404448",
"display": "ADNP syndrome"
},
{
"code": "404451",
"display": "FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome"
},
{
"code": "404454",
"display": "Alacrimia-choreoathetosis-liver dysfunction syndrome"
},
{
"code": "404463",
"display": "Multisystemic smooth muscle dysfunction syndrome"
},
{
"code": "404466",
"display": "Female infertility due to zona pellucida defect"
},
{
"code": "404473",
"display": "Severe intellectual disability-progressive spastic diplegia syndrome"
},
{
"code": "404476",
"display": "Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome"
},
{
"code": "404493",
"display": "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency"
},
{
"code": "404499",
"display": "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency"
},
{
"code": "404507",
"display": "Chondromyxoid fibroma"
},
{
"code": "404511",
"display": "Clear cell papillary renal cell carcinoma"
},
{
"code": "404514",
"display": "Acquired cystic disease-associated renal cell carcinoma"
},
{
"code": "404521",
"display": "Spinal muscular atrophy with respiratory distress type 2"
},
{
"code": "404546",
"display": "DITRA"
},
{
"code": "404553",
"display": "Adenosine deaminase 2 deficiency"
},
{
"code": "404560",
"display": "Familial atypical multiple mole melanoma syndrome"
},
{
"code": "411493",
"display": "Pontocerebellar hypoplasia type 10"
},
{
"code": "411501",
"display": "Williams-Campbell syndrome"
},
{
"code": "411511",
"display": "Angelman syndrome due to a point mutation"
},
{
"code": "411515",
"display": "Angelman syndrome due to imprinting defect in 15q11-q13"
},
{
"code": "411527",
"display": "Central retinal vein occlusion"
},
{
"code": "411536",
"display": "Mild phosphoribosylpyrophosphate synthetase superactivity"
},
{
"code": "411543",
"display": "Severe phosphoribosylpyrophosphate synthetase superactivity"
},
{
"code": "411590",
"display": "Wolfram-like syndrome"
},
{
"code": "411593",
"display": "Insulin autoimmune syndrome"
},
{
"code": "411602",
"display": "Hereditary late-onset Parkinson disease"
},
{
"code": "411629",
"display": "Infantile nephropathic cystinosis"
},
{
"code": "411634",
"display": "Juvenile nephropathic cystinosis"
},
{
"code": "411641",
"display": "Ocular cystinosis"
},
{
"code": "411696",
"display": "Proton-pump inhibitor-responsive esophageal eosinophilia"
},
{
"code": "411703",
"display": "Pulmonary non-tuberculous mycobacterial infection"
},
{
"code": "411709",
"display": "Renal agenesis"
},
{
"code": "411712",
"display": "Maternal riboflavin deficiency"
},
{
"code": "411777",
"display": "Generalized eruptive keratoacanthoma"
},
{
"code": "411788",
"display": "Familial isolated trichomegaly"
},
{
"code": "411986",
"display": "Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome"
},
{
"code": "412022",
"display": "Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome"
},
{
"code": "412035",
"display": "13q12.3 microdeletion syndrome"
},
{
"code": "412057",
"display": "Autosomal recessive cerebellar ataxia due to STUB1 deficiency"
},
{
"code": "412066",
"display": "PRKAR1B-related neurodegenerative dementia with intermediate filaments"
},
{
"code": "412069",
"display": "AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome"
},
{
"code": "412181",
"display": "Epidermolysis bullosa simplex due to BP230 deficiency"
},
{
"code": "412189",
"display": "Epidermolysis bullosa simplex due to exophilin 5 deficiency"
},
{
"code": "412206",
"display": "Primary failure of tooth eruption"
},
{
"code": "412217",
"display": "Dystonia-aphonia syndrome"
},
{
"code": "418945",
"display": "Carcinoma of esophagus, salivary gland type"
},
{
"code": "418951",
"display": "Undifferentiated carcinoma of esophagus"
},
{
"code": "418959",
"display": "Squamous cell carcinoma of the stomach"
},
{
"code": "420179",
"display": "Malan overgrowth syndrome"
},
{
"code": "420259",
"display": "Secondary pulmonary alveolar proteinosis"
},
{
"code": "420402",
"display": "Semicircular canal dehiscence syndrome"
},
{
"code": "420429",
"display": "Glycogen storage disease due to acid maltase deficiency, late-onset"
},
{
"code": "420485",
"display": "Cranio-cervical dystonia with laryngeal and upper-limb involvement"
},
{
"code": "420492",
"display": "Adult-onset cervical dystonia, DYT23 type"
},
{
"code": "420556",
"display": "Visual snow syndrome"
},
{
"code": "420561",
"display": "Temple-Baraitser syndrome"
},
{
"code": "420566",
"display": "Bleeding disorder due to CalDAG-GEFI deficiency"
},
{
"code": "420573",
"display": "Severe combined immunodeficiency due to CTPS1 deficiency"
},
{
"code": "420584",
"display": "Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome"
},
{
"code": "420611",
"display": "Transient myeloproliferative syndrome"
},
{
"code": "420686",
"display": "Woolly hair-palmoplantar keratoderma syndrome"
},
{
"code": "420699",
"display": "Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency"
},
{
"code": "420702",
"display": "Autosomal recessive severe congenital neutropenia due to CSF3R deficiency"
},
{
"code": "420728",
"display": "Combined oxidative phosphorylation defect type 20"
},
{
"code": "420733",
"display": "Combined oxidative phosphorylation defect type 21"
},
{
"code": "420741",
"display": "RIDDLE syndrome"
},
{
"code": "420789",
"display": "Autoimmune encephalopathy with parasomnia and obstructive sleep apnea"
},
{
"code": "420794",
"display": "Cono-spondylar dysplasia"
},
{
"code": "422526",
"display": "Hereditary clear cell renal cell carcinoma"
},
{
"code": "423275",
"display": "Spinocerebellar ataxia type 40"
},
{
"code": "423296",
"display": "Spinocerebellar ataxia type 38"
},
{
"code": "423306",
"display": "Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome"
},
{
"code": "423384",
"display": "Severe congenital neutropenia due to JAGN1 deficiency"
},
{
"code": "423454",
"display": "Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome"
},
{
"code": "423461",
"display": "Mucolipidosis type III alpha/beta"
},
{
"code": "423470",
"display": "Mucolipidosis type III gamma"
},
{
"code": "423479",
"display": "X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency"
},
{
"code": "423693",
"display": "Double outlet right ventricle with subaortic or doubly committed ventricular septal defect"
},
{
"code": "423712",
"display": "Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy"
},
{
"code": "423717",
"display": "Cutaneous larva migrans"
},
{
"code": "423786",
"display": "Undifferentiated carcinoma of stomach"
},
{
"code": "423894",
"display": "Microcephaly-complex motor and sensory axonal neuropathy syndrome"
},
{
"code": "423968",
"display": "Squamous cell carcinoma of the small intestine"
},
{
"code": "423994",
"display": "Squamous cell carcinoma of the colon"
},
{
"code": "424002",
"display": "Squamous cell carcinoma of the rectum"
},
{
"code": "424016",
"display": "Adenocarcinoma of the anal canal"
},
{
"code": "424019",
"display": "Squamous cell carcinoma of the anal canal"
},
{
"code": "424027",
"display": "Progressive myoclonic epilepsy type 8"
},
{
"code": "424039",
"display": "Squamous cell carcinoma of pancreas"
},
{
"code": "424046",
"display": "Acinar cell carcinoma of pancreas"
},
{
"code": "424053",
"display": "Mucinous cystadenocarcinoma of the pancreas"
},
{
"code": "424058",
"display": "Intraductal papillary mucinous carcinoma of pancreas"
},
{
"code": "424065",
"display": "Solid pseudopapillary carcinoma of pancreas"
},
{
"code": "424073",
"display": "Serous cystadenocarcinoma of pancreas"
},
{
"code": "424080",
"display": "Undifferentiated carcinoma with osteoclast-like giant cells of pancreas"
},
{
"code": "424099",
"display": "Colobomatous microphthalmia-rhizomelic dysplasia syndrome"
},
{
"code": "424107",
"display": "Congenital myopathy with myasthenic-like onset"
},
{
"code": "424261",
"display": "TOR1AIP1-related limb-girdle muscular dystrophy"
},
{
"code": "424943",
"display": "Adenocarcinoma of the liver and intrahepatic biliary tract"
},
{
"code": "424970",
"display": "Undifferentiated carcinoma of liver and intrahepatic biliary tract"
},
{
"code": "424975",
"display": "Squamous cell carcinoma of liver and intrahepatic biliary tract"
},
{
"code": "424982",
"display": "Biliary cystadenocarcinoma"
},
{
"code": "424991",
"display": "Adenocarcinoma of the gallbladder and extrahepatic biliary tract"
},
{
"code": "424996",
"display": "Squamous cell carcinoma of gallbladder and extrahepatic biliary tract"
},
{
"code": "425120",
"display": "STING-associated vasculopathy with onset in infancy"
},
{
"code": "431140",
"display": "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome"
},
{
"code": "431149",
"display": "Combined immunodeficiency due to OX40 deficiency"
},
{
"code": "431166",
"display": "Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection"
},
{
"code": "431255",
"display": "Scapuloperoneal spinal muscular atrophy"
},
{
"code": "431272",
"display": "X-linked scapuloperoneal muscular dystrophy"
},
{
"code": "431329",
"display": "Autosomal recessive spastic paraplegia type 57"
},
{
"code": "431341",
"display": "Patent urachus"
},
{
"code": "431344",
"display": "Urachal sinus"
},
{
"code": "431347",
"display": "Urachal diverticulum"
},
{
"code": "431361",
"display": "Progressive encephalopathy with leukodystrophy due to DECR deficiency"
},
{
"code": "434179",
"display": "Orofaciodigital syndrome type 14"
},
{
"code": "435329",
"display": "Familial ossifying fibroma"
},
{
"code": "435372",
"display": "Anterior urethral valve"
},
{
"code": "435387",
"display": "Autosomal dominant Charcot-Marie-Tooth disease type 2Y"
},
{
"code": "435438",
"display": "Progressive myoclonic epilepsy type 7"
},
{
"code": "435628",
"display": "Keppen-Lubinsky syndrome"
},
{
"code": "435638",
"display": "3p25.3 microdeletion syndrome"
},
{
"code": "435651",
"display": "CIDEC-related familial partial lipodystrophy"
},
{
"code": "435660",
"display": "LIPE-related familial partial lipodystrophy"
},
{
"code": "435804",
"display": "Short stature-advanced bone age-early-onset osteoarthritis syndrome"
},
{
"code": "435819",
"display": "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation"
},
{
"code": "435845",
"display": "Lethal neonatal spasticity-epileptic encephalopathy syndrome"
},
{
"code": "435930",
"display": "Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome"
},
{
"code": "435934",
"display": "COG2-CDG"
},
{
"code": "435938",
"display": "X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome"
},
{
"code": "435953",
"display": "Progeroid features-hepatocellular carcinoma predisposition syndrome"
},
{
"code": "435988",
"display": "Chronic atrial and intestinal dysrhythmia syndrome"
},
{
"code": "435998",
"display": "Autosomal recessive intermediate Charcot-Marie-Tooth disease type D"
},
{
"code": "436003",
"display": "Contractures-developmental delay-Pierre Robin syndrome"
},
{
"code": "436141",
"display": "HIDEA syndrome"
},
{
"code": "436144",
"display": "Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome"
},
{
"code": "436151",
"display": "Intellectual disability-expressive aphasia-facial dysmorphism syndrome"
},
{
"code": "436159",
"display": "Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency"
},
{
"code": "436166",
"display": "Periodic fever-infantile enterocolitis-autoinflammatory syndrome"
},
{
"code": "436169",
"display": "Thrombomodulin-related bleeding disorder"
},
{
"code": "436174",
"display": "Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome"
},
{
"code": "436182",
"display": "Microcephalic primordial dwarfism-insulin resistance syndrome"
},
{
"code": "436242",
"display": "Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease"
},
{
"code": "436245",
"display": "Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome"
},
{
"code": "436252",
"display": "Combined immunodeficiency-enteropathy spectrum"
},
{
"code": "436271",
"display": "Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy"
},
{
"code": "436274",
"display": "Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa"
},
{
"code": "437552",
"display": "Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity"
},
{
"code": "438075",
"display": "Ketoacidosis due to monocarboxylate transporter-1 deficiency"
},
{
"code": "438114",
"display": "RARS-related autosomal recessive hypomyelinating leukodystrophy"
},
{
"code": "438117",
"display": "Steel syndrome"
},
{
"code": "438134",
"display": "PCNA-related progressive neurodegenerative photosensitivity syndrome"
},
{
"code": "438159",
"display": "STAT3-related early-onset multisystem autoimmune disease"
},
{
"code": "438178",
"display": "Fatty acyl-CoA reductase 1 deficiency"
},
{
"code": "438207",
"display": "Severe autosomal recessive macrothrombocytopenia"
},
{
"code": "438213",
"display": "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome"
},
{
"code": "438216",
"display": "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation"
},
{
"code": "438266",
"display": "Progressive encephalomyelitis with rigidity and myoclonus"
},
{
"code": "438274",
"display": "GCGR-related hyperglucagonemia"
},
{
"code": "438279",
"display": "Human infection by orthopoxvirus"
},
{
"code": "439167",
"display": "Placental insufficiency"
},
{
"code": "439175",
"display": "Pediatric arterial ischemic stroke"
},
{
"code": "439196",
"display": "Zinc-responsive necrolytic acral erythema"
},
{
"code": "439202",
"display": "Non-recovering obstetric brachial plexus lesion"
},
{
"code": "439212",
"display": "Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome"
},
{
"code": "439218",
"display": "KCNQ2-related epileptic encephalopathy"
},
{
"code": "439224",
"display": "ALECT2 amyloidosis"
},
{
"code": "439232",
"display": "AApoAIV amyloidosis"
},
{
"code": "439254",
"display": "ITM2B amyloidosis"
},
{
"code": "439729",
"display": "Cutaneous polyarteritis nodosa"
},
{
"code": "439737",
"display": "Primary polyarteritis nodosa"
},
{
"code": "439746",
"display": "Secondary polyarteritis nodosa"
},
{
"code": "439755",
"display": "Single-organ polyarteritis nodosa"
},
{
"code": "439762",
"display": "Systemic polyarteritis nodosa"
},
{
"code": "439822",
"display": "PDE4D haploinsufficiency syndrome"
},
{
"code": "439854",
"display": "Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease"
},
{
"code": "439881",
"display": "Plastic bronchitis"
},
{
"code": "439897",
"display": "Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome"
},
{
"code": "440221",
"display": "Congenital oculomotor nerve palsy"
},
{
"code": "440233",
"display": "Congenital abducens nerve palsy"
},
{
"code": "440354",
"display": "Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome"
},
{
"code": "440368",
"display": "Necrotizing soft tissue infection"
},
{
"code": "440392",
"display": "Interstitial lung disease due to SP-C deficiency"
},
{
"code": "440402",
"display": "Interstitial lung disease due to ABCA3 deficiency"
},
{
"code": "440427",
"display": "Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency"
},
{
"code": "440437",
"display": "Familial colorectal cancer Type X"
},
{
"code": "440706",
"display": "Ribose-5-P isomerase deficiency"
},
{
"code": "440713",
"display": "Isolated sedoheptulokinase deficiency"
},
{
"code": "440724",
"display": "Extensive peripapillary myelinated nerve fibers"
},
{
"code": "440727",
"display": "Combined hamartoma of the retina and retinal pigment epithelium"
},
{
"code": "440731",
"display": "L-ferritin deficiency"
},
{
"code": "440987",
"display": "Isolated agenesis of gallbladder"
},
{
"code": "441447",
"display": "Early-onset posterior subcapsular cataract"
},
{
"code": "441452",
"display": "Early-onset lamellar cataract"
},
{
"code": "442582",
"display": "AH amyloidosis"
},
{
"code": "442835",
"display": "Non-specific early-onset epileptic encephalopathy"
},
{
"code": "443057",
"display": "Sporadic porphyria cutanea tarda"
},
{
"code": "443062",
"display": "Familial porphyria cutanea tarda"
},
{
"code": "443070",
"display": "Hemicrania continua"
},
{
"code": "443073",
"display": "Charcot-Marie-Tooth disease type 2S"
},
{
"code": "443079",
"display": "Central serous chorioretinopathy"
},
{
"code": "443084",
"display": "Baroreflex failure"
},
{
"code": "443087",
"display": "46,XY difference of sex development due to testicular 17,20-desmolase deficiency"
},
{
"code": "443098",
"display": "Hyperostosis cranialis interna"
},
{
"code": "443101",
"display": "Hypothalamic adipsic hypernatraemia syndrome"
},
{
"code": "443159",
"display": "Lymphoplasmacytic lymphoma without IgM production"
},
{
"code": "443162",
"display": "NDE1-related microhydranencephaly"
},
{
"code": "443167",
"display": "NUT midline carcinoma"
},
{
"code": "443173",
"display": "Postpartum psychosis"
},
{
"code": "443180",
"display": "Spontaneous intracranial hypotension"
},
{
"code": "443192",
"display": "Classic stiff person syndrome"
},
{
"code": "443197",
"display": "X-linked erythropoietic protoporphyria"
},
{
"code": "443227",
"display": "Paratyphoid fever"
},
{
"code": "443236",
"display": "Postural orthostatic tachycardia syndrome due to NET deficiency"
},
{
"code": "443291",
"display": "HIV-associated cancer"
},
{
"code": "443804",
"display": "Focal stiff limb syndrome"
},
{
"code": "443811",
"display": "PGM3-CDG"
},
{
"code": "443950",
"display": "DNAJB2-related Charcot-Marie-Tooth disease type 2"
},
{
"code": "443988",
"display": "Ventriculomegaly-cystic kidney disease"
},
{
"code": "443995",
"display": "Mandibulofacial dysostosis with alopecia"
},
{
"code": "444002",
"display": "11q22.2q22.3 microdeletion syndrome"
},
{
"code": "444013",
"display": "Combined oxidative phosphorylation defect type 23"
},
{
"code": "444048",
"display": "46,XX ovarian dysgenesis-short stature syndrome"
},
{
"code": "444051",
"display": "20q11.2 microdeletion syndrome"
},
{
"code": "444069",
"display": "Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome"
},
{
"code": "444072",
"display": "Cerebellar-facial-dental syndrome"
},
{
"code": "444077",
"display": "Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome"
},
{
"code": "444092",
"display": "Autoimmune interstitial lung disease-arthritis syndrome"
},
{
"code": "444099",
"display": "Autosomal dominant spastic paraplegia type 73"
},
{
"code": "444138",
"display": "Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome"
},
{
"code": "444316",
"display": "Idiopathic phalangeal acro-osteolysis"
},
{
"code": "444458",
"display": "Combined oxidative phosphorylation defect type 24"
},
{
"code": "444463",
"display": "Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency"
},
{
"code": "444490",
"display": "Familial chylomicronemia syndrome"
},
{
"code": "445018",
"display": "Combined immunodeficiency due to LRBA deficiency"
},
{
"code": "445038",
"display": "3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome"
},
{
"code": "445062",
"display": "Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome"
},
{
"code": "445110",
"display": "Limb-girdle muscular dystrophy due to POMK deficiency"
},
{
"code": "447731",
"display": "NIK deficiency"
},
{
"code": "447737",
"display": "Combined immunodeficiency due to DOCK2 deficiency"
},
{
"code": "447740",
"display": "Susceptibility to localized juvenile periodontitis"
},
{
"code": "447753",
"display": "Autosomal dominant spastic paraplegia type 9A"
},
{
"code": "447757",
"display": "Autosomal dominant spastic paraplegia type 9B"
},
{
"code": "447760",
"display": "Autosomal recessive spastic paraplegia type 9B"
},
{
"code": "447764",
"display": "IgG4-related sclerosing cholangitis"
},
{
"code": "447774",
"display": "Secondary sclerosing cholangitis"
},
{
"code": "447777",
"display": "Keratocystic odontogenic tumor"
},
{
"code": "447784",
"display": "Mitochondrial pyruvate carrier deficiency"
},
{
"code": "447788",
"display": "Cerebral visual impairment"
},
{
"code": "447795",
"display": "Lipoyl transferase 2 deficiency"
},
{
"code": "447877",
"display": "Polymerase proofreading-related adenomatous polyposis"
},
{
"code": "447881",
"display": "Idiopathic dropped head syndrome"
},
{
"code": "447893",
"display": "Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome"
},
{
"code": "447896",
"display": "Tremor-ataxia-central hypomyelination syndrome"
},
{
"code": "447954",
"display": "Combined oxidative phosphorylation defect type 25"
},
{
"code": "447961",
"display": "Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome"
},
{
"code": "447964",
"display": "Autosomal dominant Charcot-Marie-Tooth disease type 2V"
},
{
"code": "447974",
"display": "Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome"
},
{
"code": "447977",
"display": "Progressive scapulohumeroperoneal distal myopathy"
},
{
"code": "447980",
"display": "19p13.3 microduplication syndrome"
},
{
"code": "447997",
"display": "Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome"
},
{
"code": "448010",
"display": "CAD-CDG"
},
{
"code": "448237",
"display": "Zika virus disease"
},
{
"code": "448242",
"display": "Autosomal recessive brachyolmia"
},
{
"code": "448251",
"display": "Progressive autosomal recessive ataxia-deafness syndrome"
},
{
"code": "448264",
"display": "Isolated focal non-epidermolytic palmoplantar keratoderma"
},
{
"code": "448267",
"display": "Regressive spondylometaphyseal dysplasia"
},
{
"code": "448270",
"display": "Ectopia cordis"
},
{
"code": "449266",
"display": "Pleural empyema"
},
{
"code": "449280",
"display": "Scedosporiosis"
},
{
"code": "449285",
"display": "Snakebite envenomation"
},
{
"code": "449291",
"display": "Symptomatic form of fragile X syndrome in female carriers"
},
{
"code": "449395",
"display": "IgG4-related kidney disease"
},
{
"code": "449400",
"display": "IgG4-related aortitis"
},
{
"code": "449427",
"display": "IgG4-related pachymeningitis"
},
{
"code": "449432",
"display": "IgG4-related submandibular gland disease"
},
{
"code": "449563",
"display": "IgG4-related ophthalmic disease"
},
{
"code": "449566",
"display": "Eosinophilic angiocentric fibrosis"
},
{
"code": "450322",
"display": "Polyclonal hyperviscosity syndrome"
},
{
"code": "451602",
"display": "Primary cutaneous plasmacytosis"
},
{
"code": "451607",
"display": "Cutaneous pseudolymphoma"
},
{
"code": "451612",
"display": "Familial congenital nasolacrimal duct obstruction"
},
{
"code": "453499",
"display": "Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome"
},
{
"code": "453504",
"display": "Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation"
},
{
"code": "453510",
"display": "Congenital insensitivity to pain with severe intellectual disability"
},
{
"code": "453521",
"display": "Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency"
},
{
"code": "453533",
"display": "Polyendocrine-polyneuropathy syndrome"
},
{
"code": "454706",
"display": "Progressive muscular atrophy"
},
{
"code": "454710",
"display": "Anti-p200 pemphigoid"
},
{
"code": "454714",
"display": "Plasma cell leukemia"
},
{
"code": "454718",
"display": "Holmes-Adie syndrome"
},
{
"code": "454723",
"display": "Endometrioid carcinoma of ovary"
},
{
"code": "454742",
"display": "Variably protease-sensitive prionopathy"
},
{
"code": "454745",
"display": "Kuru"
},
{
"code": "454750",
"display": "Isolated tracheoesophageal fistula"
},
{
"code": "454821",
"display": "Pleomorphic salivary gland adenoma"
},
{
"code": "454831",
"display": "Acute radiation syndrome"
},
{
"code": "454836",
"display": "Avian influenza"
},
{
"code": "454840",
"display": "NTHL1-related attenuated familial adenomatous polyposis"
},
{
"code": "454887",
"display": "Corticobasal syndrome"
},
{
"code": "456298",
"display": "1p35.2 microdeletion syndrome"
},
{
"code": "456312",
"display": "Infantile multisystem neurologic-endocrine-pancreatic disease"
},
{
"code": "456318",
"display": "Hereditary sensory neuropathy-deafness-dementia syndrome"
},
{
"code": "456328",
"display": "X-linked myotubular myopathy-abnormal genitalia syndrome"
},
{
"code": "456333",
"display": "Hereditary neuroendocrine tumor of small intestine"
},
{
"code": "456369",
"display": "Polyglucosan body myopathy type 2"
},
{
"code": "457050",
"display": "Autosomal dominant mitochondrial myopathy with exercise intolerance"
},
{
"code": "457077",
"display": "TAFRO syndrome"
},
{
"code": "457083",
"display": "Isolated splenogonadal fusion"
},
{
"code": "457088",
"display": "Predisposition to invasive fungal disease due to CARD9 deficiency"
},
{
"code": "457095",
"display": "Actinomycosis"
},
{
"code": "457185",
"display": "Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome"
},
{
"code": "457193",
"display": "Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome"
},
{
"code": "457205",
"display": "Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome"
},
{
"code": "457212",
"display": "Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome"
},
{
"code": "457223",
"display": "Syndromic sensorineural deafness due to combined oxidative phosphorylation defect"
},
{
"code": "457240",
"display": "X-linked intellectual disability-short stature-overweight syndrome"
},
{
"code": "457246",
"display": "Clear cell sarcoma of kidney"
},
{
"code": "457260",
"display": "X-linked intellectual disability-hypotonia-movement disorder syndrome"
},
{
"code": "457265",
"display": "Progressive myoclonic epilepsy type 9"
},
{
"code": "457279",
"display": "Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome"
},
{
"code": "457284",
"display": "Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome"
},
{
"code": "457351",
"display": "Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome"
},
{
"code": "457359",
"display": "Megalencephaly-severe kyphoscoliosis-overgrowth syndrome"
},
{
"code": "457365",
"display": "Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome"
},
{
"code": "457375",
"display": "ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement"
},
{
"code": "457378",
"display": "Complex lethal osteochondrodysplasia"
},
{
"code": "457395",
"display": "Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome"
},
{
"code": "457406",
"display": "Multiple mitochondrial dysfunctions syndrome type 4"
},
{
"code": "457485",
"display": "Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome"
},
{
"code": "458718",
"display": "Idiopathic spontaneous coronary artery dissection"
},
{
"code": "458758",
"display": "Composite hemangioendothelioma"
},
{
"code": "458763",
"display": "Retiform hemangioendothelioma"
},
{
"code": "458768",
"display": "Papillary intralymphatic angioendothelioma"
},
{
"code": "458785",
"display": "Partially involuting congenital hemangioma"
},
{
"code": "458792",
"display": "Mixed cystic lymphatic malformation"
},
{
"code": "458798",
"display": "Spinocerebellar ataxia type 41"
},
{
"code": "458803",
"display": "Spinocerebellar ataxia type 42"
},
{
"code": "459033",
"display": "Ataxia-oculomotor apraxia type 4"
},
{
"code": "459051",
"display": "Spondyloepiphyseal dysplasia, Stanescu type"
},
{
"code": "459056",
"display": "Autosomal recessive spastic paraplegia type 75"
},
{
"code": "459061",
"display": "Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome"
},
{
"code": "459070",
"display": "X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome"
},
{
"code": "459074",
"display": "Corpus callosum agenesis-macrocephaly-hypertelorism syndrome"
},
{
"code": "464282",
"display": "Spastic paraplegia-severe developmental delay-epilepsy syndrome"
},
{
"code": "464288",
"display": "Short stature-brachydactyly-obesity-global developmental delay syndrome"
},
{
"code": "464306",
"display": "DYRK1A-related intellectual disability syndrome"
},
{
"code": "464311",
"display": "Intellectual disability syndrome due to a DYRK1A point mutation"
},
{
"code": "464318",
"display": "Verrucous hemangioma"
},
{
"code": "464321",
"display": "Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome"
},
{
"code": "464329",
"display": "Kaposiform lymphangiomatosis"
},
{
"code": "464336",
"display": "BENTA disease"
},
{
"code": "464343",
"display": "Catastrophic antiphospholipid syndrome"
},
{
"code": "464359",
"display": "Benign metanephric tumor"
},
{
"code": "464366",
"display": "NEK9-related lethal skeletal dysplasia"
},
{
"code": "464370",
"display": "Neonatal alloimmune neutropenia"
},
{
"code": "464440",
"display": "Primary dystonia, DYT27 type"
},
{
"code": "464443",
"display": "COG6-CGD"
},
{
"code": "464453",
"display": "Acquired methemoglobinemia"
},
{
"code": "464458",
"display": "Paracetamol poisoning"
},
{
"code": "464724",
"display": "Fever-associated acute infantile liver failure syndrome"
},
{
"code": "464738",
"display": "Basel-Vanagaite-Smirin-Yosef syndrome"
},
{
"code": "464756",
"display": "Familial gastric type 1 neuroendocrine tumor"
},
{
"code": "464760",
"display": "Familial cavitary optic disc anomaly"
},
{
"code": "465508",
"display": "Symptomatic form of HFE-related hemochromatosis"
},
{
"code": "465824",
"display": "Fetal encasement syndrome"
},
{
"code": "466026",
"display": "Class I glucose-6-phosphate dehydrogenase deficiency"
},
{
"code": "466650",
"display": "Exercise-induced malignant hyperthermia"
},
{
"code": "466670",
"display": "Cyanide poisoning"
},
{
"code": "466677",
"display": "Scorpion envenomation"
},
{
"code": "466682",
"display": "Euthyroid Graves orbitopathy"
},
{
"code": "466688",
"display": "Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome"
},
{
"code": "466695",
"display": "Supratip dysplasia"
},
{
"code": "466703",
"display": "TMEM199-CDG"
},
{
"code": "466718",
"display": "Martinique crinkled retinal pigment epitheliopathy"
},
{
"code": "466722",
"display": "Autosomal recessive spastic paraplegia type 77"
},
{
"code": "466729",
"display": "Familial patent arterial duct"
},
{
"code": "466768",
"display": "Autosomal dominant Charcot-Marie-Tooth disease type 2Z"
},
{
"code": "466775",
"display": "Autosomal recessive Charcot-Marie-Tooth disease type 2X"
},
{
"code": "466784",
"display": "Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect"
},
{
"code": "466791",
"display": "Macrocephaly-intellectual disability-left ventricular non compaction syndrome"
},
{
"code": "466794",
"display": "Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome"
},
{
"code": "466806",
"display": "Autosomal dominant thrombocytopenia with platelet secretion defect"
},
{
"code": "466921",
"display": "Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome"
},
{
"code": "466926",
"display": "Seizures-scoliosis-macrocephaly syndrome"
},
{
"code": "466934",
"display": "VPS11-related autosomal recessive hypomyelinating leukodystrophy"
},
{
"code": "466943",
"display": "WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome"
},
{
"code": "466950",
"display": "Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation"
},
{
"code": "466962",
"display": "SMARCA4-deficient sarcoma of thorax"
},
{
"code": "467166",
"display": "Tubulinopathy-associated dysgyria"
},
{
"code": "467176",
"display": "Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome"
},
{
"code": "468620",
"display": "Intellectual disability-epilepsy-extrapyramidal syndrome"
},
{
"code": "468631",
"display": "Microcephalic cortical malformations-short stature due to RTTN deficiency"
},
{
"code": "468635",
"display": "Cryptogenic multifocal ulcerous stenosing enteritis"
},
{
"code": "468641",
"display": "Chronic enteropathy associated with SLCO2A1 gene"
},
{
"code": "468661",
"display": "Autosomal recessive spastic paraplegia type 74"
},
{
"code": "468666",
"display": "Isolated generalized anhidrosis with normal sweat glands"
},
{
"code": "468672",
"display": "Colobomatous macrophthalmia-microcornea syndrome"
},
{
"code": "468678",
"display": "White-Sutton syndrome"
},
{
"code": "468684",
"display": "CCDC115-CDG"
},
{
"code": "468699",
"display": "SLC39A8-CDG"
},
{
"code": "468717",
"display": "Rhizomelic chondrodysplasia punctata type 5"
},
{
"code": "468726",
"display": "Severe primary trimethylaminuria"
},
{
"code": "476084",
"display": "BVES-related limb-girdle muscular dystrophy"
},
{
"code": "476093",
"display": "Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome"
},
{
"code": "476096",
"display": "Erythrokeratodermia-cardiomyopathy syndrome"
},
{
"code": "476113",
"display": "Combined immunodeficiency due to TFRC deficiency"
},
{
"code": "476119",
"display": "Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome"
},
{
"code": "476126",
"display": "Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome"
},
{
"code": "476394",
"display": "PMP2-related Charcot-Marie-Tooth disease type 1"
},
{
"code": "476406",
"display": "Congenital generalized hypercontractile muscle stiffness syndrome"
},
{
"code": "477650",
"display": "Fibroblastic rheumatism"
},
{
"code": "477661",
"display": "IL21-related infantile inflammatory bowel disease"
},
{
"code": "477673",
"display": "Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome"
},
{
"code": "477684",
"display": "Combined oxidative phosphorylation defect type 26"
},
{
"code": "477738",
"display": "Pediatric multiple sclerosis"
},
{
"code": "477742",
"display": "Nodular fasciitis"
},
{
"code": "477749",
"display": "Pontine autosomal dominant microangiopathy with leukoencephalopathy"
},
{
"code": "477774",
"display": "Combined oxidative phosphorylation defect type 27"
},
{
"code": "477781",
"display": "Primary condylar hyperplasia"
},
{
"code": "477787",
"display": "Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder"
},
{
"code": "477814",
"display": "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome"
},
{
"code": "477817",
"display": "PMP22-RAI1 contiguous gene duplication syndrome"
},
{
"code": "477831",
"display": "Kosaki overgrowth syndrome"
},
{
"code": "477857",
"display": "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency"
},
{
"code": "477993",
"display": "Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome"
},
{
"code": "478029",
"display": "Combined oxidative phosphorylation defect type 29"
},
{
"code": "478042",
"display": "Combined oxidative phosphorylation defect type 30"
},
{
"code": "478049",
"display": "Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome"
},
{
"code": "478664",
"display": "Hereditary sensory and autonomic neuropathy type 8"
},
{
"code": "480476",
"display": "Progressive familial intrahepatic cholestasis type 5"
},
{
"code": "480483",
"display": "Progressive familial intrahepatic cholestasis type 4"
},
{
"code": "480491",
"display": "MYO5B-related progressive familial intrahepatic cholestasis"
},
{
"code": "480501",
"display": "Choledochal cyst"
},
{
"code": "480506",
"display": "Primary intrahepatic lithiasis"
},
{
"code": "480512",
"display": "Idiopathic ductopenia"
},
{
"code": "480520",
"display": "Caroli syndrome"
},
{
"code": "480524",
"display": "Idiopathic peliosis hepatis"
},
{
"code": "480528",
"display": "Lethal hydranencephaly-diaphragmatic hernia syndrome"
},
{
"code": "480531",
"display": "Congenital portosystemic shunt"
},
{
"code": "480536",
"display": "MSH3-related attenuated familial adenomatous polyposis"
},
{
"code": "480541",
"display": "High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement"
},
{
"code": "480553",
"display": "Aneurysmal bone cyst"
},
{
"code": "480556",
"display": "Isolated neonatal sclerosing cholangitis"
},
{
"code": "480682",
"display": "POGLUT1-related limb-girdle muscular dystrophy R21"
},
{
"code": "480701",
"display": "Facial diplegia with paresthesias"
},
{
"code": "480851",
"display": "Hereditary thrombocytopenia with early-onset myelofibrosis"
},
{
"code": "480864",
"display": "Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome"
},
{
"code": "480880",
"display": "X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability"
},
{
"code": "480898",
"display": "Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome"
},
{
"code": "480907",
"display": "X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome"
},
{
"code": "481152",
"display": "PYCR2-related microcephaly-progressive leukoencephalopathy"
},
{
"code": "481662",
"display": "Familial Chilblain lupus"
},
{
"code": "481665",
"display": "USP18 deficiency"
},
{
"code": "481986",
"display": "Familial schizencephaly"
},
{
"code": "482077",
"display": "HTRA1-related autosomal dominant cerebral small vessel disease"
},
{
"code": "482601",
"display": "Adenylosuccinate synthetase-like 1-related distal myopathy"
},
{
"code": "482606",
"display": "X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome"
},
{
"code": "485275",
"display": "Acquired schizencephaly"
},
{
"code": "485350",
"display": "CLCN4-related X-linked intellectual disability syndrome"
},
{
"code": "485358",
"display": "Propylthiouracil embryofetopathy"
},
{
"code": "485405",
"display": "16p12.1p12.3 triplication syndrome"
},
{
"code": "485418",
"display": "EMILIN-1-related connective tissue disease"
},
{
"code": "485421",
"display": "MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect"
},
{
"code": "485426",
"display": "Isolated congenital hepatic fibrosis"
},
{
"code": "486811",
"display": "Prenatal-onset spinal muscular atrophy with congenital bone fractures"
},
{
"code": "486815",
"display": "Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome"
},
{
"code": "487796",
"display": "Takenouchi-Kosaki syndrome"
},
{
"code": "487809",
"display": "Pediatric collagenous gastritis"
},
{
"code": "487814",
"display": "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation"
},
{
"code": "487825",
"display": "Pierpont syndrome"
},
{
"code": "488168",
"display": "Microcephaly-congenital cataract-psoriasiform dermatitis syndrome"
},
{
"code": "488191",
"display": "Female infertility due to oocyte meiotic arrest"
},
{
"code": "488197",
"display": "Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome"
},
{
"code": "488232",
"display": "Split-foot malformation-mesoaxial polydactyly syndrome"
},
{
"code": "488239",
"display": "Acute macular neuroretinopathy"
},
{
"code": "488265",
"display": "Osteofibrous dysplasia"
},
{
"code": "488280",
"display": "14q32 duplication syndrome"
},
{
"code": "488333",
"display": "Autosomal dominant Charcot-Marie-Tooth disease type 2W"
},
{
"code": "488434",
"display": "Camptodactyly syndrome, Guadalajara type 3"
},
{
"code": "488437",
"display": "SIX2-related frontonasal dysplasia"
},
{
"code": "488586",
"display": "Congenital amyoplasia"
},
{
"code": "488594",
"display": "Autosomal recessive spastic paraplegia type 76"
},
{
"code": "488613",
"display": "Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome"
},
{
"code": "488618",
"display": "Transketolase deficiency"
},
{
"code": "488627",
"display": "Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome"
},
{
"code": "488632",
"display": "TBCK-related intellectual disability syndrome"
},
{
"code": "488635",
"display": "Early-onset epilepsy-intellectual disability-brain anomalies syndrome"
},
{
"code": "488642",
"display": "TELO2-related intellectual disability-neurodevelopmental disorder"
},
{
"code": "488647",
"display": "DDX41-related hematologic malignancy predisposition syndrome"
},
{
"code": "488650",
"display": "Distal myopathy, Tateyama type"
},
{
"code": "493342",
"display": "Vibratory urticaria"
},
{
"code": "494344",
"display": "RERE-related neurodevelopmental syndrome"
},
{
"code": "494418",
"display": "Vulvar carcinoma"
},
{
"code": "494421",
"display": "Sacrococcygeal teratoma"
},
{
"code": "494424",
"display": "Extracranial carotid artery aneurysm"
},
{
"code": "494428",
"display": "Idiopathic pleuroparenchymal fibroelastosis"
},
{
"code": "494433",
"display": "MIRAGE syndrome"
},
{
"code": "494439",
"display": "Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome"
},
{
"code": "494444",
"display": "DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome"
},
{
"code": "494448",
"display": "Vulvar squamous cell carcinoma"
},
{
"code": "494451",
"display": "Vulvar basal cell carcinoma"
},
{
"code": "494454",
"display": "Vulvar adenocarcinoma"
},
{
"code": "494526",
"display": "Infantile-onset generalized dyskinesia with orofacial involvement"
},
{
"code": "494541",
"display": "Childhood-onset benign chorea with striatal involvement"
},
{
"code": "494547",
"display": "Squamous cell carcinoma of the hypopharynx"
},
{
"code": "494550",
"display": "Squamous cell carcinoma of the larynx"
},
{
"code": "495274",
"display": "Charcot-Marie-Tooth disease type 2T"
},
{
"code": "495818",
"display": "9q33.3q34.11 microdeletion syndrome"
},
{
"code": "495844",
"display": "C11ORF73-related autosomal recessive hypomyelinating leukodystrophy"
},
{
"code": "495875",
"display": "Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome"
},
{
"code": "495879",
"display": "Congenital agenesis of the scrotum"
},
{
"code": "495930",
"display": "Familial monosomy 7 syndrome"
},
{
"code": "496641",
"display": "Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome"
},
{
"code": "496686",
"display": "Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome"
},
{
"code": "496689",
"display": "Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome"
},
{
"code": "496693",
"display": "Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome"
},
{
"code": "496751",
"display": "EVEN-plus syndrome"
},
{
"code": "496756",
"display": "Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome"
},
{
"code": "496790",
"display": "Ocular anomalies-axonal neuropathy-developmental delay syndrome"
},
{
"code": "497188",
"display": "Diffuse intrinsic pontine glioma"
},
{
"code": "497737",
"display": "Epidermolytic nevus"
},
{
"code": "497757",
"display": "MME-related autosomal dominant Charcot Marie Tooth disease type 2"
},
{
"code": "497764",
"display": "Spinocerebellar ataxia type 43"
},
{
"code": "497906",
"display": "Childhood-onset basal ganglia degeneration syndrome"
},
{
"code": "498228",
"display": "Phyllodes tumor of the prostate"
},
{
"code": "498251",
"display": "Menstrual cycle-dependent periodic fever"
},
{
"code": "498359",
"display": "Aquagenic palmoplantar keratoderma"
},
{
"code": "498474",
"display": "Hyaline fibromatosis syndrome"
},
{
"code": "498481",
"display": "LRP5-related primary osteoporosis"
},
{
"code": "498485",
"display": "Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome"
},
{
"code": "498488",
"display": "Overgrowth syndrome with 2q37 translocation"
},
{
"code": "498494",
"display": "Mirror-image polydactyly"
},
{
"code": "498497",
"display": "Short rib-polydactyly syndrome type 5"
},
{
"code": "498602",
"display": "Sugarman brachydactyly"
},
{
"code": "498693",
"display": "MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome"
},
{
"code": "499009",
"display": "Congenital syphilis"
},
{
"code": "499085",
"display": "Chronic relapsing inflammatory optic neuritis"
},
{
"code": "499096",
"display": "Isolated optic neuritis"
},
{
"code": "499103",
"display": "Recurrent idiopathic neuroretinitis"
},
{
"code": "499107",
"display": "Idiopathic optic perineuritis"
},
{
"code": "499182",
"display": "Pilomatrix carcinoma"
},
{
"code": "500055",
"display": "Hao-Fountain syndrome due to 16p13.2 microdeletion"
},
{
"code": "500062",
"display": "Infantile-onset periodic fever-panniculitis-dermatosis syndrome"
},
{
"code": "500095",
"display": "Tall stature-intellectual disability-renal anomalies syndrome"
},
{
"code": "500135",
"display": "Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome"
},
{
"code": "500144",
"display": "Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome"
},
{
"code": "500150",
"display": "Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome"
},
{
"code": "500159",
"display": "Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom"
},
{
"code": "500163",
"display": "Witteveen-Kolk syndrome"
},
{
"code": "500166",
"display": "SIN3-related intellectual disability syndrome due to a point mutation"
},
{
"code": "500180",
"display": "Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder"
},
{
"code": "500188",
"display": "X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome"
},
{
"code": "500464",
"display": "Squamous cell carcinoma of the nasal cavity and paranasal sinuses"
},
{
"code": "500478",
"display": "Squamous cell carcinoma of the oropharynx"
},
{
"code": "500481",
"display": "Squamous cell carcinoma of salivary glands"
},
{
"code": "500533",
"display": "Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome"
},
{
"code": "500545",
"display": "Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract"
},
{
"code": "500548",
"display": "Osteosclerotic metaphyseal dysplasia"
},
{
"code": "502305",
"display": "Cochleovestibular malformation"
},
{
"code": "502318",
"display": "Cochlear nerve deficiency"
},
{
"code": "502363",
"display": "Squamous cell carcinoma of the oral cavity"
},
{
"code": "502366",
"display": "Squamous cell carcinoma of the lip"
},
{
"code": "502423",
"display": "Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome"
},
{
"code": "502430",
"display": "Weiss-Kruszka Syndrome"
},
{
"code": "502434",
"display": "STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome"
},
{
"code": "502437",
"display": "4q25 proximal deletion syndrome"
},
{
"code": "502444",
"display": "Alkaline ceramidase 3 deficiency"
},
{
"code": "502499",
"display": "Erythema multiforme major"
},
{
"code": "504476",
"display": "Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome"
},
{
"code": "504523",
"display": "Severe combined immunodeficiency due to LAT deficiency"
},
{
"code": "504530",
"display": "Combined immunodeficiency due to Moesin deficiency"
},
{
"code": "505208",
"display": "3-methylglutaconic aciduria type 8"
},
{
"code": "505216",
"display": "3-methylglutaconic aciduria type 9"
},
{
"code": "505227",
"display": "Combined immunodeficiency due to GINS1 deficiency"
},
{
"code": "505237",
"display": "Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome"
},
{
"code": "505242",
"display": "Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome"
},
{
"code": "505248",
"display": "Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders"
},
{
"code": "505395",
"display": "Ventilator-induced diaphragmatic dysfunction"
},
{
"code": "505652",
"display": "CDKL5-deficiency disorder"
},
{
"code": "506075",
"display": "Non-functioning neuroendocrine tumor of pancreas"
},
{
"code": "506090",
"display": "Serotonin-producing neuroendocrine tumor of pancreas"
},
{
"code": "506098",
"display": "Neuroendocrine carcinoma of pancreas"
},
{
"code": "506112",
"display": "Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas"
},
{
"code": "506136",
"display": "Neuroendocrine neoplasm of esophagus"
},
{
"code": "506307",
"display": "Stromme syndrome"
},
{
"code": "506334",
"display": "Familial steroid-resistant nephrotic syndrome with adrenal insufficiency"
},
{
"code": "506353",
"display": "Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction"
},
{
"code": "506358",
"display": "Gabriele-de Vries syndrome"
},
{
"code": "506784",
"display": "Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome"
},
{
"code": "508093",
"display": "MEPAN syndrome"
},
{
"code": "508410",
"display": "Familial intestinal malrotation"
},
{
"code": "508476",
"display": "Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome"
},
{
"code": "508488",
"display": "8q24.3 microdeletion syndrome"
},
{
"code": "508498",
"display": "Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome"
},
{
"code": "508501",
"display": "Oral-facial-digital syndrome with short stature and brachymesophalangy"
},
{
"code": "508512",
"display": "Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome"
},
{
"code": "508523",
"display": "Hyperphenylalaninemia due to DNAJC12 deficiency"
},
{
"code": "508529",
"display": "Intermediate epidermolysis bullosa simplex with cardiomyopathy"
},
{
"code": "508533",
"display": "Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome"
},
{
"code": "508542",
"display": "Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome"
},
{
"code": "512017",
"display": "Chronic lymphoproliferative disorder of natural killer cells"
},
{
"code": "512103",
"display": "Autosomal recessive epidermolytic ichthyosis"
},
{
"code": "512260",
"display": "Congenital cerebellar ataxia due to RNU12 mutation"
},
{
"code": "513436",
"display": "Autosomal recessive spastic paraplegia type 78"
},
{
"code": "513456",
"display": "Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome"
},
{
"code": "514352",
"display": "Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome"
},
{
"code": "519384",
"display": "Congenital cystic eye"
},
{
"code": "519386",
"display": "Isolated congenital entropion"
},
{
"code": "519388",
"display": "Autosomal recessive anterior segment dysgenesis"
},
{
"code": "519390",
"display": "Isolated blepharochalasis"
},
{
"code": "519392",
"display": "Isolated iridoschisis"
},
{
"code": "519396",
"display": "Isolated microspherophakia"
},
{
"code": "519398",
"display": "Isolated foveal hypoplasia"
},
{
"code": "519400",
"display": "Peripapillary staphyloma"
},
{
"code": "519402",
"display": "Isolated megalopapilla"
},
{
"code": "519404",
"display": "Optic disc pit"
},
{
"code": "519406",
"display": "Thygeson superficial punctate keratitis"
},
{
"code": "519408",
"display": "Mooren ulcer"
},
{
"code": "519410",
"display": "Terrien marginal degeneration"
},
{
"code": "519930",
"display": "Fungal keratitis"
},
{
"code": "521123",
"display": "Radiation-induced plexopathy"
},
{
"code": "521127",
"display": "Osteoradionecrosis of the mandible"
},
{
"code": "521219",
"display": "Mirizzi syndrome"
},
{
"code": "521258",
"display": "Xq25 microduplication syndrome"
},
{
"code": "521305",
"display": "Proximal myopathy with focal depletion of mitochondria"
},
{
"code": "521308",
"display": "Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome"
},
{
"code": "521390",
"display": "Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome"
},
{
"code": "521406",
"display": "Dystonia-parkinsonism-hypermanganesemia syndrome"
},
{
"code": "521411",
"display": "Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect"
},
{
"code": "521414",
"display": "Autosomal dominant Charcot-Marie-Tooth disease type 2DD"
},
{
"code": "521426",
"display": "PLAA-associated neurodevelopmental disorder"
},
{
"code": "521432",
"display": "Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome"
},
{
"code": "521438",
"display": "Congenital vertebral-cardiac-renal anomalies syndrome"
},
{
"code": "521445",
"display": "Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome"
},
{
"code": "521450",
"display": "LAMA5-related multisystemic syndrome"
},
{
"code": "522037",
"display": "Primary autoimmune enteropathy"
},
{
"code": "522077",
"display": "Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome"
},
{
"code": "525731",
"display": "Pediatric-onset Graves disease"
},
{
"code": "525738",
"display": "Prepubertal anorexia nervosa"
},
{
"code": "527276",
"display": "Encephalopathy due to mitochondrial and peroxisomal fission defect"
},
{
"code": "527450",
"display": "Severe myopia-generalized joint laxity-short stature syndrome"
},
{
"code": "527468",
"display": "Diaphragmatic hernia-short bowel-asplenia syndrome"
},
{
"code": "527497",
"display": "NKX6-2-related autosomal recessive hypomyelinating leukodystrophy"
},
{
"code": "528084",
"display": "Non-specific syndromic intellectual disability"
},
{
"code": "528091",
"display": "Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome"
},
{
"code": "528105",
"display": "Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome"
},
{
"code": "528623",
"display": "Hereditary angioedema with C1Inh deficiency"
},
{
"code": "528647",
"display": "Hereditary angioedema with normal C1Inh"
},
{
"code": "528663",
"display": "Acquired angioedema with C1Inh deficiency"
},
{
"code": "529468",
"display": "Monoclonal mast cell activation syndrome"
},
{
"code": "529574",
"display": "Duane retraction syndrome with congenital deafness"
},
{
"code": "529665",
"display": "Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome"
},
{
"code": "529799",
"display": "Acute bilirubin encephalopathy"
},
{
"code": "529808",
"display": "Chronic bilirubin encephalopathy"
},
{
"code": "529831",
"display": "Letrozole toxicity"
},
{
"code": "529852",
"display": "Combined hepatocellular carcinoma and cholangiocarcinoma"
},
{
"code": "529864",
"display": "Secondary erythromelalgia"
},
{
"code": "529962",
"display": "17q24.2 microdeletion syndrome"
},
{
"code": "529965",
"display": "Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome"
},
{
"code": "529970",
"display": "Male infertility due to acephalic spermatozoa"
},
{
"code": "529977",
"display": "Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome"
},
{
"code": "529980",
"display": "Inflammatory bowel disease-recurrent sinopulmonary infections syndrome"
},
{
"code": "530033",
"display": "Dermoid or epidermoid cyst of the central nervous system"
},
{
"code": "530298",
"display": "Progressive myoclonic epilepsy with neuroserpin inclusion bodies"
},
{
"code": "530303",
"display": "Progressive dementia with neuroserpin inclusion bodies"
},
{
"code": "530792",
"display": "RELA fusion-positive ependymoma"
},
{
"code": "530838",
"display": "KRT1-related diffuse nonepidermolytic keratoderma"
},
{
"code": "530849",
"display": "Familial apolipoprotein A5 deficiency"
},
{
"code": "530983",
"display": "Lamb-Shaffer syndrome"
},
{
"code": "530995",
"display": "Mixed phenotype acute leukemia"
},
{
"code": "531151",
"display": "9q21.13 microdeletion syndrome"
},
{
"code": "535453",
"display": "Familial lipase maturation factor 1 deficiency"
},
{
"code": "535458",
"display": "Familial GPIHBP1 deficiency"
},
{
"code": "536467",
"display": "B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome"
},
{
"code": "536471",
"display": "Spondylodysplastic Ehlers-Danlos syndrome"
},
{
"code": "536516",
"display": "Myopathic Ehlers-Danlos syndrome"
},
{
"code": "536532",
"display": "Classical-like Ehlers-Danlos syndrome type 2"
},
{
"code": "536545",
"display": "Kyphoscoliotic Ehlers-Danlos syndrome"
},
{
"code": "537072",
"display": "PLG-related hereditary angioedema with normal C1Inh"
},
{
"code": "538096",
"display": "Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy"
},
{
"code": "538101",
"display": "Congenital axonal neuropathy with encephalopathy"
},
{
"code": "538574",
"display": "Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome"
},
{
"code": "538756",
"display": "Familial multiple discoid fibromas"
},
{
"code": "538863",
"display": "Classic pyoderma gangrenosum"
},
{
"code": "538866",
"display": "Pustular pyoderma gangrenosum"
},
{
"code": "538869",
"display": "Bullous pyoderma gangrenosum"
},
{
"code": "538872",
"display": "Vegetative pyoderma gangrenosum"
},
{
"code": "538931",
"display": "X-linked lymphoproliferative disease due to SAP deficiency"
},
{
"code": "538934",
"display": "X-linked lymphoproliferative disease due to XIAP deficiency"
},
{
"code": "538958",
"display": "Combined immunodeficiency due to CD70 deficiency"
},
{
"code": "538963",
"display": "Combined immunodeficiency due to ITK deficiency"
},
{
"code": "541423",
"display": "Growth delay-intellectual disability-hepatopathy syndrome"
},
{
"code": "541443",
"display": "Anomalous aortic origin of the left coronary artery"
},
{
"code": "541454",
"display": "Anomalous aortic origin of the right coronary artery"
},
{
"code": "541507",
"display": "Anomalous origin of coronary artery from the pulmonary artery"
},
{
"code": "542301",
"display": "Combined immunodeficiency due to CARMIL2 deficiency"
},
{
"code": "542306",
"display": "GNB5-related intellectual disability-cardiac arrhythmia syndrome"
},
{
"code": "542310",
"display": "Leukoencephalopathy with calcifications and cysts"
},
{
"code": "542323",
"display": "CAR T cell therapy-associated cytokine release syndrome"
},
{
"code": "542568",
"display": "Quadricuspid aortic valve"
},
{
"code": "542585",
"display": "Auditory neuropathy-optic atrophy syndrome"
},
{
"code": "542592",
"display": "Necrobiosis lipoidica"
},
{
"code": "542643",
"display": "Livedoid vasculopathy"
},
{
"code": "542657",
"display": "Isolated hyperchlorhidrosis"
},
{
"code": "543470",
"display": "Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome"
},
{
"code": "544254",
"display": "SYNGAP1-related developmental and epileptic encephalopathy"
},
{
"code": "544469",
"display": "PRUNE1-related neurological syndrome"
},
{
"code": "544472",
"display": "Atypical hemolytic uremic syndrome with complement gene abnormality"
},
{
"code": "544482",
"display": "Infection-related hemolytic uremic syndrome"
},
{
"code": "544488",
"display": "Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome"
},
{
"code": "544493",
"display": "Streptococcus pneumoniae-associated hemolytic uremic syndrome"
},
{
"code": "544503",
"display": "RNF13-related severe early-onset epileptic encephalopathy"
},
{
"code": "544578",
"display": "Congenital primary megaureter, refluxing and obstructed form"
},
{
"code": "544602",
"display": "Congenital myopathy with reduced type 2 muscle fibers"
},
{
"code": "544628",
"display": "Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome"
},
{
"code": "555402",
"display": "NAD(P)HX dehydratase deficiency"
},
{
"code": "555407",
"display": "NAD(P)HX epimerase deficiency"
},
{
"code": "555434",
"display": "Fibrohistiocytic inflammatory pseudotumor of the liver"
},
{
"code": "555437",
"display": "Lymphoplasmacytic inflammatory pseudotumor of the liver"
},
{
"code": "555874",
"display": "Congenital tricuspid valve dysplasia"
},
{
"code": "555877",
"display": "FLNA-related X-linked myxomatous valvular dysplasia"
},
{
"code": "555905",
"display": "IgA pemphigus"
},
{
"code": "556030",
"display": "Early-onset familial hypoaldosteronism"
},
{
"code": "556037",
"display": "Late-onset familial hypoaldosteronism"
},
{
"code": "556955",
"display": "Pancreatic agenesis-holoprosencephaly syndrome"
},
{
"code": "556985",
"display": "Early-onset calcifying leukoencephalopathy-skeletal dysplasia"
},
{
"code": "557003",
"display": "Oculoskeletodental syndrome"
},
{
"code": "557056",
"display": "Spastic ataxia-dysarthria due to glutaminase deficiency"
},
{
"code": "557064",
"display": "Neonatal epileptic encephalopathy due to glutaminase deficiency"
},
{
"code": "558411",
"display": "Idiopathic gastroparesis"
},
{
"code": "561854",
"display": "FOXG1 syndrome"
},
{
"code": "562509",
"display": "Heme oxygenase-1 deficiency"
},
{
"code": "562528",
"display": "Congenital limbs-face contractures-hypotonia-developmental delay syndrome"
},
{
"code": "562538",
"display": "Autosomal recessive extra-oral halitosis"
},
{
"code": "562559",
"display": "Anterior maxillary protrusion-strabismus-intellectual disability syndrome"
},
{
"code": "562569",
"display": "TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome"
},
{
"code": "562639",
"display": "Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome"
},
{
"code": "563576",
"display": "Autoimmune hepatitis type 1"
},
{
"code": "563581",
"display": "Autoimmune hepatitis type 2"
},
{
"code": "563589",
"display": "Seronegative autoimmune hepatitis"
},
{
"code": "563609",
"display": "Isolated anencephaly"
},
{
"code": "563612",
"display": "Isolated exencephaly"
},
{
"code": "563666",
"display": "Serous cystadenoma of childhood"
},
{
"code": "563671",
"display": "Mucinous cystadenoma of childhood"
},
{
"code": "563676",
"display": "Seromucinous cystadenoma of childhood"
},
{
"code": "563684",
"display": "Furuncular myiasis due to Dermatobia hominis"
},
{
"code": "563687",
"display": "Furuncular myiasis due to Cordylobia anthropophaga"
},
{
"code": "563690",
"display": "Furuncular myiasis due to Cordylobia rodhaini"
},
{
"code": "563708",
"display": "Syndromic congenital sodium diarrhea"
},
{
"code": "563951",
"display": "Isolated congenital aglossia"
},
{
"code": "563954",
"display": "Isolated congenital hypoglossia"
},
{
"code": "563991",
"display": "Osteochondrosis of the tarsal bone"
},
{
"code": "564003",
"display": "Osteochondrosis of the metatarsal bone"
},
{
"code": "564178",
"display": "Primary hypomagnesemia-refractory seizures-intellectual disability syndrome"
},
{
"code": "565612",
"display": "Primary triglyceride deposit cardiomyovasculopathy"
},
{
"code": "565624",
"display": "Combined oxidative phosphorylation defect type 39"
},
{
"code": "565641",
"display": "Primary desmosis coli"
},
{
"code": "565782",
"display": "Methotrexate toxicity"
},
{
"code": "565788",
"display": "Infantile inflammatory bowel disease with neurological involvement"
},
{
"code": "565837",
"display": "Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23"
},
{
"code": "565858",
"display": "Craniosynostosis-microretrognathia-severe intellectual disability syndrome"
},
{
"code": "565899",
"display": "POMGNT2-related limb-girdle muscular dystrophy R24"
},
{
"code": "565909",
"display": "Calpain-3-related limb-girdle muscular dystrophy D4"
},
{
"code": "566067",
"display": "CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome"
},
{
"code": "566175",
"display": "Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome"
},
{
"code": "566192",
"display": "Congenital autosomal recessive small-platelet thrombocytopenia"
},
{
"code": "566231",
"display": "Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha"
},
{
"code": "566243",
"display": "Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta"
},
{
"code": "566393",
"display": "Acute mast cell leukemia"
},
{
"code": "566396",
"display": "Chronic mast cell leukemia"
},
{
"code": "566841",
"display": "Liver adenomatosis"
},
{
"code": "566847",
"display": "Aprosencephaly/atelencephaly spectrum"
},
{
"code": "566852",
"display": "Atelencephaly"
},
{
"code": "566857",
"display": "Aprosencephaly"
},
{
"code": "566862",
"display": "Left sided atrial isomerism"
},
{
"code": "566943",
"display": "Mueller-Weiss syndrome"
},
{
"code": "567502",
"display": "B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome"
},
{
"code": "567544",
"display": "Idiopathic non-lupus full-house nephropathy"
},
{
"code": "567546",
"display": "Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance"
},
{
"code": "567548",
"display": "Idiopathic steroid-resistant nephrotic syndrome"
},
{
"code": "567550",
"display": "Idiopathic multidrug-resistant nephrotic syndrome"
},
{
"code": "567552",
"display": "Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy"
},
{
"code": "567983",
"display": "Parenteral nutrition-associated cholestasis"
},
{
"code": "568051",
"display": "GJC2-related late-onset primary lymphedema"
},
{
"code": "568056",
"display": "Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome"
},
{
"code": "568062",
"display": "PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis"
},
{
"code": "568065",
"display": "EPHB4-related lymphatic-related hydrops fetalis"
},
{
"code": "569164",
"display": "Angiomatoid fibrous histiocytoma"
},
{
"code": "569248",
"display": "Microcystic stromal tumor"
},
{
"code": "569274",
"display": "Multiple mitochondrial dysfunctions syndrome type 5"
},
{
"code": "569290",
"display": "Multiple mitochondrial dysfunctions syndrome type 6"
},
{
"code": "569816",
"display": "CELSR1-related late-onset primary lymphedema"
},
{
"code": "569821",
"display": "Congenital primary lymphedema of Gordon"
},
{
"code": "570371",
"display": "Bartter syndrome type 5"
},
{
"code": "570422",
"display": "Galactose mutarotase deficiency"
},
{
"code": "570431",
"display": "Idiopathic multicentric Castleman disease"
},
{
"code": "570438",
"display": "HHV-8-associated multicentric Castleman disease"
},
{
"code": "570470",
"display": "Ricin poisoning"
},
{
"code": "570491",
"display": "QRSL1-related combined oxidative phosphorylation defect"
},
{
"code": "570762",
"display": "Infective endocarditis"
},
{
"code": "572013",
"display": "Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome"
},
{
"code": "572333",
"display": "Blepharophimosis-ptosis-epicanthus inversus syndrome plus"
},
{
"code": "572354",
"display": "Blepharophimosis-ptosis-epicanthus inversus syndrome type 1"
},
{
"code": "572361",
"display": "Blepharophimosis-ptosis-epicanthus inversus syndrome type 2"
},
{
"code": "572385",
"display": "Brachydactyly type B1"
},
{
"code": "572428",
"display": "Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia"
},
{
"code": "572543",
"display": "RFVT2-related riboflavin transporter deficiency"
},
{
"code": "572550",
"display": "RFVT3-related riboflavin transporter deficiency"
},
{
"code": "572761",
"display": "DONSON-related microcephaly-short stature-limb abnormalities spectrum"
},
{
"code": "572768",
"display": "Microcephaly-micromelia syndrome"
},
{
"code": "572773",
"display": "Microcephaly-short stature-limb abnormalities syndrome"
},
{
"code": "572798",
"display": "WARS2-related combined oxidative phosphorylation defect"
},
{
"code": "573253",
"display": "Split cord malformation type II"
},
{
"code": "574918",
"display": "Predisposition to severe viral infection due to IRF7 deficiency"
},
{
"code": "574957",
"display": "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency"
},
{
"code": "575553",
"display": "Cathepsin A-related arteriopathy-strokes-leukoencephalopathy"
},
{
"code": "576074",
"display": "Middle East respiratory syndrome"
},
{
"code": "576227",
"display": "Complete atrioventricular septal defect without ventricular hypoplasia"
},
{
"code": "576232",
"display": "Partial atrioventricular septal defect with ventricular hypoplasia"
},
{
"code": "576235",
"display": "Partial atrioventricular septal defect without ventricular hypoplasia"
},
{
"code": "576242",
"display": "Intermediate atrioventricular septal defect"
},
{
"code": "576278",
"display": "SATB2-associated syndrome"
},
{
"code": "576283",
"display": "SATB2-associated syndrome due to a pathogenic variant"
},
{
"code": "576349",
"display": "NLRC4-related familial cold autoinflammatory syndrome"
},
{
"code": "576370",
"display": "Variant Creutzfeldt-Jakob disease"
},
{
"code": "576379",
"display": "Iatrogenic Creutzfeldt-Jakob disease"
},
{
"code": "580572",
"display": "Intraductal tubulopapillary neoplasm of pancreas"
},
{
"code": "580933",
"display": "Lethal brain and heart developmental defects"
},
{
"code": "580940",
"display": "QRICH1-related intellectual disability-chondrodysplasia syndrome"
},
{
"code": "580951",
"display": "Punctate inner choroidopathy"
},
{
"code": "581271",
"display": "Cramp-fasciculation syndrome"
},
{
"code": "583097",
"display": "Congenital infiltrating lipomatosis of the face"
},
{
"code": "583595",
"display": "Serine biosynthesis pathway deficiency, infantile/juvenile form"
},
{
"code": "583602",
"display": "Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency"
},
{
"code": "583607",
"display": "Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency"
},
{
"code": "583612",
"display": "Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency"
},
{
"code": "583856",
"display": "Isolated splenic vein thrombosis"
},
{
"code": "583861",
"display": "Isolated mesenteric vein thrombosis"
},
{
"code": "585867",
"display": "Acute myeloid leukemia with t(9;22)(q34.1;q11.2)"
},
{
"code": "585877",
"display": "B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality"
},
{
"code": "585909",
"display": "B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)"
},
{
"code": "585918",
"display": "B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)"
},
{
"code": "585929",
"display": "B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)"
},
{
"code": "585936",
"display": "B-lymphoblastic leukemia/lymphoma with hyperdiploidy"
},
{
"code": "585942",
"display": "B-lymphoblastic leukemia/lymphoma with hypodiploidy"
},
{
"code": "585948",
"display": "B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)"
},
{
"code": "585956",
"display": "B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)"
},
{
"code": "586130",
"display": "Sporadic fatal insomnia"
},
{
"code": "589435",
"display": "Spondylometaphyseal dysplasia-corneal dystrophy syndrome"
},
{
"code": "589442",
"display": "Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome"
},
{
"code": "589515",
"display": "PUM1-associated developmental disability-ataxia-seizure syndrome"
},
{
"code": "589522",
"display": "Spinocerebellar ataxia type 46"
},
{
"code": "589527",
"display": "Spinocerebellar ataxia type 45"
},
{
"code": "589534",
"display": "Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)"
},
{
"code": "589542",
"display": "Myeloid/lymphoid neoplasm associated with JAK2 rearrangement"
},
{
"code": "589547",
"display": "GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder"
},
{
"code": "589595",
"display": "Mixed phenotype acute leukemia with t(v;11q23.3)"
},
{
"code": "589608",
"display": "Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies"
},
{
"code": "589618",
"display": "Dystonia 28"
},
{
"code": "589821",
"display": "Congenital-onset Steinert myotonic dystrophy"
},
{
"code": "589824",
"display": "Childhood-onset Steinert myotonic dystrophy"
},
{
"code": "589827",
"display": "Juvenile-onset Steinert myotonic dystrophy"
},
{
"code": "589830",
"display": "Adult-onset Steinert myotonic dystrophy"
},
{
"code": "589833",
"display": "Late-onset Steinert myotonic dystrophy"
},
{
"code": "589856",
"display": "Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome"
},
{
"code": "589905",
"display": "PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome"
},
{
"code": "590539",
"display": "Isolated melanotic schwannoma"
},
{
"code": "592564",
"display": "GNAO1-related developmental delay-seizures-movement disorder spectrum"
},
{
"code": "592570",
"display": "TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome"
},
{
"code": "592574",
"display": "Menke-Hennekam syndrome"
},
{
"code": "592850",
"display": "Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies"
},
{
"code": "592856",
"display": "Neuromyelitis optica spectrum disorder with anti-MOG antibodies"
},
{
"code": "592869",
"display": "Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies"
},
{
"code": "592873",
"display": "Acute transverse myelitis with anti-MOG antibodies"
},
{
"code": "592894",
"display": "Acute disseminated encephalomyelitis with anti-MOG antibodies"
},
{
"code": "592900",
"display": "Acute disseminated encephalomyelitis without anti-MOG antibodies"
},
{
"code": "595098",
"display": "Timothy syndrome type 1"
},
{
"code": "595105",
"display": "Timothy syndrome type 2"
},
{
"code": "595109",
"display": "Atypical Timothy syndrome"
},
{
"code": "595133",
"display": "Perivascular epithelioid cell neoplasm"
},
{
"code": "595356",
"display": "Localized dystrophic epidermolysis bullosa"
},
{
"code": "596008",
"display": "Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis"
},
{
"code": "596448",
"display": "IgG4-related systemic disease"
},
{
"code": "596753",
"display": "VEXAS syndrome"
},
{
"code": "596759",
"display": "Combined immunodeficiency due to RELA haploinsufficiency"
},
{
"code": "596937",
"display": "Portosinusoidal vascular disease"
},
{
"code": "596941",
"display": "Incomplete septal cirrhosis"
},
{
"code": "597201",
"display": "TRIM22-related inflammatory bowel disease"
},
{
"code": "597623",
"display": "IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome"
},
{
"code": "597733",
"display": "Oculocutaneous albinism type 8"
},
{
"code": "597738",
"display": "Luscan-Lumish syndrome"
},
{
"code": "597743",
"display": "SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome"
},
{
"code": "597746",
"display": "Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome"
},
{
"code": "597874",
"display": "MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome"
},
{
"code": "597887",
"display": "ALPI-related inflammatory bowel disease"
},
{
"code": "597939",
"display": "Euthyroid dysprealbuminemic hyperthyroxinemia"
},
{
"code": "598164",
"display": "FOXG1 syndrome due to intragenic alteration"
},
{
"code": "598216",
"display": "Upper tract urothelial carcinoma"
},
{
"code": "598363",
"display": "Multisystem inflammatory syndrome in children and adults"
},
{
"code": "598603",
"display": "Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome"
},
{
"code": "599082",
"display": "CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome"
},
{
"code": "599373",
"display": "STXBP1-related encephalopathy"
},
{
"code": "599376",
"display": "Hypomyelination of early myelinating structures"
},
{
"code": "599418",
"display": "Hereditary angioedema with normal C1Inh not related to F12 or PLG variant"
},
{
"code": "599480",
"display": "Acquired hemophilia A"
},
{
"code": "599485",
"display": "Acquired hemophilia B"
},
{
"code": "599490",
"display": "Acquired factor V deficiency"
},
{
"code": "599495",
"display": "Acquired factor VII deficiency"
},
{
"code": "599501",
"display": "Acquired factor X deficiency"
},
{
"code": "599507",
"display": "Acquired factor XI deficiency"
},
{
"code": "599513",
"display": "Acquired factor XIII deficiency"
},
{
"code": "599519",
"display": "Factor V short isoforms-related bleeding disorder"
},
{
"code": "599579",
"display": "Factor V Amsterdam bleeding disorder"
},
{
"code": "600194",
"display": "Factor V Atlanta bleeding disorder"
},
{
"code": "600663",
"display": "NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance"
},
{
"code": "600668",
"display": "CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome"
},
{
"code": "600691",
"display": "Combined deficiency of factor VII and factor X"
},
{
"code": "600731",
"display": "Clark-Baraitser syndrome"
},
{
"code": "600952",
"display": "Non-syndromic anorectal malformation with perineal fistula"
},
{
"code": "600961",
"display": "Non-syndromic anorectal malformation with rectourethral fistula"
},
{
"code": "600966",
"display": "Non-syndromic anorectal malformation with rectourethral fistula, bulbar type"
},
{
"code": "600975",
"display": "Non-syndromic anorectal malformation with rectourethral fistula, prostatic type"
},
{
"code": "600984",
"display": "Non-syndromic anorectal malformation with rectovesical fistula"
},
{
"code": "600993",
"display": "Non-syndromic anorectal malformation with vestibular fistula"
},
{
"code": "600998",
"display": "Non-syndromic cloacal malformation"
},
{
"code": "601002",
"display": "Non-syndromic anorectal malformation without fistula"
},
{
"code": "601008",
"display": "Non-syndromic anorectal malformation with anal stenosis"
},
{
"code": "601013",
"display": "Non-syndromic anorectal malformation with pouch colon"
},
{
"code": "601018",
"display": "Non-syndromic anorectal malformation with rectal atresia"
},
{
"code": "601023",
"display": "Non-syndromic anorectal malformation with rectal stenosis"
},
{
"code": "601028",
"display": "Non-syndromic anorectal malformation with rectovaginal fistula"
},
{
"code": "601033",
"display": "Non-syndromic anorectal malformation with H-type fistula"
},
{
"code": "603448",
"display": "Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome"
},
{
"code": "603494",
"display": "Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome"
},
{
"code": "603515",
"display": "Isolated female hypospadias"
},
{
"code": "603684",
"display": "KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome"
},
{
"code": "603689",
"display": "KLHL7-related Bohring-Opitz-like syndrome"
},
{
"code": "603694",
"display": "KLHL7-related Crisponi/cold-induced sweating-like syndrome"
},
{
"code": "604680",
"display": "Symptomatic form of X-linked centronuclear myopathy in female carriers"
},
{
"code": "610569",
"display": "KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome"
},
{
"code": "610573",
"display": "CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome"
},
{
"code": "611201",
"display": "Oculogastrointestinal-neurodevelopmental syndrome"
},
{
"code": "611207",
"display": "Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome"
},
{
"code": "611216",
"display": "Aplastic anemia-intellectual disability-dwarfism syndrome"
},
{
"code": "611223",
"display": "EN1-related dorsoventral syndrome"
},
{
"code": "611237",
"display": "Parkinsonism with polyneuropathy"
},
{
"code": "611247",
"display": "Pontocerebellar hypoplasia type 11"
},
{
"code": "611256",
"display": "Pontocerebellar hypoplasia type 12"
},
{
"code": "613267",
"display": "Pontocerebellar hypoplasia type 13"
},
{
"code": "613274",
"display": "Pontocerebellar hypoplasia type 14"
},
{
"code": "615938",
"display": "Spastic paraparesis-cataracts-speech delay syndrome"
},
{
"code": "615943",
"display": "Granuloma faciale"
},
{
"code": "615954",
"display": "Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome"
},
{
"code": "615964",
"display": "Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate"
},
{
"code": "615970",
"display": "Chronic intervillositis of unknown etiology"
},
{
"code": "615983",
"display": "Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation"
},
{
"code": "615986",
"display": "Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster"
},
{
"code": "616874",
"display": "Rare disorder without a determined diagnosis after full investigation"
},
{
"code": "617294",
"display": "Twin anemia-polycythemia sequence"
},
{
"code": "617297",
"display": "Twin-reversed arterial perfusion sequence"
},
{
"code": "617301",
"display": "Selective intrauterine growth restriction"
},
{
"code": "617304",
"display": "Amniotic fluid embolism"
},
{
"code": "617408",
"display": "Classic eosinophilic pustular folliculitis"
},
{
"code": "617440",
"display": "Painful legs and moving toes syndrome"
},
{
"code": "617449",
"display": "Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome"
},
{
"code": "617910",
"display": "Conjunctival malignant melanoma"
},
{
"code": "617916",
"display": "Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia"
},
{
"code": "617919",
"display": "F12-associated cold autoinflammatory syndrome"
},
{
"code": "617930",
"display": "Hemophilia B Leyden"
},
{
"code": "618891",
"display": "Chronic neurovisceral acid sphingomyelinase deficiency"
},
{
"code": "619233",
"display": "Hereditary persistence of fetal hemoglobin-intellectual disability syndrome"
},
{
"code": "619363",
"display": "NOCARH syndrome"
},
{
"code": "619367",
"display": "SAMD9L-associated autoinflammatory syndrome"
},
{
"code": "619941",
"display": "Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency"
},
{
"code": "619948",
"display": "Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency"
},
{
"code": "619953",
"display": "Familial hyperinflammatory lymphoproliferative immunodeficiency"
},
{
"code": "619972",
"display": "CADINS disease"
},
{
"code": "619979",
"display": "Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome"
},
{
"code": "620102",
"display": "Non-syndromic unicoronal craniosynostosis"
},
{
"code": "620113",
"display": "Non-syndromic unilambdoid craniosynostosis"
},
{
"code": "620139",
"display": "Non-syndromic unifrontosphenoidal craniosynostosis"
},
{
"code": "620146",
"display": "Non-syndromic unisquamosal craniosynostosis"
},
{
"code": "620158",
"display": "Non-syndromic non-specific multisutural craniosynostosis"
},
{
"code": "620178",
"display": "Non-syndromic bilambdoid craniosynostosis"
},
{
"code": "620186",
"display": "Non-syndromic unicoronal and sagittal craniosynostosis"
},
{
"code": "620192",
"display": "Non-syndromic metopic and sagittal craniosynostosis"
},
{
"code": "620198",
"display": "Non-syndromic bicoronal and metopic craniosynostosis"
},
{
"code": "620205",
"display": "Non-syndromic bicoronal and sagittal craniosynostosis"
},
{
"code": "620212",
"display": "Non-syndromic pansynostosis"
},
{
"code": "620217",
"display": "Bartter syndrome type 1"
},
{
"code": "620220",
"display": "Bartter syndrome type 2"
},
{
"code": "620363",
"display": "Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome"
},
{
"code": "620368",
"display": "EGF-related primary hypomagnesemia with intellectual disability"
},
{
"code": "620371",
"display": "Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation"
},
{
"code": "621758",
"display": "Fibrosis-neurodegeneration-cerebral angiomatosis syndrome"
},
{
"code": "622099",
"display": "Superior mesenteric artery syndrome"
},
{
"code": "622925",
"display": "X-linked severe syndromic thoracic aortic aneurysm and dissection"
},
{
"code": "622934",
"display": "SBDS-related severe neonatal spondylometaphyseal dysplasia"
},
{
"code": "623615",
"display": "Autoimmune limbic encephalitis"
},
{
"code": "623626",
"display": "Paraneoplastic cerebellar degeneration"
},
{
"code": "623695",
"display": "MIR140-related spondyloepiphyseal dysplasia"
},
{
"code": "623789",
"display": "Body integrity dysphoria"
},
{
"code": "623801",
"display": "Acute flaccid myelitis"
},
{
"code": "624166",
"display": "Non-specific autoimmune supratentorial encephalitis with characteristic antibodies"
},
{
"code": "624178",
"display": "Non-specific autoimmune supratentorial encephalitis without characteristic antibodies"
},
{
"code": "624190",
"display": "Paraneoplastic isolated brainstem encephalitis"
},
{
"code": "624199",
"display": "Non-specific autoimmune brainstem encephalitis with characteristic antibodies"
},
{
"code": "624216",
"display": "Non-specific autoimmune brainstem encephalitis without characteristic antibodies"
},
{
"code": "624244",
"display": "Postinfectious cerebellitis"
},
{
"code": "624259",
"display": "Non-specific autoimmune cerebellar ataxia with characteristic antibodies"
},
{
"code": "624268",
"display": "Non-specific autoimmune cerebellar ataxia without characteristic antibodies"
},
{
"code": "631068",
"display": "Autosomal dominant spastic paraplegia type 80"
},
{
"code": "631073",
"display": "Autosomal recessive spastic paraplegia type 82"
},
{
"code": "631076",
"display": "Autosomal recessive spastic paraplegia type 83"
},
{
"code": "631079",
"display": "Autosomal recessive spastic paraplegia type 84"
},
{
"code": "631082",
"display": "Autosomal recessive spastic paraplegia type 85"
},
{
"code": "631085",
"display": "Autosomal recessive spastic paraplegia type 86"
},
{
"code": "631088",
"display": "Autosomal recessive spastic paraplegia type 87"
},
{
"code": "631095",
"display": "Spinocerebellar ataxia type 44"
},
{
"code": "631103",
"display": "Spinocerebellar ataxia type 48"
},
{
"code": "631106",
"display": "Spinocerebellar ataxia type 49"
},
{
"code": "631248",
"display": "Mitchell Syndrome"
},
{
"code": "631251",
"display": "Cancer of unknown primary site"
},
{
"code": "632603",
"display": "Mesomelic dysplasia-digital anomalies-intellectual disability syndrome"
},
{
"code": "633004",
"display": "KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome"
},
{
"code": "633014",
"display": "SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome"
},
{
"code": "633021",
"display": "SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome"
},
{
"code": "633024",
"display": "SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome"
},
{
"code": "633028",
"display": "CPE-related Prader-Willi-like syndrome"
},
{
"code": "633035",
"display": "Intellectual disability-early-onset cataract-microcephaly syndrome"
},
{
"code": "633076",
"display": "Split cord malformation, composite type"
},
{
"code": "633099",
"display": "PAICS deficiency"
},
{
"code": "633124",
"display": "Invasive scopulariopsis infection"
},
{
"code": "633211",
"display": "Preaxial digit brachydactyly-webbed fingers"
},
{
"code": "633228",
"display": "Isolated proximal femoral focal deficiency"
},
{
"code": "634461",
"display": "Mosaic neurofibromatosis type 1"
},
{
"code": "634475",
"display": "Mosaic NF2-related schwannomatosis"
},
{
"code": "634492",
"display": "Mosaic schwannomatosis"
},
{
"code": "634511",
"display": "Mosaic Legius syndrome"
},
{
"code": "636941",
"display": "Vascular Ehlers-Danlos-polymicrogyria syndrome"
},
{
"code": "636945",
"display": "Invasive candidiasis"
},
{
"code": "636950",
"display": "Glaucomatocyclitic crisis disease"
},
{
"code": "636955",
"display": "Endemic pemphigus foliaceus"
},
{
"code": "636965",
"display": "Autosomal dominant myosin storage myopathy"
},
{
"code": "636970",
"display": "Autosomal recessive myosin storage myopathy"
},
{
"code": "637013",
"display": "SMARCA2-related blepharophimosis-intellectual disability syndrome"
},
{
"code": "637051",
"display": "Borna virus encephalitis"
},
{
"code": "637061",
"display": "Isolated optic nerve hypoplasia"
},
{
"code": "637064",
"display": "Isolated optic nerve aplasia"
},
{
"code": "641350",
"display": "Immunotherapy induced hypophysitis"
},
{
"code": "641353",
"display": "Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome"
},
{
"code": "641361",
"display": "Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome"
},
{
"code": "641368",
"display": "Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency"
},
{
"code": "641372",
"display": "B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)"
},
{
"code": "641375",
"display": "B-lymphoblastic leukemia/lymphoma with t(17;19)"
},
{
"code": "641380",
"display": "PAPASH syndrome"
},
{
"code": "641385",
"display": "PASS syndrome"
},
{
"code": "641390",
"display": "PsAPASH syndrome"
},
{
"code": "641396",
"display": "Central nervous system tuberculosis"
},
{
"code": "641496",
"display": "Childhood-onset schizophrenia"
},
{
"code": "641829",
"display": "Neonatal compartment syndrome"
},
{
"code": "642071",
"display": "Primary pulmonary vein stenosis"
},
{
"code": "642085",
"display": "EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity"
},
{
"code": "642099",
"display": "Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type"
},
{
"code": "642671",
"display": "Familial hyperaldosteronism type IV"
},
{
"code": "642675",
"display": "CHD8 overgrowth syndrome"
},
{
"code": "642691",
"display": "Fragile X-associated primary ovarian insufficiency"
},
{
"code": "642747",
"display": "PUM1-related cerebellar ataxia"
},
{
"code": "642763",
"display": "Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation"
},
{
"code": "642788",
"display": "Cushing syndrome due to cortisol-producing adrenocortical adenoma"
},
{
"code": "642945",
"display": "Perrault syndrome type 1"
},
{
"code": "642954",
"display": "Autosomal recessive ataxia due to PEX16 deficiency"
},
{
"code": "642965",
"display": "Autosomal recessive ataxia due to PEX2 deficiency"
},
{
"code": "642976",
"display": "Perrault syndrome type 2"
},
{
"code": "643503",
"display": "Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome"
},
{
"code": "643538",
"display": "Hao-Fountain syndrome due to USP7 mutation"
},
{
"code": "643549",
"display": "Hao-Fountain syndrome"
},
{
"code": "645188",
"display": "Spinal dermal sinus"
},
{
"code": "645285",
"display": "Chaotic conus spinal cord lipoma"
},
{
"code": "645288",
"display": "Terminal extramedullary conus spinal cord lipoma"
},
{
"code": "645291",
"display": "Transitional extramedullary conus spinal cord lipoma"
},
{
"code": "645294",
"display": "Posterior extramedullary conus spinal cord lipoma"
},
{
"code": "645297",
"display": "Extramedullary conus spinal cord lipoma"
},
{
"code": "645300",
"display": "Lipomatous non-saccular limited dorsal myeloschisis"
},
{
"code": "645310",
"display": "Fibroneural non-saccular limited dorsal myeloschisis"
},
{
"code": "645322",
"display": "Isolated transitional filum lipoma"
},
{
"code": "645325",
"display": "Isolated filum lipoma"
},
{
"code": "645334",
"display": "Retained medullary cord"
},
{
"code": "645337",
"display": "Terminal myelocystocele"
},
{
"code": "645340",
"display": "Non-terminal myelocystocele"
},
{
"code": "645343",
"display": "Non-saccular limited dorsal myeloschisis"
},
{
"code": "645350",
"display": "Segmental arterial mediolysis"
},
{
"code": "645354",
"display": "Saccular limited dorsal myeloschisis"
},
{
"code": "645359",
"display": "Intramedullary non-dysraphic spinal cord lipoma"
},
{
"code": "645362",
"display": "Dorsal spinal cord lipoma"
},
{
"code": "645378",
"display": "Myelic limited dorsal malformation"
},
{
"code": "645383",
"display": "True myelomeningocele"
},
{
"code": "645388",
"display": "Hemi-myelomeningocele"
},
{
"code": "645393",
"display": "Hemi-myeloschisis"
},
{
"code": "645398",
"display": "Myeloschisis"
},
{
"code": "645401",
"display": "True myeloschisis"
},
{
"code": "645613",
"display": "Classical dermatomyositis"
},
{
"code": "645617",
"display": "Amyopathic dermatomyositis"
},
{
"code": "645626",
"display": "Adermatopathic dermatomyositis"
},
{
"code": "645749",
"display": "Congenital esophageal stenosis"
},
{
"code": "645793",
"display": "Spontaneous intestinal perforation"
},
{
"code": "645807",
"display": "Primary tuberculous lymphadenitis"
},
{
"code": "645814",
"display": "Primary pulmonary tuberculosis"
},
{
"code": "645822",
"display": "Primary bone and joint tuberculosis"
},
{
"code": "645849",
"display": "Primary cutaneous tuberculosis"
},
{
"code": "645854",
"display": "Multifocal tuberculosis"
},
{
"code": "645859",
"display": "Primary tuberculosis of the digestive system"
},
{
"code": "645874",
"display": "Primary genito-urinary tuberculosis"
},
{
"code": "646113",
"display": "Intermediate collagen VI-related muscular dystrophy"
},
{
"code": "646136",
"display": "Dysplastic cortical hyperostosis, Al-Gazali type"
},
{
"code": "646139",
"display": "Dysplastic cortical hyperostosis"
},
{
"code": "646278",
"display": "CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome"
},
{
"code": "647667",
"display": "Mandibuloacral dysplasia associated to MTX2"
},
{
"code": "647676",
"display": "Multiple epiphyseal dysplasia type 7"
},
{
"code": "647681",
"display": "Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome"
},
{
"code": "647772",
"display": "Isolated primary pigmented nodular adrenocortical disease"
},
{
"code": "647782",
"display": "Isolated micronodular adrenocortical disease"
},
{
"code": "647788",
"display": "Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome"
},
{
"code": "647794",
"display": "Isolated persistent urogenital sinus"
},
{
"code": "647799",
"display": "MYT1L-related developmental delay-intellectual disability-obesity syndrome"
},
{
"code": "647804",
"display": "Combined immunodeficiency due to FCHO1 deficiency"
},
{
"code": "647811",
"display": "Cardiac-urogenital syndrome"
},
{
"code": "647815",
"display": "Keratitis fugax hereditaria"
},
{
"code": "647823",
"display": "Idiopathic pregnancy-associated osteoporosis"
},
{
"code": "647834",
"display": "SLC40A1-related hemochromatosis"
},
{
"code": "647916",
"display": "Conjoined twins"
},
{
"code": "648562",
"display": "Ferroportin disease"
},
{
"code": "648581",
"display": "Digenic hemochromatosis"
},
{
"code": "648665",
"display": "Infectious scleritis"
},
{
"code": "648675",
"display": "Idiopathic scleritis"
},
{
"code": "648681",
"display": "Immune-mediated scleritis"
},
{
"code": "648684",
"display": "Central retinal artery occlusion"
},
{
"code": "648919",
"display": "Idiopathic catatonia"
},
{
"code": "648992",
"display": "Non-syndromic bridging bronchus"
},
{
"code": "649010",
"display": "Non-syndromic congenital bronchial atresia"
},
{
"code": "649029",
"display": "Isolated left bronchial isomerism"
},
{
"code": "650077",
"display": "Genetic central precocious puberty in female"
},
{
"code": "650082",
"display": "Secondary central precocious puberty in female"
},
{
"code": "650087",
"display": "Primary central precocious puberty in male"
},
{
"code": "650092",
"display": "Secondary central precocious puberty in male"
},
{
"code": "650097",
"display": "Genetic central precocious puberty in male"
},
{
"code": "650102",
"display": "Non-genetic central precocious puberty in male"
},
{
"code": "652487",
"display": "Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome"
},
{
"code": "652514",
"display": "Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation"
},
{
"code": "652519",
"display": "Cleft palate-congenital heart defect-intellectual disability syndrome"
},
{
"code": "652522",
"display": "Periodic fever-immunodeficiency-thrombocytopenia syndrome"
},
{
"code": "652528",
"display": "Non-syndromic supernumerary kidneys"
},
{
"code": "652532",
"display": "Adult-onset progressive leukoencephalopathy-early-onset deafness"
},
{
"code": "652650",
"display": "Nodal T-follicular helper cell lymphoma, follicular type"
},
{
"code": "652658",
"display": "Monomorphic epitheliotropic intestinal T-cell lymphoma"
},
{
"code": "652668",
"display": "Primary superior vena cava aneurysm"
},
{
"code": "652678",
"display": "Primary inferior vena cava aneurysm"
},
{
"code": "652681",
"display": "Idiopathic subglottic stenosis"
},
{
"code": "653698",
"display": "Lymphocytic mastitis"
},
{
"code": "653709",
"display": "Cone rod dystrophy-short stature syndrome"
},
{
"code": "653712",
"display": "CHD4-related neurodevelopmental disorder"
},
{
"code": "653722",
"display": "Digenic Alport syndrome"
},
{
"code": "653725",
"display": "Autosomal recessive limb-girdle muscular dystrophy, type 28"
},
{
"code": "653728",
"display": "Congenital insensitivity to pain syndrome, Marsili type"
},
{
"code": "653751",
"display": "X-linked combined immunodeficiency due to SASH3 deficiency"
},
{
"code": "653767",
"display": "Jansen-de Vries syndrome"
},
{
"code": "653880",
"display": "Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency"
},
{
"code": "656071",
"display": "Atrophic papulosis"
},
{
"code": "656085",
"display": "Benign atrophic papulosis"
},
{
"code": "656126",
"display": "Segmental spinal dysgenesis"
},
{
"code": "656130",
"display": "PBX1-related congenital anomalies of kidney and urinary tract syndrome"
},
{
"code": "656135",
"display": "Intellectual disability-cupped ears syndrome"
},
{
"code": "656279",
"display": "1p36.33 duplication syndrome"
},
{
"code": "656283",
"display": "Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency"
},
{
"code": "656300",
"display": "Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency"
},
{
"code": "656313",
"display": "Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency"
},
{
"code": "656326",
"display": "Autosomal recessive combined immunodeficiency due to IL6R deficiency"
},
{
"code": "656417",
"display": "Embryonal tumor with multilayered rosettes"
},
{
"code": "656912",
"display": "Autosomal dominant combined immunodeficiency due to ERBIN deficiency"
},
{
"code": "658540",
"display": "16q22 deletion syndrome"
},
{
"code": "658549",
"display": "Idiopathic small fibers neuropathy"
},
{
"code": "658574",
"display": "Isolated pulmonary artery sling"
},
{
"code": "658584",
"display": "Rowell syndrome"
},
{
"code": "658590",
"display": "Eyelid sebaceous carcinoma"
},
{
"code": "658595",
"display": "DNMT3A-related microcephalic dwarfism"
},
{
"code": "658602",
"display": "Transplant-related bronchiolitis obliterans"
},
{
"code": "658612",
"display": "Non-transplant-related bronchiolitis obliterans"
},
{
"code": "658778",
"display": "COQ7-related distal hereditary motor neuropathy"
},
{
"code": "658805",
"display": "Greig cephalopolysyndactyly-contiguous gene syndrome"
},
{
"code": "658810",
"display": "Atrophoderma of Pasini and Pierini"
},
{
"code": "658813",
"display": "Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency"
},
{
"code": "658843",
"display": "Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome"
},
{
"code": "658909",
"display": "Fasciolopsiasis"
},
{
"code": "658913",
"display": "Paragonimiasis"
},
{
"code": "658917",
"display": "Clonorchiasis"
},
{
"code": "658946",
"display": "Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency"
},
{
"code": "658951",
"display": "Early-onset immune dysregulation due to DOCK11 complete deficiency"
},
{
"code": "659396",
"display": "Cohen-Gibson syndrome"
},
{
"code": "659463",
"display": "Imagawa-Matsumoto syndrome"
},
{
"code": "659609",
"display": "Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome"
},
{
"code": "659626",
"display": "Single isolated optic neuritis"
},
{
"code": "659634",
"display": "Relapsing isolated optic neuritis"
},
{
"code": "659642",
"display": "Rauch-Steindl syndrome"
},
{
"code": "659672",
"display": "Harderoporphyria"
},
{
"code": "659702",
"display": "Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome"
},
{
"code": "659707",
"display": "Yersinia pseudotuberculosis infection"
},
{
"code": "659744",
"display": "Ocular surface squamous neoplasia"
},
{
"code": "659756",
"display": "Oroya fever"
},
{
"code": "659759",
"display": "Verruga peruana"
},
{
"code": "659873",
"display": "Wormian bones-micrognathia-abnormal dentition-progeroid syndrome"
},
{
"code": "659904",
"display": "Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome"
},
{
"code": "659908",
"display": "Glanders"
},
{
"code": "659975",
"display": "Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome"
},
{
"code": "660012",
"display": "Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation"
},
{
"code": "660017",
"display": "Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome"
},
{
"code": "660021",
"display": "Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome"
},
{
"code": "660053",
"display": "Psittacosis"
},
{
"code": "661412",
"display": "Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency"
},
{
"code": "661526",
"display": "MBD4-related tumor predisposition syndrome"
},
{
"code": "662169",
"display": "Phelan-McDermid syndrome due to 22q13.3 deletion"
},
{
"code": "662172",
"display": "Phelan-McDermid syndrome due to SHANK3 mutation"
},
{
"code": "662175",
"display": "Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome"
},
{
"code": "662179",
"display": "Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome"
},
{
"code": "662184",
"display": "Congenital muscular dystrophy-cataract-intellectual disability syndrome"
},
{
"code": "662189",
"display": "Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome"
},
{
"code": "662198",
"display": "Neurodevelopmental delay-intellectual disability-skeletal defects syndrome"
},
{
"code": "662207",
"display": "Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome"
},
{
"code": "662216",
"display": "Mucopolysaccharidosis type 10"
},
{
"code": "662229",
"display": "Episodic memory defect leukoencephalopathy"
},
{
"code": "662234",
"display": "Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome"
},
{
"code": "662240",
"display": "Frey syndrome"
},
{
"code": "662255",
"display": "Grisel syndrome"
},
{
"code": "662367",
"display": "NESCAV syndrome"
},
{
"code": "662376",
"display": "Gastric duplication"
},
{
"code": "662388",
"display": "Gallbladder duplication"
},
{
"code": "662392",
"display": "Colonic duplication"
},
{
"code": "662405",
"display": "Pyloric duplication"
},
{
"code": "662456",
"display": "Small intestine duplication"
},
{
"code": "662473",
"display": "Duodenal duplication"
},
{
"code": "662480",
"display": "Jujeno-ileal duplication"
},
{
"code": "662721",
"display": "Placenta accreta spectrum disorder"
},
{
"code": "662762",
"display": "Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome"
},
{
"code": "662786",
"display": "Vasa previa"
},
{
"code": "662829",
"display": "Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome"
},
{
"code": "662934",
"display": "Acute megakaryoblastic leukemia in adult"
},
{
"code": "664372",
"display": "Soft and hard cleft palate"
},
{
"code": "664377",
"display": "MGP-related spondyloepiphyseal dysplasia"
},
{
"code": "664401",
"display": "Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation"
},
{
"code": "664404",
"display": "6q25.1 microdeletion syndrome"
},
{
"code": "664410",
"display": "Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome"
},
{
"code": "664416",
"display": "Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation"
},
{
"code": "664430",
"display": "Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome"
},
{
"code": "664438",
"display": "Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome"
},
{
"code": "664500",
"display": "Hermansky-Pudlak syndrome due to AP3B1 deficiency"
},
{
"code": "664511",
"display": "Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency"
},
{
"code": "664699",
"display": "EBV-induced lymphoproliferative disease due to RASGRP1 deficiency"
},
{
"code": "664711",
"display": "EBV-induced lymphoproliferative disease due to PRKCD deficiency"
},
{
"code": "664726",
"display": "EBV-induced lymphoproliferative disease due to CD137 deficiency"
},
{
"code": "664729",
"display": "EBV-induced lymphoproliferative disease due to TET2 deficiency"
},
{
"code": "664787",
"display": "Nicolau syndrome"
},
{
"code": "664901",
"display": "Trigeminal trophic syndrome"
},
{
"code": "664912",
"display": "Neonatal renal venous thrombosis"
},
{
"code": "664923",
"display": "Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome"
},
{
"code": "665044",
"display": "Common arterial trunk with aortic dominance"
},
{
"code": "665058",
"display": "Common arterial trunk with pulmonary dominance and interrupted aortic arch"
},
{
"code": "667589",
"display": "Isolated congenital femoral bifurcation"
},
{
"code": "667662",
"display": "Breast implant-associated anaplastic large cell lymphoma"
},
{
"code": "667678",
"display": "Intraoral basal cell carcinoma"
},
{
"code": "672979",
"display": "Craniosynostosis-facial dysmorphism-brachydactyly syndrome"
},
{
"code": "672985",
"display": "Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome"
},
{
"code": "673525",
"display": "Intravascular papillary endothelial hyperplasia"
},
{
"code": "673538",
"display": "Littoral cell hemangioma of the spleen"
},
{
"code": "673543",
"display": "Papillary hemangioma"
},
{
"code": "673556",
"display": "Pseudomyogenic hemangioendothelioma"
},
{
"code": "673568",
"display": "Eccrine angiomatous hamartoma"
},
{
"code": "673574",
"display": "Reactive angioendotheliomatosis"
},
{
"code": "673580",
"display": "Classic pilocytic astrocytoma"
},
{
"code": "673585",
"display": "Pilocytic astrocytoma with histological features of anaplasia"
},
{
"code": "674653",
"display": "Actinomyopathy-associated syndromic thrombocytopenia"
},
{
"code": "674762",
"display": "Early-onset autoinflammatory syndrome due to A20 haploinsufficiency"
},
{
"code": "674924",
"display": "Isolated retinal racemose hemangioma"
},
{
"code": "674930",
"display": "Perifoveal exudative vascular anomalous complex"
},
{
"code": "674935",
"display": "Torpedo Maculopathy"
},
{
"code": "674943",
"display": "Isolated angioid streaks"
},
{
"code": "674947",
"display": "Diffuse unilateral subacute neuroretinitis"
},
{
"code": "674953",
"display": "Multiple evanescent white dot syndrome"
},
{
"code": "674958",
"display": "Stellate multiform amelanotic choroidopathy"
},
{
"code": "674965",
"display": "Choroidal osteoma"
},
{
"code": "674968",
"display": "Bilateral diffuse uveal melanocytic proliferation disease"
},
{
"code": "675216",
"display": "Spinocerebellar ataxia type 27B"
},
{
"code": "675359",
"display": "Anastomosing haemangioma"
},
{
"code": "675362",
"display": "Hobnail hemangioma"
},
{
"code": "675369",
"display": "Microvenular haemangioma"
},
{
"code": "675380",
"display": "Isolated segmental infantile hemangioma"
},
{
"code": "675396",
"display": "Epithelioid hemangioma"
},
{
"code": "675404",
"display": "May-Thurner syndrome"
},
{
"code": "675597",
"display": "Acquired elastotic haemangioma"
},
{
"code": "675628",
"display": "TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome"
},
{
"code": "675767",
"display": "Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency"
},
{
"code": "675775",
"display": "Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome"
},
{
"code": "675782",
"display": "Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN"
},
{
"code": "675814",
"display": "Adenomatoid tumour of the pleura"
},
{
"code": "675822",
"display": "Well-differentiated papillary mesothelial tumour of the pleura"
},
{
"code": "675833",
"display": "Localized pleural mesothelioma"
},
{
"code": "675837",
"display": "Diffused pleural mesothelioma"
},
{
"code": "675841",
"display": "Pleural mesothelioma in situ"
},
{
"code": "675976",
"display": "Adenomatoid tumour of the peritoneum"
},
{
"code": "676033",
"display": "Well-differentiated papillary mesothelial tumour of the peritoneum"
},
{
"code": "676036",
"display": "Peritoneal mesothelioma in situ"
},
{
"code": "676039",
"display": "Combined immunodeficiency due to FOXN1 haploinsufficiency"
},
{
"code": "676125",
"display": "X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency"
}
]
}
]
}
}
FHIR
FHIRsmith