| Package | hl7.eu.terminology.ehdsi |
| Type | ValueSet |
| Id | Id |
| FHIR Version | R4 |
| Source | http://hl7europe.org/fhir/terminology/ehdsi/https://build.fhir.org/ig/hl7-eu/EHDSI-Terminology-package/ValueSet-eHDSIRareDisease.html |
| Url | http://terminology.ehdsi.eu/ValueSet/eHDSIRareDisease |
| Version | 0.1.0 |
| Status | draft |
| Date | 2024-11-29T17:37:48+00:00 |
| Name | EHDSIRareDisease |
| Title | eHDSI Rare Disease |
| Experimental | False |
| Realm | eu |
| Authority | hl7 |
| Description | The Value Set is used to describe the problems and medication reasons. |
No resources found
No resources found
FHIR{
"resourceType" : "ValueSet",
"id" : "eHDSIRareDisease",
"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" : "0.1.0",
"name" : "EHDSIRareDisease",
"title" : "eHDSI Rare Disease",
"status" : "draft",
"experimental" : false,
"date" : "2024-11-29T17:37:48+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" : "18",
"display" : "Distal renal tubular acidosis"
},
{
"code" : "26",
"display" : "Methylmalonic acidemia with homocystinuria"
},
{
"code" : "35",
"display" : "Propionic acidemia"
},
{
"code" : "36",
"display" : "Acrocallosal syndrome"
},
{
"code" : "49",
"display" : "Penile agenesis"
},
{
"code" : "76",
"display" : "Strongyloidiasis"
},
{
"code" : "93",
"display" : "Aspartylglucosaminuria"
},
{
"code" : "96",
"display" : "Ataxia with vitamin E deficiency"
},
{
"code" : "123",
"display" : "Björnstad syndrome"
},
{
"code" : "456369",
"display" : "Polyglucosan body myopathy type 2"
},
{
"code" : "457083",
"display" : "Isolated splenogonadal fusion"
},
{
"code" : "457223",
"display" : "Syndromic sensorineural deafness due to combined oxidative phosphorylation defect"
},
{
"code" : "457265",
"display" : "Progressive myoclonic epilepsy type 9"
},
{
"code" : "457485",
"display" : "Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome"
},
{
"code" : "459056",
"display" : "Autosomal recessive spastic paraplegia type 75"
},
{
"code" : "464288",
"display" : "Short stature-brachydactyly-obesity-global developmental delay syndrome"
},
{
"code" : "464318",
"display" : "Verrucous hemangioma"
},
{
"code" : "464359",
"display" : "Benign metanephric tumor"
},
{
"code" : "466650",
"display" : "Exercise-induced malignant hyperthermia"
},
{
"code" : "466688",
"display" : "Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome"
},
{
"code" : "466784",
"display" : "Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect"
},
{
"code" : "468635",
"display" : "Cryptogenic multifocal ulcerous stenosing enteritis"
},
{
"code" : "476093",
"display" : "Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome"
},
{
"code" : "476119",
"display" : "Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome"
},
{
"code" : "477787",
"display" : "Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder"
},
{
"code" : "477993",
"display" : "Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome"
},
{
"code" : "478664",
"display" : "Hereditary sensory and autonomic neuropathy type 8"
},
{
"code" : "480483",
"display" : "Progressive familial intrahepatic cholestasis type 4"
},
{
"code" : "480501",
"display" : "Choledochal cyst"
},
{
"code" : "480512",
"display" : "Idiopathic ductopenia"
},
{
"code" : "480528",
"display" : "Lethal hydranencephaly-diaphragmatic hernia syndrome"
},
{
"code" : "480553",
"display" : "Aneurysmal bone cyst"
},
{
"code" : "480851",
"display" : "Hereditary thrombocytopenia with early-onset myelofibrosis"
},
{
"code" : "485426",
"display" : "Isolated congenital hepatic fibrosis"
},
{
"code" : "487809",
"display" : "Pediatric collagenous gastritis"
},
{
"code" : "488437",
"display" : "SIX2-related frontonasal dysplasia"
},
{
"code" : "488627",
"display" : "Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome"
},
{
"code" : "495844",
"display" : "C11ORF73-related autosomal recessive hypomyelinating leukodystrophy"
},
{
"code" : "495875",
"display" : "Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome"
},
{
"code" : "496641",
"display" : "Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome"
},
{
"code" : "498251",
"display" : "Menstrual cycle-dependent periodic fever"
},
{
"code" : "500163",
"display" : "Witteveen-Kolk syndrome"
},
{
"code" : "506353",
"display" : "Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction"
},
{
"code" : "508476",
"display" : "Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome"
},
{
"code" : "508488",
"display" : "8q24.3 microdeletion syndrome"
},
{
"code" : "508523",
"display" : "Hyperphenylalaninemia due to DNAJC12 deficiency"
},
{
"code" : "519398",
"display" : "Isolated foveal hypoplasia"
},
{
"code" : "521219",
"display" : "Mirizzi syndrome"
},
{
"code" : "525731",
"display" : "Pediatric-onset Graves disease"
},
{
"code" : "528091",
"display" : "Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome"
},
{
"code" : "529468",
"display" : "Monoclonal mast cell activation syndrome"
},
{
"code" : "529831",
"display" : "Letrozole toxicity"
},
{
"code" : "529962",
"display" : "17q24.2 microdeletion syndrome"
},
{
"code" : "529980",
"display" : "Inflammatory bowel disease-recurrent sinopulmonary infections syndrome"
},
{
"code" : "530033",
"display" : "Dermoid or epidermoid cyst of the central nervous system"
},
{
"code" : "530303",
"display" : "Progressive dementia with neuroserpin inclusion bodies"
},
{
"code" : "538574",
"display" : "Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome"
},
{
"code" : "538963",
"display" : "Combined immunodeficiency due to ITK deficiency"
},
{
"code" : "541423",
"display" : "Growth delay-intellectual disability-hepatopathy syndrome"
},
{
"code" : "542585",
"display" : "Auditory neuropathy-optic atrophy syndrome"
},
{
"code" : "544472",
"display" : "Atypical hemolytic uremic syndrome with complement gene abnormality"
},
{
"code" : "544578",
"display" : "Congenital primary megaureter, refluxing and obstructed form"
},
{
"code" : "544602",
"display" : "Congenital myopathy with reduced type 2 muscle fibers"
},
{
"code" : "558411",
"display" : "Idiopathic gastroparesis"
},
{
"code" : "563666",
"display" : "Serous cystadenoma of childhood"
},
{
"code" : "144",
"display" : "Lynch syndrome"
},
{
"code" : "156",
"display" : "Carnitine palmitoyl transferase 1A deficiency"
},
{
"code" : "168",
"display" : "Loose anagen syndrome"
},
{
"code" : "189",
"display" : "Hidrotic ectodermal dysplasia"
},
{
"code" : "193",
"display" : "Cohen syndrome"
},
{
"code" : "199",
"display" : "Cornelia de Lange syndrome"
},
{
"code" : "212",
"display" : "Cystathioninuria"
},
{
"code" : "222",
"display" : "Erosive pustular dermatosis of the scalp"
},
{
"code" : "233",
"display" : "Duane retraction syndrome"
},
{
"code" : "245",
"display" : "Nager syndrome"
},
{
"code" : "246",
"display" : "Postaxial acrofacial dysostosis"
},
{
"code" : "256",
"display" : "Early-onset generalized limb-onset dystonia"
},
{
"code" : "272",
"display" : "Congenital muscular dystrophy, Fukuyama type"
},
{
"code" : "296",
"display" : "Ollier disease"
},
{
"code" : "308",
"display" : "Progressive myoclonic epilepsy type 1"
},
{
"code" : "318",
"display" : "Acute erythroid leukemia"
},
{
"code" : "319",
"display" : "Skeletal Ewing sarcoma"
},
{
"code" : "377",
"display" : "Gorlin syndrome"
},
{
"code" : "382",
"display" : "Guanidinoacetate methyltransferase deficiency"
},
{
"code" : "407",
"display" : "Glycine encephalopathy"
},
{
"code" : "417",
"display" : "Neonatal severe primary hyperparathyroidism"
},
{
"code" : "444",
"display" : "Marie Unna hereditary hypotrichosis"
},
{
"code" : "461",
"display" : "Recessive X-linked ichthyosis"
},
{
"code" : "506",
"display" : "Leigh syndrome"
},
{
"code" : "509",
"display" : "Leptospirosis"
},
{
"code" : "529",
"display" : "Roch-Leri mesosomatous lipomatosis"
},
{
"code" : "530",
"display" : "Lipoid proteinosis"
},
{
"code" : "549",
"display" : "Legionnaires disease"
},
{
"code" : "551",
"display" : "MERRF"
},
{
"code" : "566",
"display" : "Congenital microcoria"
},
{
"code" : "568",
"display" : "Microphthalmia, Lenz type"
},
{
"code" : "616",
"display" : "Medulloblastoma"
},
{
"code" : "622",
"display" : "Homocystinuria without methylmalonic aciduria"
},
{
"code" : "631",
"display" : "Non-acquired isolated growth hormone deficiency"
},
{
"code" : "641",
"display" : "Multifocal motor neuropathy"
},
{
"code" : "656",
"display" : "Genetic steroid-resistant nephrotic syndrome"
},
{
"code" : "668",
"display" : "Osteosarcoma"
},
{
"code" : "675",
"display" : "Annular pancreas"
},
{
"code" : "676",
"display" : "Hereditary chronic pancreatitis"
},
{
"code" : "714",
"display" : "Hemolytic anemia due to diphosphoglycerate mutase deficiency"
},
{
"code" : "723",
"display" : "Pneumocystosis"
},
{
"code" : "746",
"display" : "Mitochondrial trifunctional protein deficiency"
},
{
"code" : "753",
"display" : "46,XY difference of sex development due to 5-alpha-reductase 2 deficiency"
},
{
"code" : "770",
"display" : "Rabies"
},
{
"code" : "565858",
"display" : "Craniosynostosis-microretrognathia-severe intellectual disability syndrome"
},
{
"code" : "566243",
"display" : "Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta"
},
{
"code" : "566862",
"display" : "Left sided atrial isomerism"
},
{
"code" : "567544",
"display" : "Idiopathic non-lupus full-house nephropathy"
},
{
"code" : "570470",
"display" : "Ricin poisoning"
},
{
"code" : "576074",
"display" : "Middle East respiratory syndrome"
},
{
"code" : "576232",
"display" : "Partial atrioventricular septal defect with ventricular hypoplasia"
},
{
"code" : "576379",
"display" : "Iatrogenic Creutzfeldt-Jakob disease"
},
{
"code" : "583607",
"display" : "Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency"
},
{
"code" : "589527",
"display" : "Spinocerebellar ataxia type 45"
},
{
"code" : "589827",
"display" : "Juvenile-onset Steinert myotonic dystrophy"
},
{
"code" : "595105",
"display" : "Timothy syndrome type 2"
},
{
"code" : "597743",
"display" : "SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome"
},
{
"code" : "599490",
"display" : "Acquired factor V deficiency"
},
{
"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" : "600961",
"display" : "Non-syndromic anorectal malformation with rectourethral fistula"
},
{
"code" : "600966",
"display" : "Non-syndromic anorectal malformation with rectourethral fistula, bulbar type"
},
{
"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" : "601028",
"display" : "Non-syndromic anorectal malformation with rectovaginal fistula"
},
{
"code" : "603694",
"display" : "KLHL7-related Crisponi/cold-induced sweating-like syndrome"
},
{
"code" : "610573",
"display" : "CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome"
},
{
"code" : "615954",
"display" : "Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome"
},
{
"code" : "615970",
"display" : "Chronic intervillositis of unknown etiology"
},
{
"code" : "616874",
"display" : "Rare disorder without a determined diagnosis after full investigation"
},
{
"code" : "617449",
"display" : "Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome"
},
{
"code" : "617910",
"display" : "Conjunctival malignant melanoma"
},
{
"code" : "619941",
"display" : "Immune deficiency due to impaired neutrophil phagocytosis and migration"
},
{
"code" : "620198",
"display" : "Non-syndromic bicoronal and metopic craniosynostosis"
},
{
"code" : "620363",
"display" : "Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome"
},
{
"code" : "622925",
"display" : "X-linked severe syndromic thoracic aortic aneurysm and dissection"
},
{
"code" : "624166",
"display" : "Non-specific autoimmune supratentorial encephalitis with characteristic antibodies"
},
{
"code" : "624190",
"display" : "Paraneoplastic isolated brainstem encephalitis"
},
{
"code" : "624216",
"display" : "Non-specific autoimmune brainstem encephalitis without characteristic antibodies"
},
{
"code" : "624259",
"display" : "Non-specific autoimmune cerebellar ataxia with characteristic antibodies"
},
{
"code" : "631068",
"display" : "Autosomal dominant spastic paraplegia type 80"
},
{
"code" : "631082",
"display" : "Autosomal recessive spastic paraplegia type 85"
},
{
"code" : "631085",
"display" : "Autosomal recessive spastic paraplegia type 86"
},
{
"code" : "631106",
"display" : "Spinocerebellar ataxia type 49"
},
{
"code" : "632603",
"display" : "Mesomelic dysplasia-digital anomalies-intellectual disability syndrome"
},
{
"code" : "633076",
"display" : "Split cord malformation, composite type"
},
{
"code" : "634461",
"display" : "Mosaic neurofibromatosis type 1"
},
{
"code" : "636965",
"display" : "Autosomal dominant myosin storage myopathy"
},
{
"code" : "641368",
"display" : "Autosomal recessive hyper-IgE syndrome"
},
{
"code" : "641396",
"display" : "Central nervous system tuberculosis"
},
{
"code" : "642788",
"display" : "Cushing syndrome due to cortisol-producing adrenocortical adenoma"
},
{
"code" : "643538",
"display" : "Hao-Fountain syndrome due to USP7 mutation"
},
{
"code" : "645288",
"display" : "Terminal extramedullary conus spinal cord lipoma"
},
{
"code" : "645362",
"display" : "Dorsal spinal cord lipoma"
},
{
"code" : "645388",
"display" : "Hemi-myelomeningocele"
},
{
"code" : "645393",
"display" : "Hemi-myeloschisis"
},
{
"code" : "647788",
"display" : "Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome"
},
{
"code" : "648681",
"display" : "Immune-mediated scleritis"
},
{
"code" : "648919",
"display" : "Idiopathic catatonia"
},
{
"code" : "650077",
"display" : "Genetic central precocious puberty in female"
},
{
"code" : "650087",
"display" : "Primary central precocious puberty in male"
},
{
"code" : "650102",
"display" : "Non-genetic central precocious puberty in male"
},
{
"code" : "780",
"display" : "Rhabdomyosarcoma"
},
{
"code" : "793",
"display" : "SAPHO syndrome"
},
{
"code" : "797",
"display" : "Sarcoidosis"
},
{
"code" : "798",
"display" : "Schinzel-Giedion syndrome"
},
{
"code" : "803",
"display" : "Amyotrophic lateral sclerosis"
},
{
"code" : "854",
"display" : "Primitive portal vein thrombosis"
},
{
"code" : "874",
"display" : "Primary adult heart tumor"
},
{
"code" : "889",
"display" : "Cutaneous small vessel vasculitis"
},
{
"code" : "892",
"display" : "Von Hippel-Lindau disease"
},
{
"code" : "903",
"display" : "Von Willebrand disease"
},
{
"code" : "905",
"display" : "Wilson disease"
},
{
"code" : "920",
"display" : "Ablepharon macrostomia syndrome"
},
{
"code" : "939",
"display" : "3-hydroxyisobutyric aciduria"
},
{
"code" : "958",
"display" : "Acro-renal-mandibular syndrome"
},
{
"code" : "959",
"display" : "Acro-renal-ocular syndrome"
},
{
"code" : "969",
"display" : "Acromicric dysplasia"
},
{
"code" : "1005",
"display" : "Alopecia-contractures-dwarfism-intellectual disability syndrome"
},
{
"code" : "1052",
"display" : "Mosaic variegated aneuploidy syndrome"
},
{
"code" : "1063",
"display" : "Tufted angioma"
},
{
"code" : "1074",
"display" : "Ankyloblepharon filiforme adnatum-imperforate anus syndrome"
},
{
"code" : "1112",
"display" : "Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome"
},
{
"code" : "1160",
"display" : "Chylous ascites"
},
{
"code" : "1178",
"display" : "Ataxia-tapetoretinal degeneration syndrome"
},
{
"code" : "1180",
"display" : "Ataxia-hypogonadism-choroidal dystrophy syndrome"
},
{
"code" : "1194",
"display" : "TMEM70-related mitochondrial encephalo-cardio-myopathy"
},
{
"code" : "1201",
"display" : "Small bowel atresia"
},
{
"code" : "1209",
"display" : "Tricuspid atresia"
},
{
"code" : "1214",
"display" : "Progressive hemifacial atrophy"
},
{
"code" : "1223",
"display" : "Balantidiasis"
},
{
"code" : "1231",
"display" : "Barber-Say syndrome"
},
{
"code" : "1270",
"display" : "Bowen-Conradi syndrome"
},
{
"code" : "1278",
"display" : "Brachydactyly-preaxial hallux varus syndrome"
},
{
"code" : "1302",
"display" : "Cryptogenic organizing pneumonia"
},
{
"code" : "1304",
"display" : "Brucellosis"
},
{
"code" : "1335",
"display" : "Pentalogy of Cantrell"
},
{
"code" : "1377",
"display" : "Cataract-microcornea syndrome"
},
{
"code" : "1410",
"display" : "Uncombable hair syndrome"
},
{
"code" : "1445",
"display" : "Ring chromosome 21 syndrome"
},
{
"code" : "1453",
"display" : "Cleidorhizomelic syndrome"
},
{
"code" : "1454",
"display" : "Joubert syndrome with hepatic defect"
},
{
"code" : "1486",
"display" : "Lethal congenital contracture syndrome type 1"
},
{
"code" : "1508",
"display" : "Coxoauricular syndrome"
},
{
"code" : "1513",
"display" : "Craniodiaphyseal dysplasia"
},
{
"code" : "1520",
"display" : "Craniofrontonasal dysplasia"
},
{
"code" : "1525",
"display" : "Cranio-osteoarthropathy"
},
{
"code" : "1527",
"display" : "Craniosynostosis, Philadelphia type"
},
{
"code" : "1556",
"display" : "Cutis marmorata telangiectatica congenita"
},
{
"code" : "1600",
"display" : "Monosomy 18q"
},
{
"code" : "1642",
"display" : "Distal deletion 9p"
},
{
"code" : "1671",
"display" : "Split cord malformation type I"
},
{
"code" : "1685",
"display" : "Distomatosis"
},
{
"code" : "1711",
"display" : "Mosaic trisomy 17"
},
{
"code" : "1715",
"display" : "Trisomy 18p"
},
{
"code" : "1765",
"display" : "Dyschondrosteosis-nephritis syndrome"
},
{
"code" : "1766",
"display" : "Dysequilibrium syndrome"
},
{
"code" : "1770",
"display" : "XY type gonadal dysgenesis-associated anomalies syndrome"
},
{
"code" : "1779",
"display" : "Dysmorphism-cleft palate-loose skin syndrome"
},
{
"code" : "1798",
"display" : "Dysostosis, Stanescu type"
},
{
"code" : "1799",
"display" : "Familial developmental dysphasia"
},
{
"code" : "1842",
"display" : "Bone dysplasia, lethal Holmgren type"
},
{
"code" : "1855",
"display" : "Spondyloenchondrodysplasia"
},
{
"code" : "1860",
"display" : "Thanatophoric dysplasia type 1"
},
{
"code" : "1861",
"display" : "Thoracic dysplasia-hydrocephalus syndrome"
},
{
"code" : "1891",
"display" : "Intellectual disability-spasticity-ectrodactyly syndrome"
},
{
"code" : "1909",
"display" : "Indomethacin embryofetopathy"
},
{
"code" : "1912",
"display" : "Fetal hydantoin syndrome"
},
{
"code" : "1937",
"display" : "Eng-Strom syndrome"
},
{
"code" : "1946",
"display" : "Amelocerebrohypohidrotic syndrome"
},
{
"code" : "2017",
"display" : "Sternal cleft"
},
{
"code" : "2025",
"display" : "Gingival fibromatosis-facial dysmorphism syndrome"
},
{
"code" : "2027",
"display" : "Gingival fibromatosis-progressive deafness syndrome"
},
{
"code" : "2035",
"display" : "Lymphatic filariasis"
},
{
"code" : "2039",
"display" : "Congenital systemic arteriovenous fistula"
},
{
"code" : "2062",
"display" : "Progressive non-infectious anterior vertebral fusion"
},
{
"code" : "2065",
"display" : "Galloway-Mowat syndrome"
},
{
"code" : "2083",
"display" : "Prominent glabella-microcephaly-hypogenitalism syndrome"
},
{
"code" : "2091",
"display" : "Multinodular goiter-cystic kidney-polydactyly syndrome"
},
{
"code" : "2092",
"display" : "Focal dermal hypoplasia"
},
{
"code" : "2131",
"display" : "Alternating hemiplegia of childhood"
},
{
"code" : "2139",
"display" : "Hernández-Aguirre Negrete syndrome"
},
{
"code" : "2140",
"display" : "Congenital diaphragmatic hernia"
},
{
"code" : "2141",
"display" : "Diaphragmatic defect-limb deficiency-skull defect syndrome"
},
{
"code" : "2155",
"display" : "Hirschsprung disease-deafness-polydactyly syndrome"
},
{
"code" : "2162",
"display" : "Holoprosencephaly"
},
{
"code" : "2195",
"display" : "Dicarboxylic aminoaciduria"
},
{
"code" : "2196",
"display" : "Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement"
},
{
"code" : "2200",
"display" : "Focal palmoplantar and gingival keratoderma"
},
{
"code" : "2220",
"display" : "Hypertrichosis cubiti"
},
{
"code" : "2224",
"display" : "Hypertryptophanemia"
},
{
"code" : "2252",
"display" : "Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome"
},
{
"code" : "2254",
"display" : "Pontocerebellar hypoplasia type 1"
},
{
"code" : "2256",
"display" : "Fibulo-ulnar hypoplasia-renal anomalies syndrome"
},
{
"code" : "2269",
"display" : "Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome"
},
{
"code" : "2274",
"display" : "Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome"
},
{
"code" : "2282",
"display" : "Dysmorphism-short stature-deafness-difference of sex development syndrome"
},
{
"code" : "2301",
"display" : "Congenital short bowel syndrome"
},
{
"code" : "2323",
"display" : "Sanjad-Sakati syndrome"
},
{
"code" : "2333",
"display" : "Kenny-Caffey syndrome"
},
{
"code" : "2334",
"display" : "Autosomal dominant keratitis"
},
{
"code" : "2342",
"display" : "Haim-Munk syndrome"
},
{
"code" : "2351",
"display" : "Kousseff syndrome"
},
{
"code" : "2356",
"display" : "Arachnoid cyst"
},
{
"code" : "2371",
"display" : "Lethal Larsen-like syndrome"
},
{
"code" : "2399",
"display" : "Nasopalpebral lipoma-coloboma syndrome"
},
{
"code" : "2427",
"display" : "Macrocephaly-short stature-paraplegia syndrome"
},
{
"code" : "2432",
"display" : "Macrosomia-microphthalmia-cleft palate syndrome"
},
{
"code" : "2462",
"display" : "Shprintzen-Goldberg syndrome"
},
{
"code" : "2494",
"display" : "Ménétrier disease"
},
{
"code" : "2497",
"display" : "Upper limb mesomelic dysplasia"
},
{
"code" : "2573",
"display" : "Moyamoya disease"
},
{
"code" : "2578",
"display" : "Mayer-Rokitansky-Küster-Hauser syndrome type 2"
},
{
"code" : "2583",
"display" : "Mycetoma"
},
{
"code" : "2604",
"display" : "Familial visceral myopathy"
},
{
"code" : "2609",
"display" : "Isolated complex I deficiency"
},
{
"code" : "2637",
"display" : "Microcephalic osteodysplastic primordial dwarfism type II"
},
{
"code" : "2646",
"display" : "Parastremmatic dwarfism"
},
{
"code" : "2663",
"display" : "Nathalie syndrome"
},
{
"code" : "2669",
"display" : "Nephrosis-deafness-urinary tract-digital malformations syndrome"
},
{
"code" : "2698",
"display" : "Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome"
},
{
"code" : "2715",
"display" : "Severe oculo-renal-cerebellar syndrome"
},
{
"code" : "2721",
"display" : "Odonto-onycho-dermal dysplasia"
},
{
"code" : "2729",
"display" : "Okamoto syndrome"
},
{
"code" : "2750",
"display" : "Orofaciodigital syndrome type 1"
},
{
"code" : "2755",
"display" : "Orofaciodigital syndrome type 8"
},
{
"code" : "2764",
"display" : "Osteochondritis dissecans"
},
{
"code" : "2769",
"display" : "Familial osteodysplasia, Anderson type"
},
{
"code" : "2779",
"display" : "Osteopathia striata-pigmentary dermopathy-white forelock syndrome"
},
{
"code" : "2780",
"display" : "Osteopathia striata-cranial sclerosis syndrome"
},
{
"code" : "2788",
"display" : "Osteoporosis-pseudoglioma syndrome"
},
{
"code" : "2812",
"display" : "Parana hard skin syndrome"
},
{
"code" : "2826",
"display" : "Spastic paraplegia-precocious puberty syndrome"
},
{
"code" : "2832",
"display" : "Short tarsus-absence of lower eyelashes syndrome"
},
{
"code" : "2834",
"display" : "Wrinkly skin syndrome"
},
{
"code" : "2849",
"display" : "Perlman syndrome"
},
{
"code" : "2868",
"display" : "Short stature-valvular heart disease-characteristic facies syndrome"
},
{
"code" : "2876",
"display" : "PHAVER syndrome"
},
{
"code" : "2888",
"display" : "Pierre Robin syndrome-faciodigital anomaly syndrome"
},
{
"code" : "2899",
"display" : "Brachyolmia-amelogenesis imperfecta syndrome"
},
{
"code" : "2907",
"display" : "Hereditary acrokeratotic poikiloderma"
},
{
"code" : "2911",
"display" : "Poland syndrome"
},
{
"code" : "2912",
"display" : "Poliomyelitis"
},
{
"code" : "2956",
"display" : "Acrodysplasia scoliosis"
},
{
"code" : "2959",
"display" : "Progeria-short stature-pigmented nevi syndrome"
},
{
"code" : "2967",
"display" : "Transcobalamin I deficiency"
},
{
"code" : "2969",
"display" : "Proteus-like syndrome"
},
{
"code" : "2999",
"display" : "Ptosis-strabismus-ectopic pupils syndrome"
},
{
"code" : "3011",
"display" : "Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome"
},
{
"code" : "3020",
"display" : "Ramsay Hunt syndrome"
},
{
"code" : "3038",
"display" : "Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome"
},
{
"code" : "3057",
"display" : "Monoamine oxidase A deficiency"
},
{
"code" : "3086",
"display" : "Autosomal dominant vitreoretinochoroidopathy"
},
{
"code" : "3107",
"display" : "Autosomal dominant Robinow syndrome"
},
{
"code" : "3115",
"display" : "Roussy-Lévy syndrome"
},
{
"code" : "3124",
"display" : "Saccharopinuria"
},
{
"code" : "3130",
"display" : "Satoyoshi syndrome"
},
{
"code" : "3138",
"display" : "Ulnar-mammary syndrome"
},
{
"code" : "3156",
"display" : "Senior-Loken syndrome"
},
{
"code" : "3166",
"display" : "Sialuria"
},
{
"code" : "3169",
"display" : "Sirenomelia"
},
{
"code" : "3197",
"display" : "Hereditary hyperekplexia"
},
{
"code" : "3216",
"display" : "Conductive deafness-malformed external ear syndrome"
},
{
"code" : "3241",
"display" : "Deafness-craniofacial syndrome"
},
{
"code" : "3242",
"display" : "Renpenning syndrome"
},
{
"code" : "3259",
"display" : "Syndactyly-polydactyly-ear lobe syndrome"
},
{
"code" : "3262",
"display" : "Dobrow syndrome"
},
{
"code" : "3266",
"display" : "Humero-radio-ulnar synostosis"
},
{
"code" : "3286",
"display" : "Catecholaminergic polymorphic ventricular tachycardia"
},
{
"code" : "3307",
"display" : "Tetrasomy 18p"
},
{
"code" : "3324",
"display" : "Familial thrombomodulin anomalies"
},
{
"code" : "3325",
"display" : "Heparin-induced thrombocytopenia"
},
{
"code" : "3329",
"display" : "Tibial aplasia-ectrodactyly syndrome"
},
{
"code" : "3347",
"display" : "Mounier-Kühn syndrome"
},
{
"code" : "3365",
"display" : "Trigonocephaly-broad thumbs syndrome"
},
{
"code" : "3375",
"display" : "Trisomy X"
},
{
"code" : "3385",
"display" : "African trypanosomiasis"
},
{
"code" : "3386",
"display" : "American trypanosomiasis"
},
{
"code" : "3403",
"display" : "Uhl anomaly"
},
{
"code" : "3405",
"display" : "Umbilical cord ulceration-intestinal atresia syndrome"
},
{
"code" : "3447",
"display" : "Weaver syndrome"
},
{
"code" : "3466",
"display" : "WT limb-blood syndrome"
},
{
"code" : "32960",
"display" : "Tumor necrosis factor receptor 1 associated periodic syndrome"
},
{
"code" : "33108",
"display" : "Lethal multiple pterygium syndrome"
},
{
"code" : "33445",
"display" : "Neuroectodermal melanolysosomal disease"
},
{
"code" : "33573",
"display" : "Gamma-glutamyl transpeptidase deficiency"
},
{
"code" : "34520",
"display" : "Congenital muscular dystrophy with integrin alpha-7 deficiency"
},
{
"code" : "34592",
"display" : "Immunodeficiency by defective expression of MHC class I"
},
{
"code" : "35078",
"display" : "T-B+ severe combined immunodeficiency due to JAK3 deficiency"
},
{
"code" : "35125",
"display" : "Epidermal nevus syndrome"
},
{
"code" : "35704",
"display" : "L-Arginine:glycine amidinotransferase deficiency"
},
{
"code" : "35706",
"display" : "Glutaric acidemia type 3"
},
{
"code" : "36387",
"display" : "Generalized epilepsy with febrile seizures-plus"
},
{
"code" : "37748",
"display" : "Schnitzler syndrome"
},
{
"code" : "40366",
"display" : "Acitretin/etretinate embryopathy"
},
{
"code" : "40923",
"display" : "Eales disease"
},
{
"code" : "43115",
"display" : "Hereditary myopathy with lactic acidosis due to ISCU deficiency"
},
{
"code" : "43393",
"display" : "Lambert-Eaton myasthenic syndrome"
},
{
"code" : "46627",
"display" : "Char syndrome"
},
{
"code" : "48435",
"display" : "Postinfectious vasculitis"
},
{
"code" : "49827",
"display" : "Thiamine-responsive megaloblastic anemia syndrome"
},
{
"code" : "50251",
"display" : "Pleural mesothelioma"
},
{
"code" : "50809",
"display" : "Talo-patello-scaphoid osteolysis"
},
{
"code" : "50811",
"display" : "Lipodystrophy-intellectual disability-deafness syndrome"
},
{
"code" : "50812",
"display" : "Zellweger-like syndrome without peroxisomal anomalies"
},
{
"code" : "50942",
"display" : "Striate palmoplantar keratoderma"
},
{
"code" : "50944",
"display" : "Schöpf-Schulz-Passarge syndrome"
},
{
"code" : "51188",
"display" : "Ethylmalonic encephalopathy"
},
{
"code" : "52054",
"display" : "Craniosynostosis-intracranial calcifications syndrome"
},
{
"code" : "52416",
"display" : "Mantle cell lymphoma"
},
{
"code" : "53035",
"display" : "Caroli disease"
},
{
"code" : "53583",
"display" : "Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity"
},
{
"code" : "53721",
"display" : "Spinal arteriovenous metameric syndrome"
},
{
"code" : "56305",
"display" : "Atelosteogenesis type III"
},
{
"code" : "60039",
"display" : "Pudendal neuralgia"
},
{
"code" : "63269",
"display" : "Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis"
},
{
"code" : "63275",
"display" : "Pemphigoid gestationis"
},
{
"code" : "63455",
"display" : "Paraneoplastic pemphigus"
},
{
"code" : "64753",
"display" : "Spinocerebellar ataxia with axonal neuropathy type 2"
},
{
"code" : "64754",
"display" : "Nevus comedonicus syndrome"
},
{
"code" : "65285",
"display" : "Lhermitte-Duclos disease"
},
{
"code" : "65286",
"display" : "3q29 microdeletion syndrome"
},
{
"code" : "65681",
"display" : "Vaginal atresia"
},
{
"code" : "66624",
"display" : "PANDAS"
},
{
"code" : "66627",
"display" : "Tenosynovial giant cell tumor"
},
{
"code" : "66629",
"display" : "Goldberg-Shprintzen megacolon syndrome"
},
{
"code" : "69084",
"display" : "Pure hair and nail ectodermal dysplasia"
},
{
"code" : "69663",
"display" : "Low phospholipid-associated cholelithiasis"
},
{
"code" : "69735",
"display" : "Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome"
},
{
"code" : "69736",
"display" : "Bilateral acute depigmentation of the iris"
},
{
"code" : "70472",
"display" : "Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type"
},
{
"code" : "70475",
"display" : "Radiation proctitis"
},
{
"code" : "70568",
"display" : "Post-transplant lymphoproliferative disease"
},
{
"code" : "70578",
"display" : "Adult acute respiratory distress syndrome"
},
{
"code" : "70589",
"display" : "Bronchopulmonary dysplasia"
},
{
"code" : "70592",
"display" : "Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency"
},
{
"code" : "71212",
"display" : "Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency"
},
{
"code" : "73245",
"display" : "Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome"
},
{
"code" : "73271",
"display" : "Bleeding diathesis due to a collagen receptor defect"
},
{
"code" : "75326",
"display" : "Retinal arterial tortuosity"
},
{
"code" : "77297",
"display" : "Majeed syndrome"
},
{
"code" : "77298",
"display" : "Anophthalmia/microphthalmia-esophageal atresia syndrome"
},
{
"code" : "79076",
"display" : "Juvenile polyposis of infancy"
},
{
"code" : "79084",
"display" : "Familial partial lipodystrophy, Köbberling type"
},
{
"code" : "79093",
"display" : "Foix-Alajouanine syndrome"
},
{
"code" : "79095",
"display" : "Congenital bile acid synthesis defect type 4"
},
{
"code" : "79126",
"display" : "Acute interstitial pneumonia"
},
{
"code" : "79127",
"display" : "Respiratory bronchiolitis-interstitial lung disease syndrome"
},
{
"code" : "79135",
"display" : "Episodic ataxia type 3"
},
{
"code" : "79136",
"display" : "Episodic ataxia type 4"
},
{
"code" : "79137",
"display" : "Generalized epilepsy-paroxysmal dyskinesia syndrome"
},
{
"code" : "79146",
"display" : "Familial progressive hyperpigmentation"
},
{
"code" : "79153",
"display" : "Idiopathic trachyonychia"
},
{
"code" : "79155",
"display" : "Hydroxykynureninuria"
},
{
"code" : "79159",
"display" : "Isobutyryl-CoA dehydrogenase deficiency"
},
{
"code" : "79230",
"display" : "HJV or HAMP-related hemochromatosis"
},
{
"code" : "79238",
"display" : "Galactose epimerase deficiency"
},
{
"code" : "79241",
"display" : "Biotinidase deficiency"
},
{
"code" : "79269",
"display" : "Sanfilippo syndrome type A"
},
{
"code" : "79270",
"display" : "Sanfilippo syndrome type B"
},
{
"code" : "79278",
"display" : "Autosomal erythropoietic protoporphyria"
},
{
"code" : "79293",
"display" : "Familial LCAT deficiency"
},
{
"code" : "79314",
"display" : "L-2-hydroxyglutaric aciduria"
},
{
"code" : "79394",
"display" : "Congenital ichthyosiform erythroderma"
},
{
"code" : "79404",
"display" : "Severe generalized junctional epidermolysis bullosa"
},
{
"code" : "79432",
"display" : "Oculocutaneous albinism type 2"
},
{
"code" : "79435",
"display" : "Oculocutaneous albinism type 4"
},
{
"code" : "79445",
"display" : "Pseudopseudohypoparathyroidism"
},
{
"code" : "79452",
"display" : "Milroy disease"
},
{
"code" : "79474",
"display" : "Atypical Werner syndrome"
},
{
"code" : "79493",
"display" : "Brooke-Spiegler syndrome"
},
{
"code" : "83317",
"display" : "Scrub typhus"
},
{
"code" : "83451",
"display" : "Florid cemento-osseous dysplasia"
},
{
"code" : "83593",
"display" : "Western equine encephalitis"
},
{
"code" : "83642",
"display" : "Microcytic anemia with liver iron overload"
},
{
"code" : "85138",
"display" : "Addison disease"
},
{
"code" : "85172",
"display" : "Microcephalic osteodysplastic dysplasia, Saul-Wilson type"
},
{
"code" : "85191",
"display" : "Singleton-Merten dysplasia"
},
{
"code" : "85199",
"display" : "Craniosynostosis-anal anomalies-porokeratosis syndrome"
},
{
"code" : "85273",
"display" : "X-linked intellectual disability, Abidi type"
},
{
"code" : "85275",
"display" : "Microphthalmia-ankyloblepharon-intellectual disability syndrome"
},
{
"code" : "85322",
"display" : "X-linked intellectual disability, Pai type"
},
{
"code" : "85414",
"display" : "Systemic-onset juvenile idiopathic arthritis"
},
{
"code" : "86817",
"display" : "Hemolytic anemia due to adenylate kinase deficiency"
},
{
"code" : "86839",
"display" : "Refractory anemia with excess blasts"
},
{
"code" : "86843",
"display" : "Acute panmyelosis with myelofibrosis"
},
{
"code" : "86854",
"display" : "Splenic marginal zone lymphoma"
},
{
"code" : "86886",
"display" : "Angioimmunoblastic T-cell lymphoma"
},
{
"code" : "88616",
"display" : "Autosomal recessive non-syndromic intellectual disability"
},
{
"code" : "88939",
"display" : "Pseudohypoaldosteronism type 2B"
},
{
"code" : "88949",
"display" : "MUC1-related autosomal dominant tubulointerstitial kidney disease"
},
{
"code" : "90020",
"display" : "Parkinson-dementia complex of Guam"
},
{
"code" : "90021",
"display" : "Radiation myelitis"
},
{
"code" : "90066",
"display" : "Pneumonia caused by Pseudomonas aeruginosa infection"
},
{
"code" : "90069",
"display" : "Systemic monochloroacetate poisoning"
},
{
"code" : "90117",
"display" : "Hereditary motor and sensory neuropathy, Okinawa type"
},
{
"code" : "90186",
"display" : "Meige disease"
},
{
"code" : "90389",
"display" : "Telangiectasia macularis eruptiva perstans"
},
{
"code" : "90400",
"display" : "Scleromyxedema without monoclonal gammopathy"
},
{
"code" : "90794",
"display" : "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency"
},
{
"code" : "91352",
"display" : "Germinoma of the central nervous system"
},
{
"code" : "91397",
"display" : "Isolated ankyloblepharon filiforme adnatum"
},
{
"code" : "91416",
"display" : "Isolated congenital alacrima"
},
{
"code" : "91496",
"display" : "Snowflake vitreoretinal degeneration"
},
{
"code" : "91547",
"display" : "Relapsing fever"
},
{
"code" : "93101",
"display" : "Renal hypoplasia"
},
{
"code" : "93109",
"display" : "Congenital megacalycosis"
},
{
"code" : "93256",
"display" : "Fragile X-associated tremor/ataxia syndrome"
},
{
"code" : "93258",
"display" : "Pfeiffer syndrome type 1"
},
{
"code" : "93267",
"display" : "Cloverleaf skull-multiple congenital anomalies syndrome"
},
{
"code" : "93270",
"display" : "Short rib-polydactyly syndrome, Saldino-Noonan type"
},
{
"code" : "93279",
"display" : "Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis"
},
{
"code" : "93307",
"display" : "Multiple epiphyseal dysplasia type 4"
},
{
"code" : "93315",
"display" : "Spondylometaphyseal dysplasia, 'corner fracture' type"
},
{
"code" : "93322",
"display" : "Tibial hemimelia"
},
{
"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" : "93358",
"display" : "Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome"
},
{
"code" : "93396",
"display" : "Brachydactyly type A2"
},
{
"code" : "93399",
"display" : "Juvenile sialidosis type 2"
},
{
"code" : "93600",
"display" : "Primary hyperoxaluria type 3"
},
{
"code" : "93602",
"display" : "Xanthinuria type II"
},
{
"code" : "93613",
"display" : "Cystinuria type B"
},
{
"code" : "93930",
"display" : "Bladder exstrophy"
},
{
"code" : "93939",
"display" : "Laryngotracheoesophageal cleft type 2"
},
{
"code" : "93946",
"display" : "Hamel cerebro-palato-cardiac syndrome"
},
{
"code" : "93976",
"display" : "Anotia"
},
{
"code" : "94056",
"display" : "Humero-ulnar synostosis"
},
{
"code" : "94063",
"display" : "12q14 microdeletion syndrome"
},
{
"code" : "94087",
"display" : "Cytophagic histiocytic panniculitis"
},
{
"code" : "94125",
"display" : "Recessive mitochondrial ataxia syndrome"
},
{
"code" : "95409",
"display" : "Acute adrenal insufficiency"
},
{
"code" : "95430",
"display" : "Congenital tracheomalacia"
},
{
"code" : "95431",
"display" : "Twin to twin transfusion syndrome"
},
{
"code" : "95443",
"display" : "Mesocardia"
},
{
"code" : "95462",
"display" : "Accessory tricuspid valve tissue"
},
{
"code" : "95491",
"display" : "Congenital coronary artery aneurysm"
},
{
"code" : "95507",
"display" : "Congenital anomaly of hepatic vein"
},
{
"code" : "95699",
"display" : "Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency"
},
{
"code" : "96071",
"display" : "Distal duplication 3p"
},
{
"code" : "96101",
"display" : "Distal duplication 9q"
},
{
"code" : "96112",
"display" : "Non-distal duplication 9q"
},
{
"code" : "96129",
"display" : "Distal deletion 19p"
},
{
"code" : "96145",
"display" : "Distal deletion 4q"
},
{
"code" : "96169",
"display" : "Koolen-De Vries syndrome"
},
{
"code" : "96171",
"display" : "Ring chromosome 2 syndrome"
},
{
"code" : "96178",
"display" : "Ring chromosome 16 syndrome"
},
{
"code" : "96184",
"display" : "Temple syndrome due to maternal uniparental disomy of chromosome 14"
},
{
"code" : "96188",
"display" : "Maternal uniparental disomy of chromosome 22"
},
{
"code" : "97230",
"display" : "Solar urticaria"
},
{
"code" : "97232",
"display" : "Fingerprint body myopathy"
},
{
"code" : "97282",
"display" : "VIPoma"
},
{
"code" : "97336",
"display" : "Panner disease"
},
{
"code" : "97355",
"display" : "Caribbean parkinsonism"
},
{
"code" : "97566",
"display" : "Non-amyloid fibrillary glomerulopathy"
},
{
"code" : "98759",
"display" : "Spinocerebellar ataxia type 17"
},
{
"code" : "98765",
"display" : "Spinocerebellar ataxia type 4"
},
{
"code" : "98791",
"display" : "Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16"
},
{
"code" : "98823",
"display" : "Chronic myelomonocytic leukemia"
},
{
"code" : "98832",
"display" : "Acute myeloid leukemia with minimal differentiation"
},
{
"code" : "98838",
"display" : "Primary mediastinal large B-cell lymphoma"
},
{
"code" : "98846",
"display" : "Classic Hodgkin lymphoma, lymphocyte-depleted type"
},
{
"code" : "98863",
"display" : "X-linked Emery-Dreifuss muscular dystrophy"
},
{
"code" : "98871",
"display" : "Transient erythroblastopenia of childhood"
},
{
"code" : "98892",
"display" : "Periventricular nodular heterotopia"
},
{
"code" : "98896",
"display" : "Duchenne muscular dystrophy"
},
{
"code" : "98934",
"display" : "Huntington disease-like 2"
},
{
"code" : "98943",
"display" : "Coloboma of eye lens"
},
{
"code" : "98954",
"display" : "Meesmann corneal dystrophy"
},
{
"code" : "98962",
"display" : "Granular corneal dystrophy type I"
},
{
"code" : "98967",
"display" : "Schnyder corneal dystrophy"
},
{
"code" : "98970",
"display" : "Fleck corneal dystrophy"
},
{
"code" : "98975",
"display" : "Congenital hereditary endothelial dystrophy type I"
},
{
"code" : "98979",
"display" : "Chandler syndrome"
},
{
"code" : "98981",
"display" : "Essential iris atrophy"
},
{
"code" : "98990",
"display" : "Coralliform cataract"
},
{
"code" : "99014",
"display" : "X-linked Charcot-Marie-Tooth disease type 5"
},
{
"code" : "99057",
"display" : "Congenital mitral stenosis"
},
{
"code" : "99058",
"display" : "Hypoplasia of the mitral valve annulus"
},
{
"code" : "99062",
"display" : "Mitral valve agenesis"
},
{
"code" : "99082",
"display" : "Dysphagia lusoria"
},
{
"code" : "99110",
"display" : "Right superior vena cava connecting to left-sided atrium"
},
{
"code" : "99120",
"display" : "Persistent eustachian valve"
},
{
"code" : "99179",
"display" : "Kandori fleck retina"
},
{
"code" : "99226",
"display" : "Monosomy X"
},
{
"code" : "99228",
"display" : "Mosaic monosomy X"
},
{
"code" : "99361",
"display" : "Familial medullary thyroid carcinoma"
},
{
"code" : "99413",
"display" : "Turner syndrome due to structural X chromosome anomalies"
},
{
"code" : "99688",
"display" : "Dermotrichic syndrome"
},
{
"code" : "99748",
"display" : "Pontiac fever"
},
{
"code" : "99772",
"display" : "Cleft velum"
},
{
"code" : "99792",
"display" : "Dentin dysplasia-sclerotic bones syndrome"
},
{
"code" : "99811",
"display" : "Neuronal intestinal pseudoobstruction"
},
{
"code" : "99829",
"display" : "Yellow fever"
},
{
"code" : "99879",
"display" : "Familial isolated hyperparathyroidism"
},
{
"code" : "99905",
"display" : "Streptobacillary rat-bite fever"
},
{
"code" : "99912",
"display" : "Malignant dysgerminomatous germ cell tumor of the ovary"
},
{
"code" : "99939",
"display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2E"
},
{
"code" : "99944",
"display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2K"
},
{
"code" : "99948",
"display" : "Charcot-Marie-Tooth disease type 4A"
},
{
"code" : "99953",
"display" : "Charcot-Marie-Tooth disease type 4G"
},
{
"code" : "99965",
"display" : "O'Sullivan-McLeod syndrome"
},
{
"code" : "99991",
"display" : "Relapsing epidemic typhus"
},
{
"code" : "100001",
"display" : "Sclerosing perineurioma"
},
{
"code" : "100025",
"display" : "Alpha-heavy chain disease"
},
{
"code" : "100026",
"display" : "Gamma-heavy chain disease"
},
{
"code" : "100046",
"display" : "Autosomal dominant intermediate Charcot-Marie-Tooth disease type D"
},
{
"code" : "100067",
"display" : "Waterhouse-Friderichsen syndrome"
},
{
"code" : "100085",
"display" : "Primary hepatic neuroendocrine carcinoma"
},
{
"code" : "100086",
"display" : "Gallbladder neuroendocrine tumor"
},
{
"code" : "100986",
"display" : "Autosomal recessive spastic paraplegia type 5A"
},
{
"code" : "100994",
"display" : "Autosomal dominant spastic paraplegia type 13"
},
{
"code" : "101001",
"display" : "Autosomal recessive spastic paraplegia type 21"
},
{
"code" : "101006",
"display" : "Autosomal recessive spastic paraplegia type 26"
},
{
"code" : "101008",
"display" : "Autosomal recessive spastic paraplegia type 28"
},
{
"code" : "101023",
"display" : "Cleft hard palate"
},
{
"code" : "101043",
"display" : "Congenital aortic valve dysplasia"
},
{
"code" : "101088",
"display" : "X-linked hyper-IgM syndrome"
},
{
"code" : "101330",
"display" : "Porphyria cutanea tarda"
},
{
"code" : "103908",
"display" : "Congenital sodium diarrhea"
},
{
"code" : "103909",
"display" : "Trehalase deficiency"
},
{
"code" : "137628",
"display" : "Cardiac anomalies-heterotaxy syndrome"
},
{
"code" : "137639",
"display" : "Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome"
},
{
"code" : "137681",
"display" : "Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1"
},
{
"code" : "137698",
"display" : "Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk"
},
{
"code" : "137810",
"display" : "Nodular cutaneous amyloidosis"
},
{
"code" : "137817",
"display" : "Arachnoiditis"
},
{
"code" : "137820",
"display" : "Extrapelvic endometriosis"
},
{
"code" : "139406",
"display" : "Encephalopathy due to prosaposin deficiency"
},
{
"code" : "139444",
"display" : "Leukoencephalopathy with bilateral anterior temporal lobe cysts"
},
{
"code" : "139485",
"display" : "Autosomal recessive ataxia due to ubiquinone deficiency"
},
{
"code" : "139578",
"display" : "Mutilating hereditary sensory neuropathy with spastic paraplegia"
},
{
"code" : "140286",
"display" : "Secondary hypoparathyroidism due to impaired parathormon secretion"
},
{
"code" : "140927",
"display" : "Benign familial neonatal-infantile seizures"
},
{
"code" : "140933",
"display" : "Linear atrophoderma of Moulin"
},
{
"code" : "140957",
"display" : "Autosomal dominant macrothrombocytopenia"
},
{
"code" : "141007",
"display" : "Orofaciodigital syndrome type 9"
},
{
"code" : "141067",
"display" : "Cervicofacial fibrochondroma"
},
{
"code" : "141107",
"display" : "Nasopharyngeal teratoma"
},
{
"code" : "141121",
"display" : "Congenital subglottic stenosis"
},
{
"code" : "141163",
"display" : "Glossopalatine ankylosis"
},
{
"code" : "141179",
"display" : "Non-involuting congenital hemangioma"
},
{
"code" : "141214",
"display" : "Isolated congenital syngnathia"
},
{
"code" : "141265",
"display" : "Tessier number 6 facial cleft"
},
{
"code" : "141288",
"display" : "Midline cervical cleft"
},
{
"code" : "157215",
"display" : "Hereditary hypophosphatemic rickets with hypercalciuria"
},
{
"code" : "157794",
"display" : "Hereditary mixed polyposis syndrome"
},
{
"code" : "319623",
"display" : "X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency"
},
{
"code" : "324561",
"display" : "Hypopigmentation-punctate palmoplantar keratoderma syndrome"
},
{
"code" : "324581",
"display" : "Benign Samaritan congenital myopathy"
},
{
"code" : "324601",
"display" : "X-linked cleft palate and ankyloglossia"
},
{
"code" : "324703",
"display" : "ABetaL34V amyloidosis"
},
{
"code" : "325448",
"display" : "Leydig cell hypoplasia due to LHB deficiency"
},
{
"code" : "325524",
"display" : "Classic congenital lipoid adrenal hyperplasia due to STAR deficency"
},
{
"code" : "329336",
"display" : "Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy"
},
{
"code" : "329894",
"display" : "Juvenile overlap myositis"
},
{
"code" : "330058",
"display" : "Hydroa vacciniforme"
},
{
"code" : "352479",
"display" : "ISPD-related limb-girdle muscular dystrophy R20"
},
{
"code" : "352490",
"display" : "Autism spectrum disorder due to AUTS2 deficiency"
},
{
"code" : "352712",
"display" : "Facial dysmorphism-immunodeficiency-livedo-short stature syndrome"
},
{
"code" : "352734",
"display" : "Minimal pigment oculocutaneous albinism type 1"
},
{
"code" : "353334",
"display" : "Congenital retinal arteriovenous communication"
},
{
"code" : "356978",
"display" : "D,L-2-hydroxyglutaric aciduria"
},
{
"code" : "357225",
"display" : "Primary non-essential cutis verticis gyrata"
},
{
"code" : "363432",
"display" : "Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency"
},
{
"code" : "363454",
"display" : "BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy"
},
{
"code" : "363528",
"display" : "Intellectual disability-strabismus syndrome"
},
{
"code" : "363611",
"display" : "CTCF-related neurodevelopmental disorder"
},
{
"code" : "363654",
"display" : "X-linked parkinsonism-spasticity syndrome"
},
{
"code" : "363665",
"display" : "Acroosteolysis-keloid-like lesions-premature aging syndrome"
},
{
"code" : "363710",
"display" : "Spinocerebellar ataxia type 37"
},
{
"code" : "363746",
"display" : "Balint syndrome"
},
{
"code" : "363958",
"display" : "17q21.31 microdeletion syndrome"
},
{
"code" : "364577",
"display" : "Intellectual disability-brachydactyly-Pierre Robin syndrome"
},
{
"code" : "369873",
"display" : "Obesity due to SIM1 deficiency"
},
{
"code" : "369992",
"display" : "Severe dermatitis-multiple allergies-metabolic wasting syndrome"
},
{
"code" : "370002",
"display" : "Focal palmoplantar keratoderma with joint keratoses"
},
{
"code" : "370034",
"display" : "Familial syringomyelia"
},
{
"code" : "370980",
"display" : "Congenital muscular dystrophy without intellectual disability"
},
{
"code" : "391366",
"display" : "Growth retardation-mild developmental delay-chronic hepatitis syndrome"
},
{
"code" : "391411",
"display" : "Atypical juvenile parkinsonism"
},
{
"code" : "391490",
"display" : "Adult-onset myasthenia gravis"
},
{
"code" : "391504",
"display" : "Transient neonatal myasthenia gravis"
},
{
"code" : "391651",
"display" : "Glomus tumor"
},
{
"code" : "394532",
"display" : "Multiple acyl-CoA dehydrogenase deficiency, mild type"
},
{
"code" : "397587",
"display" : "Deep dermatophytosis"
},
{
"code" : "397593",
"display" : "Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency"
},
{
"code" : "397615",
"display" : "Obesity due to CEP19 deficiency"
},
{
"code" : "397618",
"display" : "Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome"
},
{
"code" : "397946",
"display" : "Autosomal spastic paraplegia type 58"
},
{
"code" : "398058",
"display" : "Squamous cell carcinoma of the penis"
},
{
"code" : "398147",
"display" : "Persistent idiopathic facial pain"
},
{
"code" : "398987",
"display" : "Malignant teratoma of ovary"
},
{
"code" : "399175",
"display" : "Traumatic avascular necrosis"
},
{
"code" : "399808",
"display" : "Male infertility with teratozoospermia due to single gene mutation"
},
{
"code" : "401764",
"display" : "Pancytopenia-developmental delay syndrome"
},
{
"code" : "401780",
"display" : "Autosomal recessive spastic paraplegia type 61"
},
{
"code" : "401840",
"display" : "Autosomal recessive spastic paraplegia type 71"
},
{
"code" : "401911",
"display" : "AXIN2-related attenuated familial adenomatous polyposis"
},
{
"code" : "401920",
"display" : "Fibrolamellar hepatocellular carcinoma"
},
{
"code" : "401945",
"display" : "Moyamoya disease with early-onset achalasia"
},
{
"code" : "402823",
"display" : "Hepatitis delta"
},
{
"code" : "404437",
"display" : "Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome"
},
{
"code" : "404448",
"display" : "ADNP syndrome"
},
{
"code" : "404521",
"display" : "Spinal muscular atrophy with respiratory distress type 2"
},
{
"code" : "404546",
"display" : "DITRA"
},
{
"code" : "411641",
"display" : "Ocular cystinosis"
},
{
"code" : "411696",
"display" : "Proton-pump inhibitor-responsive esophageal eosinophilia"
},
{
"code" : "411709",
"display" : "Renal agenesis"
},
{
"code" : "411986",
"display" : "Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome"
},
{
"code" : "412057",
"display" : "Autosomal recessive cerebellar ataxia due to STUB1 deficiency"
},
{
"code" : "412217",
"display" : "Dystonia-aphonia syndrome"
},
{
"code" : "418951",
"display" : "Undifferentiated carcinoma of esophagus"
},
{
"code" : "420702",
"display" : "Autosomal recessive severe congenital neutropenia due to CSF3R deficiency"
},
{
"code" : "423384",
"display" : "Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency"
},
{
"code" : "423461",
"display" : "Mucolipidosis type III alpha/beta"
},
{
"code" : "424073",
"display" : "Serous cystadenocarcinoma of pancreas"
},
{
"code" : "424099",
"display" : "Colobomatous microphthalmia-rhizomelic dysplasia syndrome"
},
{
"code" : "435387",
"display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2Y"
},
{
"code" : "435819",
"display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation"
},
{
"code" : "436166",
"display" : "Periodic fever-infantile enterocolitis-autoinflammatory syndrome"
},
{
"code" : "436274",
"display" : "Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa"
},
{
"code" : "438207",
"display" : "Severe autosomal recessive macrothrombocytopenia"
},
{
"code" : "438266",
"display" : "Progressive encephalomyelitis with rigidity and myoclonus"
},
{
"code" : "439196",
"display" : "Zinc-responsive necrolytic acral erythema"
},
{
"code" : "439218",
"display" : "KCNQ2-related epileptic encephalopathy"
},
{
"code" : "440233",
"display" : "Congenital abducens nerve palsy"
},
{
"code" : "441447",
"display" : "Early-onset posterior subcapsular cataract"
},
{
"code" : "444013",
"display" : "Combined oxidative phosphorylation defect type 23"
},
{
"code" : "444092",
"display" : "Autoimmune interstitial lung disease-arthritis 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" : "447961",
"display" : "Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome"
},
{
"code" : "448251",
"display" : "Progressive autosomal recessive ataxia-deafness syndrome"
},
{
"code" : "449285",
"display" : "Snakebite envenomation"
},
{
"code" : "449400",
"display" : "IgG4-related aortitis"
},
{
"code" : "450322",
"display" : "Polyclonal hyperviscosity syndrome"
},
{
"code" : "454723",
"display" : "Endometrioid carcinoma of ovary"
},
{
"code" : "454750",
"display" : "Isolated tracheoesophageal fistula"
},
{
"code" : "29",
"display" : "Mevalonic aciduria"
},
{
"code" : "39",
"display" : "Acromelanosis"
},
{
"code" : "43",
"display" : "X-linked adrenoleukodystrophy"
},
{
"code" : "45",
"display" : "Adenosine monophosphate deaminase deficiency"
},
{
"code" : "46",
"display" : "Adenylosuccinate lyase deficiency"
},
{
"code" : "47",
"display" : "X-linked agammaglobulinemia"
},
{
"code" : "56",
"display" : "Alkaptonuria"
},
{
"code" : "63",
"display" : "Alport syndrome"
},
{
"code" : "70",
"display" : "Proximal spinal muscular atrophy"
},
{
"code" : "83",
"display" : "Antley-Bixler syndrome"
},
{
"code" : "87",
"display" : "Apert syndrome"
},
{
"code" : "109",
"display" : "Bannayan-Riley-Ruvalcaba syndrome"
},
{
"code" : "111",
"display" : "Barth syndrome"
},
{
"code" : "115",
"display" : "Congenital contractural arachnodactyly"
},
{
"code" : "142",
"display" : "Anaplastic thyroid carcinoma"
},
{
"code" : "456318",
"display" : "Hereditary sensory neuropathy-deafness-dementia syndrome"
},
{
"code" : "457050",
"display" : "Autosomal dominant mitochondrial myopathy with exercise intolerance"
},
{
"code" : "457212",
"display" : "Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome"
},
{
"code" : "458718",
"display" : "Idiopathic spontaneous coronary artery dissection"
},
{
"code" : "458785",
"display" : "Partially involuting congenital hemangioma"
},
{
"code" : "459051",
"display" : "Spondyloepiphyseal dysplasia, Stanescu type"
},
{
"code" : "464738",
"display" : "Basel-Vanagaite-Smirin-Yosef syndrome"
},
{
"code" : "466026",
"display" : "Class I glucose-6-phosphate dehydrogenase deficiency"
},
{
"code" : "466926",
"display" : "Seizures-scoliosis-macrocephaly syndrome"
},
{
"code" : "466934",
"display" : "VPS11-related autosomal recessive hypomyelinating leukodystrophy"
},
{
"code" : "468641",
"display" : "Chronic enteropathy associated with SLCO2A1 gene"
},
{
"code" : "468678",
"display" : "White-Sutton syndrome"
},
{
"code" : "476113",
"display" : "Combined immunodeficiency due to TFRC deficiency"
},
{
"code" : "476126",
"display" : "Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome"
},
{
"code" : "477749",
"display" : "Pontine autosomal dominant microangiopathy with leukoencephalopathy"
},
{
"code" : "480491",
"display" : "MYO5B-related progressive familial intrahepatic cholestasis"
},
{
"code" : "482601",
"display" : "Adenylosuccinate synthetase-like 1-related distal myopathy"
},
{
"code" : "494451",
"display" : "Vulvar basal cell carcinoma"
},
{
"code" : "494454",
"display" : "Vulvar adenocarcinoma"
},
{
"code" : "494550",
"display" : "Squamous cell carcinoma of the larynx"
},
{
"code" : "495274",
"display" : "Charcot-Marie-Tooth disease type 2T"
},
{
"code" : "495879",
"display" : "Congenital agenesis of the scrotum"
},
{
"code" : "496686",
"display" : "Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome"
},
{
"code" : "498497",
"display" : "Short rib-polydactyly syndrome type 5"
},
{
"code" : "499085",
"display" : "Chronic relapsing inflammatory optic neuropathy"
},
{
"code" : "499103",
"display" : "Recurrent idiopathic neuroretinitis"
},
{
"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" : "502423",
"display" : "Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome"
},
{
"code" : "502430",
"display" : "Metopic ridging-ptosis-facial dysmorphism syndrome"
},
{
"code" : "505395",
"display" : "Ventilator-induced diaphragmatic dysfunction"
},
{
"code" : "506090",
"display" : "Serotonin-producing neuroendocrine tumor of pancreas"
},
{
"code" : "506358",
"display" : "Gabriele-de Vries syndrome"
},
{
"code" : "519388",
"display" : "Autosomal recessive anterior segment dysgenesis"
},
{
"code" : "519404",
"display" : "Optic disc pit"
},
{
"code" : "521258",
"display" : "Xq25 microduplication syndrome"
},
{
"code" : "521426",
"display" : "PLAA-associated neurodevelopmental disorder"
},
{
"code" : "521450",
"display" : "LAMA5-related multisystemic syndrome"
},
{
"code" : "522037",
"display" : "Primary autoimmune enteropathy"
},
{
"code" : "529977",
"display" : "Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome"
},
{
"code" : "530838",
"display" : "KRT1-related diffuse nonepidermolytic keratoderma"
},
{
"code" : "530983",
"display" : "Lamb-Shaffer syndrome"
},
{
"code" : "535453",
"display" : "Familial lipase maturation factor 1 deficiency"
},
{
"code" : "536471",
"display" : "Spondylodysplastic Ehlers-Danlos syndrome"
},
{
"code" : "538934",
"display" : "X-linked lymphoproliferative disease due to XIAP deficiency"
},
{
"code" : "542310",
"display" : "Leukoencephalopathy with calcifications and cysts"
},
{
"code" : "542592",
"display" : "Necrobiosis lipoidica"
},
{
"code" : "542657",
"display" : "Isolated hyperchlorhidrosis"
},
{
"code" : "544482",
"display" : "Infection-related hemolytic uremic syndrome"
},
{
"code" : "544488",
"display" : "Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome"
},
{
"code" : "544503",
"display" : "RNF13-related severe early-onset epileptic encephalopathy"
},
{
"code" : "555877",
"display" : "FLNA-related X-linked myxomatous valvular dysplasia"
},
{
"code" : "561854",
"display" : "FOXG1 syndrome"
},
{
"code" : "562509",
"display" : "Heme oxygenase-1 deficiency"
},
{
"code" : "562559",
"display" : "Anterior maxillary protrusion-strabismus-intellectual disability syndrome"
},
{
"code" : "562569",
"display" : "TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome"
},
{
"code" : "563690",
"display" : "Furuncular myiasis due to Cordylobia rodhaini"
},
{
"code" : "145",
"display" : "Hereditary breast and/or ovarian cancer syndrome"
},
{
"code" : "154",
"display" : "Familial isolated dilated cardiomyopathy"
},
{
"code" : "169",
"display" : "Ringed hair disease"
},
{
"code" : "170",
"display" : "Woolly hair"
},
{
"code" : "173",
"display" : "Cholera"
},
{
"code" : "185",
"display" : "Scimitar syndrome"
},
{
"code" : "186",
"display" : "Primary biliary cholangitis"
},
{
"code" : "195",
"display" : "Cat-eye syndrome"
},
{
"code" : "235",
"display" : "Dubowitz syndrome"
},
{
"code" : "249",
"display" : "Fibrous dysplasia of bone"
},
{
"code" : "280",
"display" : "Wolf-Hirschhorn syndrome"
},
{
"code" : "295",
"display" : "Fetal parvovirus syndrome"
},
{
"code" : "297",
"display" : "Tick-borne encephalitis"
},
{
"code" : "302",
"display" : "Epidermodysplasia verruciformis"
},
{
"code" : "317",
"display" : "Erythrokeratodermia variabilis"
},
{
"code" : "330",
"display" : "Congenital factor XII deficiency"
},
{
"code" : "335",
"display" : "Congenital fibrinogen deficiency"
},
{
"code" : "342",
"display" : "Familial Mediterranean fever"
},
{
"code" : "343",
"display" : "Hyperimmunoglobulinemia D with periodic fever"
},
{
"code" : "348",
"display" : "Fructose-1,6-bisphosphatase deficiency"
},
{
"code" : "349",
"display" : "Fucosidosis"
},
{
"code" : "366",
"display" : "Glycogen storage disease due to glycogen debranching enzyme deficiency"
},
{
"code" : "368",
"display" : "Glycogen storage disease due to muscle glycogen phosphorylase deficiency"
},
{
"code" : "371",
"display" : "Glycogen storage disease due to muscle phosphofructokinase deficiency"
},
{
"code" : "386",
"display" : "Hepatic cystic hamartoma"
},
{
"code" : "392",
"display" : "Holt-Oram syndrome"
},
{
"code" : "401",
"display" : "Hymenolepiasis"
},
{
"code" : "404",
"display" : "Familial hyperaldosteronism type II"
},
{
"code" : "405",
"display" : "Familial hypocalciuric hypercalcemia"
},
{
"code" : "416",
"display" : "Primary hyperoxaluria"
},
{
"code" : "422",
"display" : "Idiopathic/heritable pulmonary arterial hypertension"
},
{
"code" : "429",
"display" : "Hypochondroplasia"
},
{
"code" : "465",
"display" : "Congenital plasminogen activator inhibitor type 1 deficiency"
},
{
"code" : "469",
"display" : "Hereditary fructose intolerance"
},
{
"code" : "486",
"display" : "Autosomal dominant severe congenital neutropenia"
},
{
"code" : "490",
"display" : "Omphalomesenteric cyst"
},
{
"code" : "502",
"display" : "Trichorhinophalangeal syndrome type 2"
},
{
"code" : "510",
"display" : "Lesch-Nyhan syndrome"
},
{
"code" : "537",
"display" : "Toxic epidermal necrolysis"
},
{
"code" : "558",
"display" : "Marfan syndrome"
},
{
"code" : "560",
"display" : "Marshall syndrome"
},
{
"code" : "561",
"display" : "Marshall-Smith syndrome"
},
{
"code" : "572",
"display" : "Immunodeficiency by defective expression of MHC class II"
},
{
"code" : "577",
"display" : "Mucolipidosis type III"
},
{
"code" : "587",
"display" : "Muir-Torre syndrome"
},
{
"code" : "589",
"display" : "Myasthenia gravis"
},
{
"code" : "592",
"display" : "Macrophagic myofasciitis"
},
{
"code" : "600",
"display" : "Vocal cord and pharyngeal distal myopathy"
},
{
"code" : "602",
"display" : "GNE myopathy"
},
{
"code" : "609",
"display" : "Tibial muscular dystrophy"
},
{
"code" : "611",
"display" : "Inclusion body myositis"
},
{
"code" : "621",
"display" : "Hereditary methemoglobinemia"
},
{
"code" : "629",
"display" : "Short stature due to growth hormone qualitative anomaly"
},
{
"code" : "643",
"display" : "Giant axonal neuropathy"
},
{
"code" : "650",
"display" : "LCAT deficiency"
},
{
"code" : "654",
"display" : "Nephroblastoma"
},
{
"code" : "661",
"display" : "Congenital central hypoventilation syndrome"
},
{
"code" : "667",
"display" : "Autosomal recessive malignant osteopetrosis"
},
{
"code" : "701",
"display" : "Alopecia universalis"
},
{
"code" : "716",
"display" : "Phenylketonuria"
},
{
"code" : "727",
"display" : "Microscopic polyangiitis"
},
{
"code" : "735",
"display" : "Porokeratosis of Mibelli"
},
{
"code" : "741",
"display" : "Familial mitral valve prolapse"
},
{
"code" : "566393",
"display" : "Acute mast cell leukemia"
},
{
"code" : "566847",
"display" : "Aprosencephaly/atelencephaly spectrum"
},
{
"code" : "566852",
"display" : "Atelencephaly"
},
{
"code" : "567502",
"display" : "B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome"
},
{
"code" : "567552",
"display" : "Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy"
},
{
"code" : "569290",
"display" : "Multiple mitochondrial dysfunctions syndrome type 6"
},
{
"code" : "572385",
"display" : "Brachydactyly type B1"
},
{
"code" : "576278",
"display" : "SATB2-associated syndrome"
},
{
"code" : "580572",
"display" : "Intraductal tubulopapillary neoplasm of pancreas"
},
{
"code" : "580940",
"display" : "QRICH1-related intellectual disability-chondrodysplasia syndrome"
},
{
"code" : "580951",
"display" : "Punctate inner choroidopathy"
},
{
"code" : "583612",
"display" : "Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency"
},
{
"code" : "585877",
"display" : "B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality"
},
{
"code" : "585956",
"display" : "B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)"
},
{
"code" : "589522",
"display" : "Spinocerebellar ataxia type 46"
},
{
"code" : "589595",
"display" : "Mixed phenotype acute leukemia with t(v;11q23.3)"
},
{
"code" : "592894",
"display" : "Acute disseminated encephalomyelitis with anti-MOG antibodies"
},
{
"code" : "596448",
"display" : "IgG4-related systemic disease"
},
{
"code" : "596937",
"display" : "Portosinusoidal vascular disease"
},
{
"code" : "596941",
"display" : "Incomplete septal cirrhosis"
},
{
"code" : "597623",
"display" : "IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome"
},
{
"code" : "597939",
"display" : "Euthyroid dysprealbuminemic hyperthyroxinemia"
},
{
"code" : "600731",
"display" : "Clark-Baraitser syndrome"
},
{
"code" : "601013",
"display" : "Non-syndromic anorectal malformation with pouch colon"
},
{
"code" : "611216",
"display" : "Aplastic anemia-intellectual disability-dwarfism syndrome"
},
{
"code" : "611223",
"display" : "EN1-related dorsoventral syndrome"
},
{
"code" : "613267",
"display" : "Pontocerebellar hypoplasia type 13"
},
{
"code" : "615983",
"display" : "Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation"
},
{
"code" : "617301",
"display" : "Selective intrauterine growth restriction"
},
{
"code" : "619948",
"display" : "Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome"
},
{
"code" : "619972",
"display" : "CADINS disease"
},
{
"code" : "620113",
"display" : "Non-syndromic unilambdoid craniosynostosis"
},
{
"code" : "620205",
"display" : "Non-syndromic bicoronal and sagittal craniosynostosis"
},
{
"code" : "620212",
"display" : "Non-syndromic pansynostosis"
},
{
"code" : "623626",
"display" : "Paraneoplastic cerebellar degeneration"
},
{
"code" : "624178",
"display" : "Non-specific autoimmune supratentorial encephalitis without characteristic antibodies"
},
{
"code" : "624268",
"display" : "Non-specific autoimmune cerebellar ataxia without characteristic antibodies"
},
{
"code" : "631248",
"display" : "Mitchell Syndrome"
},
{
"code" : "633024",
"display" : "SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome"
},
{
"code" : "641350",
"display" : "Immunotherapy induced hypophysitis"
},
{
"code" : "641829",
"display" : "Neonatal compartment syndrome"
},
{
"code" : "645188",
"display" : "Spinal dermal sinus"
},
{
"code" : "645310",
"display" : "Fibroneural non-saccular limited dorsal myeloschisis"
},
{
"code" : "645350",
"display" : "Segmental arterial mediolysis"
},
{
"code" : "645383",
"display" : "True myelomeningocele"
},
{
"code" : "645854",
"display" : "Multifocal tuberculosis"
},
{
"code" : "647815",
"display" : "Keratoendotheliitis fugax hereditaria"
},
{
"code" : "649029",
"display" : "Isolated left bronchial isomerism"
},
{
"code" : "650097",
"display" : "Genetic central precocious puberty in male"
},
{
"code" : "778",
"display" : "Rett syndrome"
},
{
"code" : "791",
"display" : "Retinitis pigmentosa"
},
{
"code" : "819",
"display" : "Smith-Magenis syndrome"
},
{
"code" : "826",
"display" : "Sporotrichosis"
},
{
"code" : "828",
"display" : "Stickler syndrome"
},
{
"code" : "834",
"display" : "Free sialic acid storage disease"
},
{
"code" : "881",
"display" : "Turner syndrome"
},
{
"code" : "897",
"display" : "Waardenburg-Shah syndrome"
},
{
"code" : "906",
"display" : "Wiskott-Aldrich syndrome"
},
{
"code" : "950",
"display" : "Acrodysostosis"
},
{
"code" : "984",
"display" : "Pulmonary agenesis"
},
{
"code" : "994",
"display" : "Fetal akinesia deformation sequence"
},
{
"code" : "999",
"display" : "Ermine phenotype"
},
{
"code" : "1020",
"display" : "Early-onset autosomal dominant Alzheimer disease"
},
{
"code" : "1023",
"display" : "Congenital generalized hypertrichosis, Ambras type"
},
{
"code" : "1059",
"display" : "Blue rubber bleb nevus"
},
{
"code" : "1083",
"display" : "Microlissencephaly"
},
{
"code" : "1084",
"display" : "Isolated lissencephaly type 1 without known genetic defects"
},
{
"code" : "1144",
"display" : "Arthrogryposis-like hand anomaly-sensorineural deafness syndrome"
},
{
"code" : "1202",
"display" : "Larynx atresia"
},
{
"code" : "1226",
"display" : "Bamforth-Lazarus syndrome"
},
{
"code" : "1229",
"display" : "Congenital intrauterine infection-like syndrome"
},
{
"code" : "1248",
"display" : "Maxillonasal dysplasia"
},
{
"code" : "1262",
"display" : "Böök syndrome"
},
{
"code" : "1267",
"display" : "Botulism"
},
{
"code" : "1277",
"display" : "Brachydactyly-mesomelia-intellectual disability-heart defects syndrome"
},
{
"code" : "1305",
"display" : "Feingold syndrome"
},
{
"code" : "1307",
"display" : "Distal limb deficiencies-micrognathia syndrome"
},
{
"code" : "1318",
"display" : "Campomelia, Cumming type"
},
{
"code" : "1340",
"display" : "Cardiofaciocutaneous syndrome"
},
{
"code" : "1345",
"display" : "Cardiomyopathy-cataract-hip spine disease syndrome"
},
{
"code" : "1354",
"display" : "Heart defects-limb shortening syndrome"
},
{
"code" : "1383",
"display" : "Cataract-deafness-hypogonadism syndrome"
},
{
"code" : "1390",
"display" : "Night blindness-skeletal anomalies-dysmorphism syndrome"
},
{
"code" : "1394",
"display" : "Cerebrofaciothoracic dysplasia"
},
{
"code" : "1416",
"display" : "Familial calcium pyrophosphate deposition"
},
{
"code" : "1444",
"display" : "Ring chromosome 20 syndrome"
},
{
"code" : "1449",
"display" : "Ring chromosome 7 syndrome"
},
{
"code" : "1459",
"display" : "Celiac disease-epilepsy-cerebral calcification syndrome"
},
{
"code" : "1465",
"display" : "Coffin-Siris syndrome"
},
{
"code" : "1484",
"display" : "Contractures-ectodermal dysplasia-cleft lip/palate syndrome"
},
{
"code" : "1489",
"display" : "Whooping cough"
},
{
"code" : "1509",
"display" : "Coxopodopatellar syndrome"
},
{
"code" : "1519",
"display" : "SPECC1L-related hypertelorism syndrome"
},
{
"code" : "1521",
"display" : "Craniofrontonasal dysplasia-Poland anomaly syndrome"
},
{
"code" : "1546",
"display" : "Cryptococcosis"
},
{
"code" : "1547",
"display" : "Cryptomicrotia-brachydactyly-excess fingertip arch syndrome"
},
{
"code" : "1560",
"display" : "Cysticercosis"
},
{
"code" : "1574",
"display" : "Retinal degeneration-nanophthalmos-glaucoma syndrome"
},
{
"code" : "1621",
"display" : "3q13 microdeletion syndrome"
},
{
"code" : "1658",
"display" : "Absence of fingerprints-congenital milia syndrome"
},
{
"code" : "1661",
"display" : "X-linked corneal dermoid"
},
{
"code" : "1665",
"display" : "Sporadic fetal brain disruption sequence"
},
{
"code" : "1676",
"display" : "Idiopathic pulmonary artery dilatation"
},
{
"code" : "1686",
"display" : "Cardiac diverticulum"
},
{
"code" : "1702",
"display" : "Non-distal duplication 13q"
},
{
"code" : "1703",
"display" : "Mosaic trisomy 14"
},
{
"code" : "1705",
"display" : "Distal duplication 14q"
},
{
"code" : "1738",
"display" : "Trisomy 4p"
},
{
"code" : "1745",
"display" : "Distal duplication 6p"
},
{
"code" : "1752",
"display" : "Trisomy 8q"
},
{
"code" : "1762",
"display" : "Proximal Xq28 duplication syndrome"
},
{
"code" : "1778",
"display" : "Facial dysmorphism-shawl scrotum-joint laxity syndrome"
},
{
"code" : "1784",
"display" : "Acrofrontofacionasal dysostosis"
},
{
"code" : "1787",
"display" : "Acrofacial dysostosis, Palagonia type"
},
{
"code" : "1794",
"display" : "Oculomaxillofacial dysostosis"
},
{
"code" : "1803",
"display" : "Thoracomelic dysplasia"
},
{
"code" : "1806",
"display" : "Ectodermal dysplasia-blindness syndrome"
},
{
"code" : "1810",
"display" : "Autosomal dominant hypohidrotic ectodermal dysplasia"
},
{
"code" : "1832",
"display" : "Lethal osteosclerotic bone dysplasia"
},
{
"code" : "1839",
"display" : "Hereditary mucoepithelial dysplasia"
},
{
"code" : "1856",
"display" : "Spondyloperipheral dysplasia-short ulna syndrome"
},
{
"code" : "1879",
"display" : "Melorheostosis with osteopoikilosis"
},
{
"code" : "1914",
"display" : "Vitamin K antagonist embryofetopathy"
},
{
"code" : "1927",
"display" : "Emery-Nelson syndrome"
},
{
"code" : "1943",
"display" : "Early-onset progressive encephalopathy with migrant continuous myoclonus"
},
{
"code" : "2016",
"display" : "Cleft palate-lateral synechia syndrome"
},
{
"code" : "2023",
"display" : "Undifferentiated pleomorphic sarcoma"
},
{
"code" : "2038",
"display" : "Pulmonary arteriovenous malformation"
},
{
"code" : "2044",
"display" : "Floating-Harbor syndrome"
},
{
"code" : "2057",
"display" : "Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome"
},
{
"code" : "2069",
"display" : "Gastrocutaneous syndrome"
},
{
"code" : "2075",
"display" : "Genitopalatocardiac syndrome"
},
{
"code" : "2077",
"display" : "German syndrome"
},
{
"code" : "2098",
"display" : "Acromesomelic dysplasia, Grebe type"
},
{
"code" : "2102",
"display" : "GTP cyclohydrolase I deficiency"
},
{
"code" : "2116",
"display" : "Hartnup disease"
},
{
"code" : "2122",
"display" : "Kaposiform hemangioendothelioma"
},
{
"code" : "2128",
"display" : "Isolated hemihyperplasia"
},
{
"code" : "2143",
"display" : "Donnai-Barrow syndrome"
},
{
"code" : "2169",
"display" : "Methylcobalamin deficiency type cblE"
},
{
"code" : "2177",
"display" : "Hydranencephaly"
},
{
"code" : "2211",
"display" : "Hypertelorism-hypospadias-polysyndactyly syndrome"
},
{
"code" : "2215",
"display" : "Multiple pterygium-malignant hyperthermia syndrome"
},
{
"code" : "2221",
"display" : "Acquired hypertrichosis lanuginosa"
},
{
"code" : "2232",
"display" : "Primary hypergonadotropic hypogonadism-partial alopecia syndrome"
},
{
"code" : "2233",
"display" : "Hypogonadism-mitral valve prolapse-intellectual disability syndrome"
},
{
"code" : "2248",
"display" : "Hypoplastic left heart syndrome"
},
{
"code" : "2251",
"display" : "Thumb deformity-alopecia-pigmentation anomaly syndrome"
},
{
"code" : "2255",
"display" : "Pancreatic hypoplasia-diabetes-congenital heart disease syndrome"
},
{
"code" : "2257",
"display" : "Primary pulmonary hypoplasia"
},
{
"code" : "2261",
"display" : "Hypospadias-intellectual disability, Goldblatt type syndrome"
},
{
"code" : "2268",
"display" : "ICF syndrome"
},
{
"code" : "2291",
"display" : "Congenital velopharyngeal incompetence"
},
{
"code" : "2309",
"display" : "Pachyonychia congenita"
},
{
"code" : "2310",
"display" : "Absence deformity of leg-cataract syndrome"
},
{
"code" : "2311",
"display" : "Autosomal recessive spondylocostal dysostosis"
},
{
"code" : "2319",
"display" : "Juberg-Hayward syndrome"
},
{
"code" : "2329",
"display" : "Karsch-Neugebauer syndrome"
},
{
"code" : "2340",
"display" : "Keratosis follicularis spinulosa decalvans"
},
{
"code" : "2345",
"display" : "Isolated Klippel-Feil syndrome"
},
{
"code" : "2363",
"display" : "Lacrimoauriculodentodigital syndrome"
},
{
"code" : "2374",
"display" : "Congenital laryngeal web"
},
{
"code" : "2387",
"display" : "Leukonychia totalis"
},
{
"code" : "2398",
"display" : "Multiple symmetric lipomatosis"
},
{
"code" : "2404",
"display" : "Loiasis"
},
{
"code" : "2430",
"display" : "Congenital macroglossia"
},
{
"code" : "2439",
"display" : "Patterson-Stevenson-Fontaine syndrome"
},
{
"code" : "2451",
"display" : "Mucocutaneous venous malformations"
},
{
"code" : "2461",
"display" : "Marden-Walker syndrome"
},
{
"code" : "2475",
"display" : "White forelock with malformations"
},
{
"code" : "2484",
"display" : "Melnick-Needles syndrome"
},
{
"code" : "2491",
"display" : "Müllerian duct anomalies-limb anomalies syndrome"
},
{
"code" : "2495",
"display" : "Meningioma"
},
{
"code" : "2498",
"display" : "Syndactyly type 8"
},
{
"code" : "2514",
"display" : "Autosomal dominant primary microcephaly"
},
{
"code" : "2516",
"display" : "Microcephaly-cardiac defect-lung malsegmentation syndrome"
},
{
"code" : "2522",
"display" : "Microcephaly-cervical spine fusion anomalies syndrome"
},
{
"code" : "2538",
"display" : "Microgastria-limb reduction defect syndrome"
},
{
"code" : "2549",
"display" : "Oculoauriculovertebral spectrum with radial defects"
},
{
"code" : "2571",
"display" : "X-linked immunoneurologic disorder"
},
{
"code" : "2572",
"display" : "Spastic ataxia-corneal dystrophy syndrome"
},
{
"code" : "2575",
"display" : "Cystic fibrosis-gastritis-megaloblastic anemia syndrome"
},
{
"code" : "2585",
"display" : "Ataxia-pancytopenia syndrome"
},
{
"code" : "2596",
"display" : "Myopathy and diabetes mellitus"
},
{
"code" : "2597",
"display" : "Mitochondrial myopathy-lactic acidosis-deafness syndrome"
},
{
"code" : "2658",
"display" : "Lenz-Majewski hyperostotic dwarfism"
},
{
"code" : "2666",
"display" : "Adult familial nephronophthisis-spastic quadriparesia syndrome"
},
{
"code" : "2697",
"display" : "Arthrogryposis-renal dysfunction-cholestasis syndrome"
},
{
"code" : "2700",
"display" : "Noma"
},
{
"code" : "2701",
"display" : "Noonan syndrome-like disorder with loose anagen hair"
},
{
"code" : "2710",
"display" : "Oculodentodigital dysplasia"
},
{
"code" : "2713",
"display" : "Oculoosteocutaneous syndrome"
},
{
"code" : "2719",
"display" : "Oculocerebral hypopigmentation syndrome, Cross type"
},
{
"code" : "2732",
"display" : "Olivopontocerebellar atrophy-deafness syndrome"
},
{
"code" : "2736",
"display" : "Lethal omphalocele-cleft palate syndrome"
},
{
"code" : "2746",
"display" : "Opsismodysplasia"
},
{
"code" : "2759",
"display" : "Imperforate oropharynx-costovertebral anomalies syndrome"
},
{
"code" : "2771",
"display" : "Bruck syndrome"
},
{
"code" : "2786",
"display" : "Osteoporosis-oculocutaneous hypopigmentation syndrome"
},
{
"code" : "2795",
"display" : "Fowler urethral sphincter dysfunction syndrome"
},
{
"code" : "2798",
"display" : "Pachygyria-intellectual disability-epilepsy syndrome"
},
{
"code" : "2820",
"display" : "Spastic paraplegia-nephritis-deafness syndrome"
},
{
"code" : "2822",
"display" : "Autosomal recessive spastic paraplegia type 11"
},
{
"code" : "2825",
"display" : "PARC syndrome"
},
{
"code" : "2841",
"display" : "Familial benign chronic pemphigus"
},
{
"code" : "2850",
"display" : "Alopecia-intellectual disability syndrome"
},
{
"code" : "2865",
"display" : "Short stature-webbed neck-heart disease syndrome"
},
{
"code" : "2871",
"display" : "Pfeiffer-Palm-Teller syndrome"
},
{
"code" : "2880",
"display" : "Phosphoenolpyruvate carboxykinase deficiency"
},
{
"code" : "2886",
"display" : "TARP syndrome"
},
{
"code" : "2889",
"display" : "Pili torti"
},
{
"code" : "2890",
"display" : "Pili torti-onychodysplasia syndrome"
},
{
"code" : "2901",
"display" : "Neuralgic amyotrophy"
},
{
"code" : "2903",
"display" : "Familial spontaneous pneumothorax"
},
{
"code" : "2919",
"display" : "Orofaciodigital syndrome type 5"
},
{
"code" : "2930",
"display" : "Cronkhite-Canada syndrome"
},
{
"code" : "2935",
"display" : "Crossed polysyndactyly"
},
{
"code" : "2946",
"display" : "Brachydactyly-long thumb syndrome"
},
{
"code" : "2965",
"display" : "Prolactinoma"
},
{
"code" : "2978",
"display" : "Chronic intestinal pseudoobstruction"
},
{
"code" : "2988",
"display" : "Pterygium colli-intellectual disability-digital anomalies syndrome"
},
{
"code" : "2990",
"display" : "Autosomal recessive multiple pterygium syndrome"
},
{
"code" : "3004",
"display" : "Mirror polydactyly-vertebral segmentation-limbs defects syndrome"
},
{
"code" : "3005",
"display" : "Pyle disease"
},
{
"code" : "3044",
"display" : "Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome"
},
{
"code" : "3047",
"display" : "Blepharophimosis-intellectual disability syndrome, SBBYS type"
},
{
"code" : "3085",
"display" : "Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome"
},
{
"code" : "3092",
"display" : "Fixed subaortic stenosis"
},
{
"code" : "3095",
"display" : "Atypical Rett syndrome"
},
{
"code" : "3121",
"display" : "Ruvalcaba syndrome"
},
{
"code" : "3137",
"display" : "Alpha-N-acetylgalactosaminidase deficiency"
},
{
"code" : "3172",
"display" : "Eyebrow duplication-syndactyly syndrome"
},
{
"code" : "3202",
"display" : "Dehydrated hereditary stomatocytosis"
},
{
"code" : "3219",
"display" : "Fountain syndrome"
},
{
"code" : "3230",
"display" : "Deafness-oligodontia syndrome"
},
{
"code" : "3248",
"display" : "Distal symphalangism"
},
{
"code" : "3255",
"display" : "Filippi syndrome"
},
{
"code" : "3275",
"display" : "Spondylocarpotarsal synostosis"
},
{
"code" : "3282",
"display" : "Multifocal atrial tachycardia"
},
{
"code" : "3291",
"display" : "Teebi-Shaltout syndrome"
},
{
"code" : "3301",
"display" : "Tetraamelia-multiple malformations syndrome"
},
{
"code" : "3304",
"display" : "Fallot complex-intellectual disability-growth delay syndrome"
},
{
"code" : "3341",
"display" : "Torticollis-keloids-cryptorchidism-renal dysplasia syndrome"
},
{
"code" : "3344",
"display" : "Weismann-Netter syndrome"
},
{
"code" : "3348",
"display" : "Tracheobronchopathia osteochondroplastica"
},
{
"code" : "3353",
"display" : "Trichodermodysplasia-dental alterations syndrome"
},
{
"code" : "3368",
"display" : "Trigonocephaly-bifid nose-acral anomalies syndrome"
},
{
"code" : "3378",
"display" : "Trisomy 13"
},
{
"code" : "3392",
"display" : "Tularemia"
},
{
"code" : "3409",
"display" : "Urban-Rogers-Meyer syndrome"
},
{
"code" : "3411",
"display" : "Double uterus-hemivagina-renal agenesis syndrome"
},
{
"code" : "3416",
"display" : "Hyperostosis corticalis generalisata"
},
{
"code" : "3453",
"display" : "Autoimmune polyendocrinopathy type 1"
},
{
"code" : "3455",
"display" : "Wiedemann-Rautenstrauch syndrome"
},
{
"code" : "26790",
"display" : "Pseudomyxoma peritonei"
},
{
"code" : "26792",
"display" : "Short chain acyl-CoA dehydrogenase deficiency"
},
{
"code" : "31204",
"display" : "Nocardiosis"
},
{
"code" : "31825",
"display" : "Methanol poisoning"
},
{
"code" : "33067",
"display" : "Metaphyseal chondrodysplasia, Jansen type"
},
{
"code" : "33069",
"display" : "Dravet syndrome"
},
{
"code" : "33314",
"display" : "Jessner lymphocytic infiltration of the skin"
},
{
"code" : "33574",
"display" : "Glutamate-cysteine ligase deficiency"
},
{
"code" : "34514",
"display" : "Telethonin-related limb-girdle muscular dystrophy R7"
},
{
"code" : "35093",
"display" : "Non-syndromic sagittal craniosynostosis"
},
{
"code" : "35858",
"display" : "Imerslund-Gräsbeck syndrome"
},
{
"code" : "36234",
"display" : "Bacterial toxic-shock syndrome"
},
{
"code" : "36238",
"display" : "Staphylococcal necrotizing pneumonia"
},
{
"code" : "36355",
"display" : "Bleeding disorder due to P2Y12 defect"
},
{
"code" : "36397",
"display" : "Adiposis dolorosa"
},
{
"code" : "42775",
"display" : "PHACE syndrome"
},
{
"code" : "47045",
"display" : "Familial cold urticaria"
},
{
"code" : "48431",
"display" : "Congenital cataracts-facial dysmorphism-neuropathy syndrome"
},
{
"code" : "48736",
"display" : "Embryonal carcinoma of the central nervous system"
},
{
"code" : "52047",
"display" : "Braddock syndrome"
},
{
"code" : "52056",
"display" : "Ulnar/fibula ray defect-brachydactyly syndrome"
},
{
"code" : "52530",
"display" : "Pseudo-von Willebrand disease"
},
{
"code" : "52901",
"display" : "Isolated follicle stimulating hormone deficiency"
},
{
"code" : "53271",
"display" : "Muenke syndrome"
},
{
"code" : "53696",
"display" : "Arthrogryposis-anterior horn cell disease syndrome"
},
{
"code" : "54057",
"display" : "Thrombotic thrombocytopenic purpura"
},
{
"code" : "54260",
"display" : "Left ventricular noncompaction"
},
{
"code" : "54595",
"display" : "Craniopharyngioma"
},
{
"code" : "57145",
"display" : "SUNCT syndrome"
},
{
"code" : "58017",
"display" : "Classic hairy cell leukemia"
},
{
"code" : "58040",
"display" : "Osteoblastoma"
},
{
"code" : "59135",
"display" : "Laing early-onset distal myopathy"
},
{
"code" : "60033",
"display" : "Idiopathic bronchiectasis"
},
{
"code" : "64542",
"display" : "Acrofacial dysostosis, Kennedy-Teebi type"
},
{
"code" : "64692",
"display" : "Oroya fever"
},
{
"code" : "64720",
"display" : "Leiomyosarcoma"
},
{
"code" : "64743",
"display" : "Hepatoportal sclerosis"
},
{
"code" : "65250",
"display" : "Perineural cyst"
},
{
"code" : "65284",
"display" : "Biotin-thiamine-responsive basal ganglia disease"
},
{
"code" : "65682",
"display" : "Benign recurrent intrahepatic cholestasis"
},
{
"code" : "65720",
"display" : "Arthrogryposis-severe scoliosis syndrome"
},
{
"code" : "66625",
"display" : "Cerebrooculonasal syndrome"
},
{
"code" : "66631",
"display" : "CEDNIK syndrome"
},
{
"code" : "69125",
"display" : "Anonychia with flexural pigmentation"
},
{
"code" : "69745",
"display" : "Warty dyskeratoma"
},
{
"code" : "71275",
"display" : "Rh deficiency syndrome"
},
{
"code" : "71505",
"display" : "Cancer-associated retinopathy"
},
{
"code" : "71518",
"display" : "Benign paroxysmal torticollis of infancy"
},
{
"code" : "73246",
"display" : "Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome"
},
{
"code" : "75377",
"display" : "Central areolar choroidal dystrophy"
},
{
"code" : "75840",
"display" : "Congenital muscular dystrophy, Ullrich type"
},
{
"code" : "77300",
"display" : "Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome"
},
{
"code" : "79086",
"display" : "Acquired generalized lipodystrophy"
},
{
"code" : "79097",
"display" : "Folinic acid-responsive seizures"
},
{
"code" : "79099",
"display" : "Interstitial granulomatous dermatitis with arthritis"
},
{
"code" : "79102",
"display" : "Thyrotoxic periodic paralysis"
},
{
"code" : "79105",
"display" : "Myxofibrosarcoma"
},
{
"code" : "79124",
"display" : "Hepatic veno-occlusive disease-immunodeficiency syndrome"
},
{
"code" : "79157",
"display" : "2-methylbutyryl-CoA dehydrogenase deficiency"
},
{
"code" : "79242",
"display" : "Holocarboxylase synthetase deficiency"
},
{
"code" : "79243",
"display" : "Pyruvate dehydrogenase E1-alpha deficiency"
},
{
"code" : "79253",
"display" : "Mild phenylketonuria"
},
{
"code" : "79273",
"display" : "Hereditary coproporphyria"
},
{
"code" : "79279",
"display" : "Alpha-N-acetylgalactosaminidase deficiency type 1"
},
{
"code" : "79302",
"display" : "Congenital bile acid synthesis defect type 3"
},
{
"code" : "79305",
"display" : "Progressive familial intrahepatic cholestasis type 3"
},
{
"code" : "79306",
"display" : "Progressive familial intrahepatic cholestasis type 1"
},
{
"code" : "79318",
"display" : "PMM2-CDG"
},
{
"code" : "79319",
"display" : "MPI-CDG"
},
{
"code" : "79326",
"display" : "ALG2-CDG"
},
{
"code" : "79328",
"display" : "ALG9-CDG"
},
{
"code" : "79351",
"display" : "3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form"
},
{
"code" : "79395",
"display" : "Keratoderma hereditarium mutilans with ichthyosis"
},
{
"code" : "79399",
"display" : "Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form"
},
{
"code" : "79502",
"display" : "Punctate palmoplantar keratoderma type 2"
},
{
"code" : "83450",
"display" : "Regional odontodysplasia"
},
{
"code" : "83461",
"display" : "Congenital primary aphakia"
},
{
"code" : "83483",
"display" : "La Crosse encephalitis"
},
{
"code" : "83484",
"display" : "St. Louis encephalitis"
},
{
"code" : "83600",
"display" : "Encephalitis lethargica"
},
{
"code" : "83620",
"display" : "Enteric anendocrinosis"
},
{
"code" : "83628",
"display" : "LUMBAR syndrome"
},
{
"code" : "84081",
"display" : "Senior-Boichis syndrome"
},
{
"code" : "84132",
"display" : "Desmin-related myopathy with Mallory body-like inclusions"
},
{
"code" : "84142",
"display" : "Isaacs syndrome"
},
{
"code" : "85166",
"display" : "Platyspondylic dysplasia, Torrance type"
},
{
"code" : "85186",
"display" : "Endosteal sclerosis-cerebellar hypoplasia syndrome"
},
{
"code" : "85198",
"display" : "Dysspondyloenchondromatosis"
},
{
"code" : "85202",
"display" : "Keutel syndrome"
},
{
"code" : "85203",
"display" : "Acropectoral syndrome"
},
{
"code" : "85274",
"display" : "Syndromic X-linked intellectual disability 7"
},
{
"code" : "85276",
"display" : "X-linked intellectual disability, Armfield type"
},
{
"code" : "85325",
"display" : "X-linked intellectual disability, Stevenson type"
},
{
"code" : "86309",
"display" : "DPAGT1-CDG"
},
{
"code" : "86788",
"display" : "X-linked severe congenital neutropenia"
},
{
"code" : "86820",
"display" : "Familial avascular necrosis of femoral head"
},
{
"code" : "86850",
"display" : "Myeloid sarcoma"
},
{
"code" : "86871",
"display" : "T-cell prolymphocytic leukemia"
},
{
"code" : "86885",
"display" : "Primary cutaneous peripheral T-cell lymphoma not otherwise specified"
},
{
"code" : "86904",
"display" : "Methotrexate-associated lymphoproliferative disorders"
},
{
"code" : "86909",
"display" : "Myoclonic epilepsy of infancy"
},
{
"code" : "88621",
"display" : "Ichthyosis-prematurity syndrome"
},
{
"code" : "88633",
"display" : "Superior limbic keratoconjunctivitis"
},
{
"code" : "88639",
"display" : "Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency"
},
{
"code" : "88918",
"display" : "Autosomal dominant Alport syndrome"
},
{
"code" : "88924",
"display" : "Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis"
},
{
"code" : "90024",
"display" : "Deafness with labyrinthine aplasia, microtia, and microdontia"
},
{
"code" : "90059",
"display" : "Sudden sensorineural hearing loss"
},
{
"code" : "90080",
"display" : "Scarring in glaucoma filtration surgical procedures"
},
{
"code" : "90118",
"display" : "Severe early-onset axonal neuropathy due to MFN2 deficiency"
},
{
"code" : "90321",
"display" : "Cockayne syndrome type 1"
},
{
"code" : "90324",
"display" : "Cockayne syndrome type 3"
},
{
"code" : "90354",
"display" : "Brittle cornea syndrome"
},
{
"code" : "90398",
"display" : "Localized lichen myxedematosus with mixed features of different subtypes"
},
{
"code" : "90636",
"display" : "Rare autosomal recessive non-syndromic sensorineural deafness type DFNB"
},
{
"code" : "90653",
"display" : "Stickler syndrome type 1"
},
{
"code" : "90695",
"display" : "Non-acquired panhypopituitarism"
},
{
"code" : "90797",
"display" : "Partial androgen insensitivity syndrome"
},
{
"code" : "91127",
"display" : "Adenovirus infection in immunocompromised patients"
},
{
"code" : "91132",
"display" : "Ichthyosis-hypotrichosis syndrome"
},
{
"code" : "91139",
"display" : "Simple cryoglobulinemia"
},
{
"code" : "91347",
"display" : "TSH-secreting pituitary adenoma"
},
{
"code" : "93297",
"display" : "Hypochondrogenesis"
},
{
"code" : "93316",
"display" : "Spondylometaphyseal dysplasia, Schmidt type"
},
{
"code" : "93317",
"display" : "Spondylometaphyseal dysplasia, Sedaghatian type"
},
{
"code" : "93323",
"display" : "Fibular hemimelia"
},
{
"code" : "93333",
"display" : "Pelviscapular dysplasia"
},
{
"code" : "93337",
"display" : "Polydactyly of an index finger"
},
{
"code" : "93383",
"display" : "Brachydactyly type B"
},
{
"code" : "93398",
"display" : "Genochondromatosis type 2"
},
{
"code" : "93474",
"display" : "Scheie syndrome"
},
{
"code" : "93560",
"display" : "AApoAI amyloidosis"
},
{
"code" : "93561",
"display" : "ALys amyloidosis"
},
{
"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" : "93612",
"display" : "Cystinuria type A"
},
{
"code" : "93921",
"display" : "Full schwannomatosis"
},
{
"code" : "93926",
"display" : "Midline interhemispheric variant of holoprosencephaly"
},
{
"code" : "93940",
"display" : "Laryngotracheoesophageal cleft type 3"
},
{
"code" : "94066",
"display" : "Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia"
},
{
"code" : "94090",
"display" : "Pseudohypoparathyroidism type 2"
},
{
"code" : "94150",
"display" : "Anonychia congenita totalis"
},
{
"code" : "95232",
"display" : "Lissencephaly due to LIS1 mutation"
},
{
"code" : "95429",
"display" : "Angioma serpiginosum"
},
{
"code" : "95474",
"display" : "Double-orifice mitral valve"
},
{
"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" : "96059",
"display" : "Mosaic trisomy 4"
},
{
"code" : "96095",
"display" : "3q26 microduplication syndrome"
},
{
"code" : "96173",
"display" : "Ring chromosome 9 syndrome"
},
{
"code" : "96180",
"display" : "Maternal uniparental disomy of chromosome 4"
},
{
"code" : "96181",
"display" : "Maternal uniparental disomy of chromosome 6"
},
{
"code" : "96187",
"display" : "Maternal uniparental disomy of chromosome 21"
},
{
"code" : "96190",
"display" : "Paternal uniparental disomy of chromosome 5"
},
{
"code" : "96201",
"display" : "X small rings"
},
{
"code" : "96253",
"display" : "Cushing disease"
},
{
"code" : "97240",
"display" : "Zebra body myopathy"
},
{
"code" : "97261",
"display" : "GRFoma"
},
{
"code" : "97278",
"display" : "PPoma"
},
{
"code" : "97280",
"display" : "Glucagonoma"
},
{
"code" : "97283",
"display" : "Somatostatinoma"
},
{
"code" : "97290",
"display" : "Familial papillary thyroid carcinoma with renal papillary neoplasia"
},
{
"code" : "97338",
"display" : "Melanoma of soft tissue"
},
{
"code" : "97352",
"display" : "Pellagra"
},
{
"code" : "97360",
"display" : "Robinow syndrome"
},
{
"code" : "97564",
"display" : "Pauci-immune glomerulonephritis without ANCA"
},
{
"code" : "98673",
"display" : "Autosomal dominant optic atrophy, classic form"
},
{
"code" : "98754",
"display" : "Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15"
},
{
"code" : "98757",
"display" : "Spinocerebellar ataxia type 3"
},
{
"code" : "98761",
"display" : "Spinocerebellar ataxia type 10"
},
{
"code" : "98816",
"display" : "Benign childhood occipital epilepsy, Gastaut type"
},
{
"code" : "98833",
"display" : "Acute myeloblastic leukemia without maturation"
},
{
"code" : "98834",
"display" : "Acute myeloblastic leukemia with maturation"
},
{
"code" : "98835",
"display" : "Acute undifferentiated leukemia"
},
{
"code" : "98855",
"display" : "Autosomal recessive Emery-Dreifuss muscular dystrophy"
},
{
"code" : "98856",
"display" : "Charcot-Marie-Tooth disease type 2B1"
},
{
"code" : "98870",
"display" : "Congenital dyserythropoietic anemia type III"
},
{
"code" : "98879",
"display" : "Hemophilia B"
},
{
"code" : "98886",
"display" : "Bleeding diathesis due to integrin alpha2-beta1 deficiency"
},
{
"code" : "98889",
"display" : "Bilateral perisylvian polymicrogyria"
},
{
"code" : "98918",
"display" : "Acute motor axonal neuropathy"
},
{
"code" : "98956",
"display" : "Epithelial basement membrane dystrophy"
},
{
"code" : "98971",
"display" : "Posterior amorphous corneal dystrophy"
},
{
"code" : "98977",
"display" : "Juvenile glaucoma"
},
{
"code" : "98984",
"display" : "Pulver "870",
"display" : "Down syndrome"
},
{
"code" : "886",
"display" : "Usher syndrome"
},
{
"code" : "890",
"display" : "Hepatic veno-occlusive disease"
},
{
"code" : "893",
"display" : "WAGR syndrome"
},
{
"code" : "898",
"display" : "Wagner disease"
},
{
"code" : "911",
"display" : "Combined immunodeficiency due to ZAP70 deficiency"
&nb {
"code" : "199241",
"display" : "Pulmonary capillary hemangiomatosis"
},
{
"code" : "199329",
"display" : "Congenital myopathy, Paradas type"
},
{
"code" : "208447",
"display" : "Bilateral generalized polymicrogyria"
},
{
"code" : "208513",
"display" : "Spinocerebellar ataxia type 29"
},
{
"code" : "208524",
"display" : "Herpetiform pemphigus"
},
{
"code" : "209902",
"display" : "Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency"
},
{
"code" : "209967",
"display" : "Episodic ataxia type 6"
},
{
"code" : "209989",
"display" : "Non-papillary transitional cell carcinoma of the bladder"
},
{
"code" : "210141",
"display" : "Inherited congenital spastic tetraplegia"
},
{
"code" : "210144",
"display" : "Lethal polymalformative syndrome, Boissel type"
},
{
"code" : "213711",
"display" : "Endometrial stromal sarcoma"
},
{
"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" : "216820",
"display" : "Osteogenesis imperfecta type 4"
},
{
"code" : "216866",
"display" : "Classic pantothenate kinase-associated neurodegeneration"
},
{
"code" : "217064",
"display" : "5-fluorouracil poisoning"
},
{
"code" : "217093",
"display" : "Mucopolysaccharidosis type 2, attenuated form"
},
{
"code" : "217382",
"display" : "Neurodegenerative syndrome due to cerebral folate transport deficiency"
},
{
"code" : "217396",
"display" : "Progressive polyneuropathy with bilateral striatal necrosis"
},
{
"code" : "217566",
"display" : "Chronic respiratory distress with surfactant metabolism deficiency"
},
{
"code" : "220393",
"display" : "Diffuse cutaneous systemic sclerosis"
},
{
"code" : "220443",
"display" : "Bleeding diathesis due to thromboxane synthesis deficiency"
},
{
"code" : "221142",
"display" : "Confetti-like macular atrophy"
},
{
"code" : "228119",
"display" : "Fusariosis"
},
{
"code" : "228123",
"display" : "Coccidioidomycosis"
},
{
"code" : "228140",
"display" : "Idiopathic ventricular fibrillation, non Brugada type"
},
{
"code" : "228371",
"display" : "Foodborne botulism"
},
{
"code" : "228390",
"display" : "Frontonasal dysplasia-alopecia-genital anomalies syndrome"
},
{
"code" : "231080",
"display" : "High-grade dysplasia in patients with Barrett esophagus"
},
{
"code" : "231108",
"display" : "Rhabdoid tumor predisposition syndrome"
},
{
"code" : "231512",
"display" : "Hermansky-Pudlak syndrome due to BLOC-2 deficiency"
},
{
"code" : "238468",
"display" : "Hypohidrotic ectodermal dysplasia"
},
{
"code" : "238613",
"display" : "Beckwith-Wiedemann syndrome due to NSD1 mutation"
},
{
"code" : "238688",
"display" : "Neonatal iodine exposure"
},
{
"code" : "240085",
"display" : "Progressive supranuclear palsy-parkinsonism syndrome"
},
{
"code" : "243367",
"display" : "Acute fatty liver of pregnancy"
},
{
"code" : "247198",
"display" : "Progressive cerebello-cerebral atrophy"
},
{
"code" : "247262",
"display" : "Hyperphosphatasia-intellectual disability syndrome"
},
{
"code" : "247598",
"display" : "Neonatal intrahepatic cholestasis due to citrin deficiency"
},
{
"code" : "247667",
"display" : "Childhood-onset hypophosphatasia"
},
{
"code" : "247691",
"display" : "Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations"
},
{
"code" : "247724",
"display" : "Idiopathic eosinophilic myositis"
},
{
"code" : "247762",
"display" : "Lipoblastoma"
},
{
"code" : "247815",
"display" : "Autosomal recessive ataxia due to PEX10 deficiency"
},
{
"code" : "247820",
"display" : "Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome"
},
{
"code" : "250999",
"display" : "1q41q42 microdeletion syndrome"
},
{
"code" : "251009",
"display" : "Maternal uniparental disomy of chromosome 1"
},
{
"code" : "251019",
"display" : "2q32q33 microdeletion syndrome"
},
{
"code" : "251262",
"display" : "Familial osteochondritis dissecans"
},
{
"code" : "251295",
"display" : "Pigmented paravenous retinochoroidal atrophy"
},
{
"code" : "251582",
"display" : "Gliomatosis cerebri"
},
{
"code" : "251604",
"display" : "Gemistocytic astrocytoma"
},
{
"code" : "251607",
"display" : "Pleomorphic xanthoastrocytoma"
},
{
"code" : "251615",
"display" : "Pilomyxoid astrocytoma"
},
{
"code" : "251636",
"display" : "Ependymoma"
},
{
"code" : "251639",
"display" : "Subependymoma"
},
{
"code" : "251902",
"display" : "Atypical papilloma of choroid plexus"
},
{
"code" : "251927",
"display" : "Extraventricular neurocytoma"
},
{
"code" : "251940",
"display" : "Desmoplastic infantile astrocytoma/ganglioglioma"
},
{
"code" : "251975",
"display" : "Rosette-forming glioneuronal tumor"
},
{
"code" : "252164",
"display" : "Benign schwannoma"
},
{
"code" : "252202",
"display" : "Constitutional mismatch repair deficiency syndrome"
},
{
"code" : "254343",
"display" : "Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome"
},
{
"code" : "254424",
"display" : "Annular lichen planus"
},
{
"code" : "254698",
"display" : "Epithelioid trophoblastic tumor"
},
{
"code" : "254905",
"display" : "Isolated cytochrome C oxidase deficiency"
},
{
"code" : "261102",
"display" : "Distal 7q11.23 microduplication syndrome"
},
{
"code" : "261144",
"display" : "FOXG1 syndrome due to 14q12 microdeletion"
},
{
"code" : "261211",
"display" : "16p11.2p12.2 microdeletion syndrome"
},
{
"code" : "261323",
"display" : "21q22.11q22.12 microdeletion syndrome"
},
{
"code" : "261337",
"display" : "Distal 22q11.2 microduplication syndrome"
},
{
"code" : "261349",
"display" : "2p15p16.1 microdeletion syndrome"
},
{
"code" : "261476",
"display" : "Xp21 deletion syndrome"
},
{
"code" : "261529",
"display" : "Ring chromosome Y syndrome"
},
{
"code" : "261534",
"display" : "49,XXXYY syndrome"
},
{
"code" : "261629",
"display" : "Alagille syndrome due to a NOTCH2 point mutation"
},
{
"code" : "261638",
"display" : "Okihiro syndrome due to 20q13 microdeletion"
},
{
"code" : "263324",
"display" : "Thymoma type AB"
},
{
"code" : "263331",
"display" : "Well-differentiated thymic neuroendocrine carcinoma"
},
{
"code" : "263458",
"display" : "Hyperinsulinism due to INSR deficiency"
},
{
"code" : "263463",
"display" : "CHST3-related skeletal dysplasia"
},
{
"code" : "263516",
"display" : "Progressive myoclonic epilepsy type 3"
},
{
"code" : "263665",
"display" : "NK-cell enteropathy"
},
{
"code" : "264580",
"display" : "Glycogen storage disease due to liver phosphorylase kinase deficiency"
},
{
"code" : "264675",
"display" : "Hereditary pulmonary alveolar proteinosis"
},
{
"code" : "268184",
"display" : "Thiamine-responsive maple syrup urine disease"
},
{
"code" : "268829",
"display" : "Basal encephalocele"
},
{
"code" : "268947",
"display" : "Unilateral focal polymicrogyria"
},
{
"code" : "268961",
"display" : "Isolated focal cortical dysplasia type I"
},
{
"code" : "269008",
"display" : "Isolated focal cortical dysplasia type IIb"
},
{
"code" : "269229",
"display" : "Pontine tegmental cap dysplasia"
},
{
"code" : "275523",
"display" : "Dianzani autoimmune lymphoproliferative disease"
},
{
"code" : "276174",
"display" : "Idiopathic recurrent stupor"
},
{
"code" : "276193",
"display" : "Spinocerebellar ataxia type 35"
},
{
"code" : "276223",
"display" : "Mucopolysaccharidosis type 6, slowly progressing"
},
{
"code" : "276244",
"display" : "Machado-Joseph disease type 3"
},
{
"code" : "276280",
"display" : "Hemihyperplasia-multiple lipomatosis syndrome"
},
{
"code" : "276598",
"display" : "Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency"
},
{
"code" : "276630",
"display" : "Symptomatic form of Coffin-Lowry syndrome in female carriers"
},
{
"code" : "279925",
"display" : "Infectious panuveitis"
},
{
"code" : "280183",
"display" : "Methylmalonic aciduria due to transcobalamin receptor defect"
},
{
"code" : "280234",
"display" : "Null syndrome"
},
{
"code" : "280288",
"display" : "Pelizaeus-Merzbacher-like disease due to HSPD1 mutation"
},
{
"code" : "280403",
"display" : "Familial omphalocele syndrome with facial dysmorphism"
},
{
"code" : "280553",
"display" : "Fatal infantile hypertonic myofibrillar myopathy"
},
{
"code" : "280576",
"display" : "Nestor-Guillermo progeria syndrome"
},
{
"code" : "280620",
"display" : "Progressive myoclonic epilepsy type 6"
},
{
"code" : "280679",
"display" : "Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome"
},
{
"code" : "280774",
"display" : "Generalized essential telangiectasia"
},
{
"code" : "280811",
"display" : "Extralobar congenital pulmonary sequestration"
},
{
"code" : "280917",
"display" : "Idiopathic posterior uveitis"
},
{
"code" : "281190",
"display" : "Congenital reticular ichthyosiform erythroderma"
},
{
"code" : "284180",
"display" : "Xp22.13p22.2 duplication syndrome"
},
{
"code" : "284339",
"display" : "Pontocerebellar hypoplasia type 7"
},
{
"code" : "284388",
"display" : "Reversible cerebral vasoconstriction syndrome"
},
{
"code" : "289916",
"display" : "Vitamin B12-unresponsive methylmalonic acidemia type mut0"
},
{
"code" : "293150",
"display" : "Familial clubfoot due to PITX1 point mutation"
},
{
"code" : "293462",
"display" : "Pre-Descemet corneal dystrophy"
},
{
"code" : "293843",
"display" : "3MC syndrome"
},
{
"code" : "293864",
"display" : "Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome"
},
{
"code" : "293958",
"display" : "Hypertelorism-preauricular sinus-punctual pits-deafness syndrome"
},
{
"code" : "294026",
"display" : "Syndactyly-nystagmus syndrome due to 2q31.1 microduplication"
},
{
"code" : "294422",
"display" : "Chronic intestinal failure"
},
{
"code" : "294971",
"display" : "Tetra-amelia"
},
{
"code" : "294983",
"display" : "Acheiria"
},
{
"code" : "295020",
"display" : "Congenital pseudoarthrosis of the femur"
},
{
"code" : "295032",
"display" : "Isolated congenital radial head dislocation"
},
{
"code" : "295187",
"display" : "Zygodactyly type 1"
},
{
"code" : "295191",
"display" : "Zygodactyly type 3"
},
{
"code" : "295245",
"display" : "Macrodactyly of toes, bilateral"
},
{
"code" : "300293",
"display" : "Transient infantile hypertriglyceridemia and hepatosteatosis"
},
{
"code" : "300319",
"display" : "Charcot-Marie-Tooth disease type 2P"
},
{
"code" : "300564",
"display" : "Combined pulmonary fibrosis-emphysema syndrome"
},
{
"code" : "306530",
"display" : "Congenital hereditary facial paralysis-variable hearing loss syndrome"
},
{
"code" : "306682",
"display" : "Manganese poisoning"
},
{
"code" : "306734",
"display" : "Primary dystonia, DYT21 type"
},
{
"code" : "308410",
"display" : "Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency"
},
{
"code" : "309108",
"display" : "Pancreatic colipase deficiency"
},
{
"code" : "309155",
"display" : "Sandhoff disease, infantile form"
},
{
"code" : "309178",
"display" : "Tay-Sachs disease, B variant, infantile form"
},
{
"code" : "309331",
"display" : "Intermediate severe Salla disease"
},
{
"code" : "309854",
"display" : "Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome"
},
{
"code" : "313772",
"display" : "Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome"
},
{
"code" : "313846",
"display" : "Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome"
},
{
"code" : "314017",
"display" : "Idiopathic linear interstitial keratitis"
},
{
"code" : "314689",
"display" : "Combined immunodeficiency due to STK4 deficiency"
},
{
"code" : "314777",
"display" : "Familial isolated pituitary adenoma"
},
{
"code" : "314970",
"display" : "Lymphocytic hypereosinophilic syndrome"
},
{
"code" : "317430",
"display" : "Combined immunodeficiency due to STIM1 deficiency"
},
{
"code" : "317476",
"display" : "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia"
},
{
"code" : "319229",
"display" : "Bolivian hemorrhagic fever"
},
{
"code" : "319552",
"display" : "Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency"
},
{
"code" : "319678",
"display" : "Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome"
&