FHIR IG analytics| Package | us.nlm.vsac |
| Resource Type | ValueSet |
| Id | ValueSet-2.16.840.1.113762.1.4.1146.2643.json |
| FHIR Version | R4 |
| Source | https://vsac.nlm.nih.gov/valueset/2.16.840.1.113762.1.4.1146.2643/expansion |
| URL | http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1146.2643 |
| Version | 20250621 |
| Status | active |
| Date | 2025-06-21T01:03:03-04:00 |
| Name | CongenitalAnomaliesOfTheEyeSNOMED |
| Title | Congenital Anomalies of the Eye (SNOMED) |
| Realm | us |
| Authority | hl7 |
| Purpose | (Clinical Focus: This set of values contains diagnoses or problems that represent that the patient has Congenital Anomalies of the Eye regardless of the clinical presentation of the condition.),(Data Element Scope: Diagnoses or problems documented in a clinical record.),(Inclusion Criteria: Congenital Anomalies of the Eye),(Exclusion Criteria: None) |
No resources found
| CodeSystem | |
| sct | SNOMED codes used in this IG |
No narrative content found in resource
FHIR
FHIRsmith{
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"id": "2.16.840.1.113762.1.4.1146.2643",
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"identifier": [
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"version": "20250621",
"name": "CongenitalAnomaliesOfTheEyeSNOMED",
"title": "Congenital Anomalies of the Eye (SNOMED)",
"status": "active",
"date": "2025-06-21T01:03:03-04:00",
"publisher": "CSTE Steward",
"jurisdiction": [
{
"coding": [
{
"system": "urn:iso:std:iso:3166",
"code": "US"
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"purpose": "(Clinical Focus: This set of values contains diagnoses or problems that represent that the patient has Congenital Anomalies of the Eye regardless of the clinical presentation of the condition.),(Data Element Scope: Diagnoses or problems documented in a clinical record.),(Inclusion Criteria: Congenital Anomalies of the Eye),(Exclusion Criteria: None)",
"compose": {
"include": [
{
"system": "http://snomed.info/sct",
"concept": [
{
"code": "1003369001",
"display": "Microphthalmos due to Delleman syndrome (disorder)"
},
{
"code": "1003370000",
"display": "Microphthalmos due to Fryns syndrome (disorder)"
},
{
"code": "1003372008",
"display": "Microphthalmos due to branchio-oculo-facial syndrome (disorder)"
},
{
"code": "1003408005",
"display": "Congenital dystrophy of cornea (disorder)"
},
{
"code": "1003424006",
"display": "Hutterite type cataract (disorder)"
},
{
"code": "1003884001",
"display": "Pulverulent cataract (disorder)"
},
{
"code": "1003921006",
"display": "Sclerocornea of bilateral corneas (disorder)"
},
{
"code": "1010606009",
"display": "Waardenburg syndrome type 1 (disorder)"
},
{
"code": "1010636000",
"display": "Waardenburg syndrome type 2 (disorder)"
},
{
"code": "1010664005",
"display": "Stickler syndrome type 2 (disorder)"
},
{
"code": "1010666007",
"display": "Stickler syndrome type 4 (disorder)"
},
{
"code": "1010668008",
"display": "Stickler syndrome type 1 (disorder)"
},
{
"code": "10170007",
"display": "Black locks, oculocutaneous albinism, AND deafness of the sensorineural type (disorder)"
},
{
"code": "11160000",
"display": "Brown oculocutaneous albinism (disorder)"
},
{
"code": "11211000119108",
"display": "Congenital anomaly of pupil (disorder)"
},
{
"code": "1172594000",
"display": "Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome (disorder)"
},
{
"code": "1172629005",
"display": "Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome (disorder)"
},
{
"code": "1172636006",
"display": "Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder)"
},
{
"code": "1172683008",
"display": "Microcephaly, congenital cataract, psoriasiform dermatitis syndrome (disorder)"
},
{
"code": "1179296003",
"display": "Colobomatous macrophthalmia with microcornea syndrome (disorder)"
},
{
"code": "1197357008",
"display": "Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome (disorder)"
},
{
"code": "1197358003",
"display": "Autosomal recessive dysgenesis of anterior segment of eye (disorder)"
},
{
"code": "1197365006",
"display": "Familial cavitary optic disc anomaly (disorder)"
},
{
"code": "1208342001",
"display": "Eye defects, arachnodactyly, cardiopathy syndrome (disorder)"
},
{
"code": "1208480004",
"display": "Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder)"
},
{
"code": "1208840000",
"display": "Incomplete achromatopsia (disorder)"
},
{
"code": "1217628008",
"display": "Congenital absence of eye with orbital implant (disorder)"
},
{
"code": "1217664009",
"display": "Congenital colobomatous cyst of orbit (disorder)"
},
{
"code": "1217688006",
"display": "Congenital corneal leukoma (disorder)"
},
{
"code": "1230014007",
"display": "Duane retraction syndrome with congenital deafness (disorder)"
},
{
"code": "1230020008",
"display": "Congenital peripapillary staphyloma (disorder)"
},
{
"code": "1230066003",
"display": "Isolated microspherophakia (disorder)"
},
{
"code": "1230344000",
"display": "Microphthalmia, microtia, fetal akinesia syndrome (disorder)"
},
{
"code": "1231626009",
"display": "Syndromic nanophthalmos due to Kenny-Caffey syndrome (disorder)"
},
{
"code": "1237337007",
"display": "Extensive peripapillary myelinated nerve fibers of retina (disorder)"
},
{
"code": "1237370002",
"display": "Myelinated nerve fiber layer of retina (disorder)"
},
{
"code": "1254751008",
"display": "Congenital prepapillary vascular loop (disorder)"
},
{
"code": "1255268002",
"display": "Oculocerebrodental syndrome (disorder)"
},
{
"code": "1260140008",
"display": "Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome (disorder)"
},
{
"code": "1279837000",
"display": "Congenital cataract microcornea with corneal opacity (disorder)"
},
{
"code": "1279889005",
"display": "Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder)"
},
{
"code": "128082002",
"display": "Duane's syndrome, type 1 (disorder)"
},
{
"code": "128083007",
"display": "Duane's syndrome, type 2 (disorder)"
},
{
"code": "128084001",
"display": "Duane's syndrome, type 3 (disorder)"
},
{
"code": "128352002",
"display": "Congenital structural abnormality of cornea (disorder)"
},
{
"code": "128353007",
"display": "Congenital anomaly of lens (disorder)"
},
{
"code": "1285322008",
"display": "Triopia (disorder)"
},
{
"code": "128533009",
"display": "Micropapilla (disorder)"
},
{
"code": "128534003",
"display": "Congenital anomaly of posterior segment of eye (disorder)"
},
{
"code": "128985003",
"display": "Congenital anomaly of iris (disorder)"
},
{
"code": "1295485009",
"display": "Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome (disorder)"
},
{
"code": "1295488006",
"display": "Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome (disorder)"
},
{
"code": "1300116006",
"display": "Oculocutaneous albinism type 8 (disorder)"
},
{
"code": "13015741000119105",
"display": "Congenital ocular melanocytosis of left eye (disorder)"
},
{
"code": "13015781000119100",
"display": "Congenital ocular melanocytosis of right eye (disorder)"
},
{
"code": "13015821000119105",
"display": "Congenital ocular melanocytosis of bilateral eyes (disorder)"
},
{
"code": "1303582008",
"display": "Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome (disorder)"
},
{
"code": "1306783005",
"display": "Congenital malformation of angle of anterior chamber of right eye (disorder)"
},
{
"code": "1306784004",
"display": "Congenital malformation of angle of anterior chamber of left eye (disorder)"
},
{
"code": "1306785003",
"display": "Congenital malformation of angle of anterior chamber of bilateral eyes (disorder)"
},
{
"code": "13282008",
"display": "Congenital corneal opacity interfering with vision (disorder)"
},
{
"code": "1332382002",
"display": "Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)"
},
{
"code": "14552009",
"display": "Vestigial remnants of canal of Cloquet (disorder)"
},
{
"code": "15552004",
"display": "Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts (disorder)"
},
{
"code": "15665201000119103",
"display": "Congenital vitreous opacity of right eye (disorder)"
},
{
"code": "15665241000119101",
"display": "Congenital vitreous opacity of left eye (disorder)"
},
{
"code": "15665281000119106",
"display": "Congenital vitreous opacity of bilateral eyes (disorder)"
},
{
"code": "15665321000119101",
"display": "Congenital chorioretinal coloboma of right eye (disorder)"
},
{
"code": "15665361000119106",
"display": "Congenital chorioretinal coloboma of left eye (disorder)"
},
{
"code": "15665401000119102",
"display": "Congenital chorioretinal coloboma of bilateral eyes (disorder)"
},
{
"code": "15665641000119103",
"display": "Anophthalmos of bilateral eyes (disorder)"
},
{
"code": "15665721000119102",
"display": "Congenital coloboma of bilateral irides (disorder)"
},
{
"code": "15665801000119104",
"display": "Congenital capsular cataract of bilateral eyes (disorder)"
},
{
"code": "15665841000119102",
"display": "Congenital capsular cataract of right eye (disorder)"
},
{
"code": "15665881000119107",
"display": "Congenital capsular cataract of left eye (disorder)"
},
{
"code": "15863931000119108",
"display": "Duane's syndrome of bilateral eyes (disorder)"
},
{
"code": "15986071000119108",
"display": "Congenital anomaly of right pupil (disorder)"
},
{
"code": "15986111000119101",
"display": "Congenital coloboma of bilateral optic discs (disorder)"
},
{
"code": "15986151000119100",
"display": "Congenital coloboma of right optic disc (disorder)"
},
{
"code": "15986191000119105",
"display": "Congenital coloboma of left optic disc (disorder)"
},
{
"code": "15986231000119101",
"display": "Congenital anomaly of right optic disc (disorder)"
},
{
"code": "15986271000119103",
"display": "Congenital anomaly of bilateral optic discs (disorder)"
},
{
"code": "15986311000119103",
"display": "Congenital anomaly of left optic disc (disorder)"
},
{
"code": "15986351000119102",
"display": "Congenital chorioretinal degeneration of bilateral eyes (disorder)"
},
{
"code": "15986391000119107",
"display": "Congenital chorioretinal degeneration of right eye (disorder)"
},
{
"code": "15986431000119102",
"display": "Congenital chorioretinal degeneration of left eye (disorder)"
},
{
"code": "15986471000119104",
"display": "Congenital anomaly of retina of right eye (disorder)"
},
{
"code": "15986511000119108",
"display": "Congenital hypertrophy of retinal pigment epithelium of right eye (disorder)"
},
{
"code": "15986551000119109",
"display": "Congenital hypertrophy of retinal pigment epithelium of bilateral eyes (disorder)"
},
{
"code": "15986591000119104",
"display": "Congenital hypertrophy of retinal pigment epithelium of left eye (disorder)"
},
{
"code": "15986751000119101",
"display": "Congenital anomaly of retina of left eye (disorder)"
},
{
"code": "15986791000119106",
"display": "Congenital anomaly of bilateral retinas (disorder)"
},
{
"code": "15986951000119103",
"display": "Congenital aniridia of right eye (disorder)"
},
{
"code": "15986991000119108",
"display": "Congenital aniridia of left eye (disorder)"
},
{
"code": "15987031000119108",
"display": "Congenital aniridia of bilateral eyes (disorder)"
},
{
"code": "15987071000119106",
"display": "Congenital anomaly of left pupil (disorder)"
},
{
"code": "15987111000119104",
"display": "Congenital anomaly of bilateral pupils (disorder)"
},
{
"code": "15987151000119103",
"display": "Microphthalmos of bilateral eyes (disorder)"
},
{
"code": "15987191000119108",
"display": "Microphthalmos of right eye (disorder)"
},
{
"code": "15987231000119104",
"display": "Microphthalmos of left eye (disorder)"
},
{
"code": "15987391000119105",
"display": "Congenital opacity of cornea of left eye (disorder)"
},
{
"code": "15987431000119100",
"display": "Congenital opacity of cornea of right eye (disorder)"
},
{
"code": "15987511000119106",
"display": "Congenital structural abnormality of left cornea (disorder)"
},
{
"code": "15987551000119107",
"display": "Congenital structural abnormality of bilateral corneas (disorder)"
},
{
"code": "15987591000119102",
"display": "Congenital structural abnormality of right cornea (disorder)"
},
{
"code": "15987871000119100",
"display": "Congenital coloboma of right lens (disorder)"
},
{
"code": "15987911000119102",
"display": "Congenital coloboma of left lens (disorder)"
},
{
"code": "15988111000119100",
"display": "Congenital anomaly of bilateral sclerae (disorder)"
},
{
"code": "15988151000119104",
"display": "Congenital anomaly of left sclera (disorder)"
},
{
"code": "15988191000119109",
"display": "Congenital anomaly of right sclera (disorder)"
},
{
"code": "17480001",
"display": "Atresia of pupil (disorder)"
},
{
"code": "17827007",
"display": "Cross syndrome (disorder)"
},
{
"code": "184437571000119104",
"display": "Congenital structural abnormality of ciliary body (disorder)"
},
{
"code": "18821006",
"display": "Dysplasia of eye (disorder)"
},
{
"code": "193687000",
"display": "Oguchi's disease (disorder)"
},
{
"code": "19416009",
"display": "Congenital anomaly of eye (disorder)"
},
{
"code": "204102004",
"display": "Cryptophthalmos syndrome (disorder)"
},
{
"code": "204108000",
"display": "Simple microphthalmos (disorder)"
},
{
"code": "204118005",
"display": "Congenital keratoglobus (disorder)"
},
{
"code": "204127006",
"display": "Cortical and zonular cataract (disorder)"
},
{
"code": "204128001",
"display": "Congenital lamellar cataract (disorder)"
},
{
"code": "204134008",
"display": "Coloboma of lens (disorder)"
},
{
"code": "204138006",
"display": "Congenital blue dot cataract (disorder)"
},
{
"code": "204139003",
"display": "Congenital membranous cataract (disorder)"
},
{
"code": "204143004",
"display": "Corneal size and shape anomalies (disorder)"
},
{
"code": "204145006",
"display": "Cornea plana (disorder)"
},
{
"code": "204148008",
"display": "Congenital corneal opacity with visual deficit (disorder)"
},
{
"code": "204149000",
"display": "Congenital corneal opacity without visual deficit (disorder)"
},
{
"code": "204152008",
"display": "Axenfeld anomaly (disorder)"
},
{
"code": "204153003",
"display": "Irido-corneo-trabecular dysgenesis (disorder)"
},
{
"code": "204154009",
"display": "Irido-trabecular dysgenesis (disorder)"
},
{
"code": "204159004",
"display": "Polycoria (disorder)"
},
{
"code": "204164000",
"display": "Blue sclera (disorder)"
},
{
"code": "204166003",
"display": "Multiple anterior segment anomalies (disorder)"
},
{
"code": "204171005",
"display": "Congenital vitreous opacity (disorder)"
},
{
"code": "204173008",
"display": "Coloboma of retina (disorder)"
},
{
"code": "204175001",
"display": "Congenital fold and cyst of posterior segment of eye (disorder)"
},
{
"code": "204181009",
"display": "Congenital retinal fold (disorder)"
},
{
"code": "204189006",
"display": "Congenital stricture of retinal artery (disorder)"
},
{
"code": "204192005",
"display": "Coloboma of choroid (disorder)"
},
{
"code": "21590003",
"display": "Congenital zonular cataract (disorder)"
},
{
"code": "230504002",
"display": "Tilted optic disc (disorder)"
},
{
"code": "230506000",
"display": "Myelinated nerve fibers of optic disc (disorder)"
},
{
"code": "231933003",
"display": "Lattice corneal dystrophy, isolated form (disorder)"
},
{
"code": "232061009",
"display": "Congenital stationary night blindness (disorder)"
},
{
"code": "232074003",
"display": "Congenital hypertrophy of retinal pigment epithelium (disorder)"
},
{
"code": "237919007",
"display": "Minimal pigment oculocutaneous albinism (disorder)"
},
{
"code": "237920001",
"display": "Temperature-sensitive oculocutaneous albinism (disorder)"
},
{
"code": "24210004",
"display": "Congenital chorioretinal degeneration (disorder)"
},
{
"code": "247127002",
"display": "Retinal arteriovenous shunt (disorder)"
},
{
"code": "247204001",
"display": "Morning glory disc (disorder)"
},
{
"code": "251729009",
"display": "Congenital malformation of angle of anterior chamber of eye (disorder)"
},
{
"code": "251730004",
"display": "Goniodysgenesis (disorder)"
},
{
"code": "251731000",
"display": "Barkan membrane (disorder)"
},
{
"code": "253176002",
"display": "Gillespie syndrome (disorder)"
},
{
"code": "253221000",
"display": "Lenticonus (disorder)"
},
{
"code": "253223002",
"display": "Congenital polar cataract (disorder)"
},
{
"code": "253224008",
"display": "Congenital anterior polar cataract (disorder)"
},
{
"code": "253225009",
"display": "Congenital posterior polar cataract (disorder)"
},
{
"code": "253226005",
"display": "Congenital sutural cataract (disorder)"
},
{
"code": "253228006",
"display": "Embryotoxon (disorder)"
},
{
"code": "253230008",
"display": "Congenital anterior staphyloma (disorder)"
},
{
"code": "253231007",
"display": "Aniridia type 1 (disorder)"
},
{
"code": "253232000",
"display": "Aniridia type 2 (disorder)"
},
{
"code": "253233005",
"display": "Pseudo-polycoria (disorder)"
},
{
"code": "253234004",
"display": "Congenital heterochromia iridis (disorder)"
},
{
"code": "253235003",
"display": "Congenital cyst of iris (disorder)"
},
{
"code": "253236002",
"display": "Congenital malformation of vitreous humor (disorder)"
},
{
"code": "253238001",
"display": "Partial hypoplasia of optic disc (disorder)"
},
{
"code": "253239009",
"display": "Sectorial hypoplasia of optic disc (disorder)"
},
{
"code": "253240006",
"display": "Trabecular dysgenesis (disorder)"
},
{
"code": "253241005",
"display": "Orbital dystopia (disorder)"
},
{
"code": "253242003",
"display": "Horizontal orbital dystopia (disorder)"
},
{
"code": "253243008",
"display": "Vertical orbital dystopia (disorder)"
},
{
"code": "253244002",
"display": "Rotational orbital dystopia (disorder)"
},
{
"code": "254092004",
"display": "Saldino-Mainzer dysplasia (disorder)"
},
{
"code": "254150007",
"display": "Francois syndrome (disorder)"
},
{
"code": "26098002",
"display": "Microcornea (disorder)"
},
{
"code": "26336006",
"display": "Tyrosinase-positive oculocutaneous albinism (disorder)"
},
{
"code": "26399002",
"display": "Ocular albinism (disorder)"
},
{
"code": "265569002",
"display": "Aland eye disease and ocular albinism (disorder)"
},
{
"code": "268158009",
"display": "Megalocornea (disorder)"
},
{
"code": "268160006",
"display": "Congenital corneal opacity (disorder)"
},
{
"code": "28550007",
"display": "Congenital capsular cataract (disorder)"
},
{
"code": "2884008",
"display": "Weill-Marchesani syndrome (disorder)"
},
{
"code": "29590001",
"display": "Congenital total cataract (disorder)"
},
{
"code": "302174000",
"display": "Congenital abnormality of iris and ciliary body (disorder)"
},
{
"code": "32809005",
"display": "Congenital anomaly of sclera (disorder)"
},
{
"code": "33521009",
"display": "Congenital anomaly of lens shape (disorder)"
},
{
"code": "335331000119104",
"display": "Duane's syndrome of right eye (disorder)"
},
{
"code": "335831000119107",
"display": "Congenital posterior subcapsular polar cataract of right eye (disorder)"
},
{
"code": "335841000119103",
"display": "Congenital nuclear cataract of right eye (disorder)"
},
{
"code": "335851000119101",
"display": "Congenital combined form cataract of right eye (disorder)"
},
{
"code": "335861000119104",
"display": "Congenital cataract of right eye (disorder)"
},
{
"code": "335871000119105",
"display": "Congenital anterior subcapsular polar cataract of right eye (disorder)"
},
{
"code": "340941000119101",
"display": "Duane's syndrome of left eye (disorder)"
},
{
"code": "341441000119102",
"display": "Congenital posterior subcapsular polar cataract of left eye (disorder)"
},
{
"code": "341451000119100",
"display": "Congenital nuclear cataract of left eye (disorder)"
},
{
"code": "341461000119103",
"display": "Congenital combined form cataract of left eye (disorder)"
},
{
"code": "341471000119109",
"display": "Congenital cataract of left eye (disorder)"
},
{
"code": "341481000119107",
"display": "Congenital anterior subcapsular polar cataract of left eye (disorder)"
},
{
"code": "342821000119103",
"display": "Congenital posterior subcapsular polar cataract (disorder)"
},
{
"code": "342831000119100",
"display": "Congenital combined form cataract (disorder)"
},
{
"code": "342841000119109",
"display": "Congenital choroidal fold (disorder)"
},
{
"code": "342911000119104",
"display": "Congenital anterior subcapsular polar cataract (disorder)"
},
{
"code": "346691000119104",
"display": "Congenital posterior subcapsular polar cataract of bilateral eyes (disorder)"
},
{
"code": "346701000119104",
"display": "Congenital nuclear cataract of bilateral eyes (disorder)"
},
{
"code": "346711000119101",
"display": "Congenital combined form cataract of bilateral eyes (disorder)"
},
{
"code": "346721000119108",
"display": "Congenital cataract of bilateral eyes (disorder)"
},
{
"code": "346731000119106",
"display": "Congenital anterior subcapsular polar cataract of bilateral eyes (disorder)"
},
{
"code": "348151000119103",
"display": "Congenital pit of optic disc of right eye (disorder)"
},
{
"code": "348321000119108",
"display": "Congenital zonular cataract of right eye (disorder)"
},
{
"code": "348601000119109",
"display": "Congenital pit of optic disc of left eye (disorder)"
},
{
"code": "348771000119108",
"display": "Congenital zonular cataract of left eye (disorder)"
},
{
"code": "349281000119109",
"display": "Congenital zonular cataract of bilateral eyes (disorder)"
},
{
"code": "35272001",
"display": "Microphakia (disorder)"
},
{
"code": "35387008",
"display": "Congenital aphakia (disorder)"
},
{
"code": "370483001",
"display": "Mittendorf's dot (disorder)"
},
{
"code": "3705009",
"display": "Congenital anomaly of anterior chamber of eye (disorder)"
},
{
"code": "373650004",
"display": "Hypoplasia of optic disc (disorder)"
},
{
"code": "373661007",
"display": "Optic disc structural anomaly (disorder)"
},
{
"code": "392437005",
"display": "Posterior embryotoxon (disorder)"
},
{
"code": "392461003",
"display": "Congenital ectopic pupil (disorder)"
},
{
"code": "39302008",
"display": "Fundus coloboma (disorder)"
},
{
"code": "400962005",
"display": "Congenital miosis (disorder)"
},
{
"code": "400963000",
"display": "Congenital mydriasis (disorder)"
},
{
"code": "400965007",
"display": "Congenital iris ectropion (disorder)"
},
{
"code": "403766000",
"display": "Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma (disorder)"
},
{
"code": "4041005",
"display": "Congenital anomaly of macula (disorder)"
},
{
"code": "414063002",
"display": "Duane syndrome with vertical deviation (disorder)"
},
{
"code": "415176004",
"display": "Primary congenital glaucoma (disorder)"
},
{
"code": "416671000",
"display": "Microspherophakia (disorder)"
},
{
"code": "416834004",
"display": "Epicapsular star (disorder)"
},
{
"code": "417604002",
"display": "Axenfeld-Rieger syndrome (disorder)"
},
{
"code": "418653000",
"display": "Secondary lens coloboma (disorder)"
},
{
"code": "419237004",
"display": "Ectopia lentis et pupillae (disorder)"
},
{
"code": "419281007",
"display": "Lentiglobus (disorder)"
},
{
"code": "419496009",
"display": "Congenital corneal keloid (disorder)"
},
{
"code": "419544009",
"display": "Primary lens coloboma (disorder)"
},
{
"code": "429448005",
"display": "Congenital anomaly of anterior segment of eye (disorder)"
},
{
"code": "429449002",
"display": "Congenital hypoplasia of fovea centralis (disorder)"
},
{
"code": "438504004",
"display": "Lenz microphthalmia syndrome (disorder)"
},
{
"code": "44295002",
"display": "Congenital coloboma of optic disc (disorder)"
},
{
"code": "445257004",
"display": "Nance-Horan syndrome (disorder)"
},
{
"code": "446449009",
"display": "Renal coloboma syndrome (disorder)"
},
{
"code": "4465002",
"display": "Spherophakia (disorder)"
},
{
"code": "449817000",
"display": "Peters plus syndrome (disorder)"
},
{
"code": "449866003",
"display": "Vitreoretinal dysplasia (disorder)"
},
{
"code": "45795007",
"display": "Melanosis oculi (disorder)"
},
{
"code": "47507006",
"display": "Rieger syndrome (disorder)"
},
{
"code": "48249002",
"display": "Congenital anisocoria (disorder)"
},
{
"code": "49381001",
"display": "Congenital anomaly of retina (disorder)"
},
{
"code": "51485001",
"display": "Congenital coloboma of iris (disorder)"
},
{
"code": "5361003",
"display": "Embryonal nuclear cataract (disorder)"
},
{
"code": "54359000",
"display": "Congenital corneal opacity not interfering with vision (disorder)"
},
{
"code": "55819001",
"display": "Albinotic fundus (disorder)"
},
{
"code": "56852002",
"display": "Achromatopsia (disorder)"
},
{
"code": "58882000",
"display": "Congenital cystic eyeball (disorder)"
},
{
"code": "59252009",
"display": "de Barsey syndrome (disorder)"
},
{
"code": "60318001",
"display": "Duane's syndrome (disorder)"
},
{
"code": "60505005",
"display": "Congenital anomaly of optic disc (disorder)"
},
{
"code": "61142002",
"display": "Microphthalmos (disorder)"
},
{
"code": "61649007",
"display": "Congenital oculocutaneous hypopigmentation (disorder)"
},
{
"code": "62144003",
"display": "Punctate oculocutaneous albinoidism (disorder)"
},
{
"code": "62631009",
"display": "Congenital cyst of posterior segment of eye (disorder)"
},
{
"code": "62977003",
"display": "Persistent tunica vasculosa lentis (disorder)"
},
{
"code": "63216003",
"display": "Congenital keratoconus (disorder)"
},
{
"code": "63450009",
"display": "Rufous albinism (disorder)"
},
{
"code": "63844009",
"display": "Oculocutaneous albinism (disorder)"
},
{
"code": "63890001",
"display": "Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta (disorder)"
},
{
"code": "64404003",
"display": "Osteogenesis imperfecta with blue sclerae AND normal teeth (disorder)"
},
{
"code": "6483008",
"display": "Tyrosinase-negative oculocutaneous albinism (disorder)"
},
{
"code": "65997000",
"display": "Congenital fold of posterior segment of eye (disorder)"
},
{
"code": "66499004",
"display": "Congenital cortical cataract (disorder)"
},
{
"code": "679911000119104",
"display": "Congenital cortical cataract of left eye (disorder)"
},
{
"code": "679931000119109",
"display": "Congenital cortical cataract of right eye (disorder)"
},
{
"code": "681041000119106",
"display": "Congenital cortical cataract of bilateral eyes (disorder)"
},
{
"code": "69278003",
"display": "Congenital aniridia (disorder)"
},
{
"code": "698851003",
"display": "SOX2 anophthalmia syndrome (disorder)"
},
{
"code": "699381006",
"display": "Oculoskeletal dysplasia (disorder)"
},
{
"code": "699867001",
"display": "Duane-radial ray syndrome (disorder)"
},
{
"code": "702433001",
"display": "Congenital cataracts, facial dysmorphism and neuropathy (disorder)"
},
{
"code": "703403003",
"display": "Ophthalmo-acromelic syndrome (disorder)"
},
{
"code": "711407000",
"display": "Thrombocytopathy, asplenia and miosis (disorder)"
},
{
"code": "715240000",
"display": "X-linked retinal dysplasia (disorder)"
},
{
"code": "715464002",
"display": "Microcephalus microcornea syndrome of Seemanova type (disorder)"
},
{
"code": "715484003",
"display": "Ophthalmomandibulomelic dysplasia (disorder)"
},
{
"code": "715533002",
"display": "Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)"
},
{
"code": "715632003",
"display": "Oculocutaneous albinism type 4 (disorder)"
},
{
"code": "715771008",
"display": "Microphthalmos co-occurrent with congenital ocular coloboma (disorder)"
},
{
"code": "715988005",
"display": "Cataract with aberrant oral frenula and growth delay syndrome (disorder)"
},
{
"code": "715989002",
"display": "Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder)"
},
{
"code": "716024001",
"display": "Goniodysgenesis with intellectual disability and short stature syndrome (disorder)"
},
{
"code": "716099003",
"display": "Absence deformity of leg and congenital cataract syndrome (disorder)"
},
{
"code": "716110002",
"display": "Upper limb defect with eye and ear abnormalities syndrome (disorder)"
},
{
"code": "716165003",
"display": "Microcornea with corectopia and macular hypoplasia syndrome (disorder)"
},
{
"code": "716166002",
"display": "Microcornea with glaucoma and absent frontal sinus syndrome (disorder)"
},
{
"code": "716170005",
"display": "Deafness with cataract and skeletal anomaly syndrome (disorder)"
},
{
"code": "716775009",
"display": "Nanophthalmia (disorder)"
},
{
"code": "717222003",
"display": "Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)"
},
{
"code": "717785002",
"display": "Coloboma of macula with brachydactyly type B syndrome (disorder)"
},
{
"code": "717812000",
"display": "Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder)"
},
{
"code": "717887003",
"display": "Biemond syndrome type 2 (disorder)"
},
{
"code": "717915004",
"display": "Blepharoptosis, myopia, ectopia lentis syndrome (disorder)"
},
{
"code": "7183006",
"display": "Anophthalmos (disorder)"
},
{
"code": "718574003",
"display": "Cleft palate with coloboma of eye and deafness syndrome (disorder)"
},
{
"code": "718680001",
"display": "Oro-facial digital syndrome type 9 (disorder)"
},
{
"code": "718761007",
"display": "Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder)"
},
{
"code": "718766002",
"display": "Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder)"
},
{
"code": "718851007",
"display": "Cataract glaucoma syndrome (disorder)"
},
{
"code": "719042007",
"display": "Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder)"
},
{
"code": "719096006",
"display": "Brittle cornea syndrome (disorder)"
},
{
"code": "719102004",
"display": "Congenital cataract with ataxia and deafness syndrome (disorder)"
},
{
"code": "719377004",
"display": "Microcephalus with albinism and digital anomaly syndrome (disorder)"
},
{
"code": "719824001",
"display": "Vici syndrome (disorder)"
},
{
"code": "719944006",
"display": "Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)"
},
{
"code": "719947004",
"display": "Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome (disorder)"
},
{
"code": "720009004",
"display": "Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder)"
},
{
"code": "720010009",
"display": "Microphthalmia with brain atrophy syndrome (disorder)"
},
{
"code": "720415006",
"display": "Acrorenoocular syndrome (disorder)"
},
{
"code": "720467005",
"display": "Aniridia and absent patella syndrome (disorder)"
},
{
"code": "720468000",
"display": "Aniridia and intellectual disability syndrome (disorder)"
},
{
"code": "720496006",
"display": "Anophthalmia plus syndrome (disorder)"
},
{
"code": "720511000",
"display": "Arrhinia with choanal atresia and microphthalmia syndrome (disorder)"
},
{
"code": "720636001",
"display": "Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder)"
},
{
"code": "720639008",
"display": "Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder)"
},
{
"code": "720749004",
"display": "Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder)"
},
{
"code": "720850008",
"display": "Choroidal atrophy and alopecia syndrome (disorder)"
},
{
"code": "720856002",
"display": "Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)"
},
{
"code": "720958002",
"display": "Frank-Ter Haar syndrome (disorder)"
},
{
"code": "720983002",
"display": "Amaurosis hypertrichosis syndrome (disorder)"
},
{
"code": "720987001",
"display": "Aniridia, ptosis, intellectual disability, familial obesity syndrome (disorder)"
},
{
"code": "721015008",
"display": "Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder)"
},
{
"code": "721076000",
"display": "Siegler Brewer Carey syndrome (disorder)"
},
{
"code": "721084001",
"display": "Deaf blind hypopigmentation syndrome Yemenite type (disorder)"
},
{
"code": "721208007",
"display": "Ectodermal dysplasia with blindness syndrome (disorder)"
},
{
"code": "721233005",
"display": "Hypergonadotropic hypogonadism with cataract syndrome (disorder)"
},
{
"code": "721878003",
"display": "Microphthalmia with brain and digit anomaly (disorder)"
},
{
"code": "721879006",
"display": "Microphthalmia with linear skin defect syndrome (disorder)"
},
{
"code": "722054007",
"display": "Ocular albinism with late-onset sensorineural deafness (disorder)"
},
{
"code": "722056009",
"display": "Oculocerebrofacial syndrome Kaufman type (disorder)"
},
{
"code": "722057000",
"display": "Oculocutaneous albinism type 5 (disorder)"
},
{
"code": "722058005",
"display": "Oculocutaneous albinism type 6 (disorder)"
},
{
"code": "722059002",
"display": "Oculocutaneous albinism type 7 (disorder)"
},
{
"code": "722062004",
"display": "Oculotrichodysplasia (disorder)"
},
{
"code": "722113001",
"display": "Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)"
},
{
"code": "722282008",
"display": "Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)"
},
{
"code": "722378009",
"display": "Congenital cataract with deafness and hypogonadism syndrome (disorder)"
},
{
"code": "722379001",
"display": "Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder)"
},
{
"code": "722380003",
"display": "Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder)"
},
{
"code": "722381004",
"display": "Congenital cataract, nephropathy, encephalopathy syndrome (disorder)"
},
{
"code": "722382006",
"display": "Cataract and microcornea syndrome (disorder)"
},
{
"code": "722432000",
"display": "Duane anomaly, myopathy, scoliosis syndrome (disorder)"
},
{
"code": "722437006",
"display": "Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder)"
},
{
"code": "722439009",
"display": "Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder)"
},
{
"code": "722450007",
"display": "Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder)"
},
{
"code": "722457005",
"display": "Juvenile cataract, microcornea, renal glucosuria syndrome (disorder)"
},
{
"code": "722458000",
"display": "Matthew Wood syndrome (disorder)"
},
{
"code": "722463001",
"display": "Macular coloboma, cleft palate, hallux valgus syndrome (disorder)"
},
{
"code": "722604002",
"display": "Optic disc dysplasia (disorder)"
},
{
"code": "723131006",
"display": "Megalopapilla (disorder)"
},
{
"code": "723449004",
"display": "Pierson syndrome (disorder)"
},
{
"code": "723503006",
"display": "Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)"
},
{
"code": "723584003",
"display": "Stern Lubinsky Durrie syndrome (disorder)"
},
{
"code": "723612001",
"display": "Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder)"
},
{
"code": "723999009",
"display": "Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder)"
},
{
"code": "724139004",
"display": "Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder)"
},
{
"code": "724140002",
"display": "Microspherophakia with metaphyseal dysplasia syndrome (disorder)"
},
{
"code": "724281002",
"display": "Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder)"
},
{
"code": "725289009",
"display": "5-amino-4-imidazole carboxamide ribosiduria (disorder)"
},
{
"code": "726619004",
"display": "Ptosis, strabismus, ectopic pupil syndrome (disorder)"
},
{
"code": "726704006",
"display": "Cataract, congenital heart disease, neural tube defect syndrome (disorder)"
},
{
"code": "726709001",
"display": "Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)"
},
{
"code": "732247000",
"display": "Cleft lip retinopathy syndrome (disorder)"
},
{
"code": "732952003",
"display": "Congenital cataract ichthyosis syndrome (disorder)"
},
{
"code": "733032006",
"display": "Epilepsy telangiectasia syndrome (disorder)"
},
{
"code": "733049004",
"display": "Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)"
},
{
"code": "733088002",
"display": "Preaxial polydactyly, colobomata, intellectual disability syndrome (disorder)"
},
{
"code": "733110004",
"display": "Van den Bosch syndrome (disorder)"
},
{
"code": "733116005",
"display": "Aniridia, renal agenesis, psychomotor retardation syndrome (disorder)"
},
{
"code": "733522005",
"display": "Megalocornea with intellectual disability syndrome (disorder)"
},
{
"code": "733626002",
"display": "Atypical Norrie disease due to monosomy Xp11.3 (disorder)"
},
{
"code": "734026006",
"display": "Isolated congenital megalocornea (disorder)"
},
{
"code": "737579002",
"display": "Congenital coloboma of macula lutea (disorder)"
},
{
"code": "74969002",
"display": "Congenital ectopic lens (disorder)"
},
{
"code": "75340008",
"display": "Congenital keratoconus posticus circumscriptus (disorder)"
},
{
"code": "7611002",
"display": "Septo-optic dysplasia sequence (disorder)"
},
{
"code": "762402007",
"display": "Congenital anomaly of zonula (disorder)"
},
{
"code": "763619009",
"display": "White forelock with malformations syndrome (disorder)"
},
{
"code": "763669001",
"display": "Spastic ataxia with congenital miosis (disorder)"
},
{
"code": "763815000",
"display": "Oculoauricular syndrome Schorderet type (disorder)"
},
{
"code": "764452004",
"display": "Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (disorder)"
},
{
"code": "764942005",
"display": "Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)"
},
{
"code": "765146000",
"display": "Oculocutaneous albinism type 1 (disorder)"
},
{
"code": "76562003",
"display": "Congenital subcapsular cataract (disorder)"
},
{
"code": "768932000",
"display": "Coloboma of choroid and retina (disorder)"
},
{
"code": "770604006",
"display": "X-linked cerebral, cerebellar, coloboma syndrome (disorder)"
},
{
"code": "770728003",
"display": "Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)"
},
{
"code": "771148008",
"display": "X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)"
},
{
"code": "772224009",
"display": "Warburg micro syndrome (disorder)"
},
{
"code": "772225005",
"display": "RAB18, member RAS oncogene family deficiency (disorder)"
},
{
"code": "773280009",
"display": "Hydrocephalus, blue sclera, nephropathy syndrome (disorder)"
},
{
"code": "773282001",
"display": "Macrosomia, microphthalmia, cleft palate syndrome (disorder)"
},
{
"code": "773398005",
"display": "Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome (disorder)"
},
{
"code": "773627004",
"display": "Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder)"
},
{
"code": "773628009",
"display": "Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder)"
},
{
"code": "773648002",
"display": "Congenital cataract, hearing loss, severe developmental delay syndrome (disorder)"
},
{
"code": "773690008",
"display": "Microcornea, posterior megalolenticonus, persistent fetal vasculature, coloboma syndrome (disorder)"
},
{
"code": "774212003",
"display": "Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder)"
},
{
"code": "776204008",
"display": "Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome (disorder)"
},
{
"code": "778021002",
"display": "Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome (disorder)"
},
{
"code": "778042000",
"display": "Foveal hypoplasia with presenile cataract syndrome (disorder)"
},
{
"code": "782754006",
"display": "Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder)"
},
{
"code": "783246000",
"display": "Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)"
},
{
"code": "783551005",
"display": "Ichthyosis, short stature, brachydactyly, microspherophakia syndrome (disorder)"
},
{
"code": "785298001",
"display": "Muscle eye brain disease with bilateral multicystic leukodystrophy (disorder)"
},
{
"code": "786076007",
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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