OMOP Concept 44782854
SOX2 anophthalmia syndrome
StandardConditionSNOMED698851003Disorder
Maps from
2
Descendants
0
Valid from
31 Jan 2014
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
2 source codes normalize to SOX2 anophthalmia syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C565948 | Microphthalmia, Syndromic 3 | Non-standard |
| Nebraska Lexicon | 698851003 | Anophthalmia-esophageal-genital syndrome | Non-standard |
Synonyms
Alternative names recorded for SOX2 anophthalmia syndrome across source vocabularies.
- AEG - anophthalmia-esophageal-genital syndrome
- Anophthalmia-esophageal-genital syndrome
- síndrome anoftálmico-esofágico-genital
- síndrome de anoftalmía relacionada con SOX2
- síndrome de anoftalmía relacionada con SOX2 (trastorno)
- SOX2 anophthalmia syndrome (disorder)
- SOX2-related eye disorder
- Syndromic microphthalmia 3
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(27)Roll up to these when you need a wider cohort.
- 1Autosomal dominant hereditary disorder
- 1Congenital anomaly of eye
- 1Developmental hereditary disorder
- 1Hereditary disorder of the visual system
- 2Anomaly of eye
- 2Autosomal hereditary disorder
- 2Congenital anomaly of head
- 2Congenital anomaly of visual system
- 2Developmental disorder
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Visual system disorder
- 3Congenital malformation
- 3Disease
- 3Disorder of body system
- 3Disorder of eye
- 3Disorder of head
- 3Eye / vision finding
- 3Genetic disease
- 4Clinical finding
- 4Congenital disease
- 4Disorder of eye region
- 4Disorder of sensory organ
- 4Globe finding
- 4Head finding
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