OMOP Concept 36713798
Syndromic microphthalmia type 5
StandardConditionSNOMED718761007Disorder
Maps from
2
Descendants
0
Valid from
31 Jan 2017
Valid to
31 Dec 2099
OMOP concepts
Concept Lookup Tool
Search 11M+ concepts across SNOMED, RxNorm, ICD-10 & LOINC.
Source codes that map to this concept
2 source codes normalize to Syndromic microphthalmia type 5 via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C566441 | Microphthalmia, Syndromic 5 | Non-standard |
| Nebraska Lexicon | 718761007 | Syndromic microphthalmia due to orthodenticle homeobox 2 mutation | Non-standard |
Synonyms
Alternative names recorded for Syndromic microphthalmia type 5 across source vocabularies.
- microftalmía sindrómica debida a mutación del gen orthodenticle homeobox 2
- microftalmía sindrómica debida a mutación del gen orthodenticle homeobox 2 (trastorno)
- Syndromic microphthalmia due to orthodenticle homeobox 2 mutation
- Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder)
- Syndromic microphthalmia due to OTX2 mutation
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(28)Roll up to these when you need a wider cohort.
- 1Autosomal dominant hereditary disorder
- 1Developmental hereditary disorder
- 1Hereditary disorder of the visual system
- 1Microphthalmos
- 2Autosomal hereditary disorder
- 2Congenital anomaly of eye
- 2Developmental disorder
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Visual system disorder
- 3Anomaly of eye
- 3Congenital anomaly of head
- 3Congenital anomaly of visual system
- 3Disease
- 3Disorder of body system
- 3Eye / vision finding
- 3Genetic disease
- 4Clinical finding
- 4Congenital malformation
- 4Disorder of eye
- 4Disorder of head
- 5Congenital disease
- 5Disorder of eye region
- 5Disorder of sensory organ
- 5Globe finding
Get this concept via the API
Resolve Syndromic microphthalmia type 5 - and every code that maps to it - over HTTPS, against the current vocabulary release. No downloads, no local database.
curl "https://api.omophub.com/v1/concepts/36713798?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card