OMOP Concept 36715011
Aniridia and absent patella syndrome
StandardConditionSNOMED720467005Disorder
Maps from
1
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
1 source code normalizes to Aniridia and absent patella syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C566281 | Aniridia and Absent Patella | Non-standard |
Synonyms
Alternative names recorded for Aniridia and absent patella syndrome across source vocabularies.
- Aniridia and absent patella syndrome (disorder)
- síndrome de aniridia y rótula ausente
- síndrome de aniridia y rótula ausente (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(69)Roll up to these when you need a wider cohort.
- 1Autosomal dominant hereditary disorder
- 1Congenital aniridia
- 1Congenital anomaly of patella
- 1Developmental hereditary disorder
- 1Hereditary disorder of musculoskeletal system
- 1Hereditary disorder of the visual system
- 1Multiple malformation syndrome with limb defect as major feature
- 2Autosomal hereditary disorder
- 2Congenital absence of eye
- 2Congenital anomaly of iris
- 2Congenital anomaly of lower limb
- 2Congenital anomaly of skeletal bone
- 2Developmental disorder
- 2Disorder of musculoskeletal system
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Multiple system malformation syndrome
- 2Structural abnormality of patella
- 2Visual system disorder
- 3Congenital abnormality of lower limb and pelvic girdle
- 3Congenital anomaly of anterior segment of eye
- 3Congenital anomaly of eye
- 3Congenital anomaly of limb
- 3Congenital anomaly of musculoskeletal system
- 3Congenital malformation syndrome
Showing 25 of 69. Retrieve the full set via the API.
Get this concept via the API
Resolve Aniridia and absent patella syndrome - 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/36715011?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card