OMOP Concept 36674192
2p13.2 microdeletion syndrome
StandardConditionSNOMED770756008Disorder
Maps from
0
Descendants
0
Valid from
31 Jan 2019
Valid to
31 Dec 2099
OMOP concepts
Concept Lookup Tool
Search 11M+ concepts across SNOMED, RxNorm, ICD-10 & LOINC.
Synonyms
Alternative names recorded for 2p13.2 microdeletion syndrome across source vocabularies.
- 2p13.2 microdeletion syndrome (disorder)
- síndrome de microdeleción 2p13.2
- síndrome de microdeleción 2p13.2 (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(40)Roll up to these when you need a wider cohort.
- 1Autosomal dominant hereditary disorder
- 1Deletion of part of short arm of chromosome 2
- 1Developmental hereditary disorder
- 1Genetic intellectual disability
- 1Multiple malformation syndrome with facial defects as major feature
- 2Autosomal hereditary disorder
- 2Congenital anomaly of face
- 2Deletion of part of chromosome 2
- 2Developmental disorder
- 2Genetic disease
- 2Hereditary disease
- 2Intellectual disability
- 2Multiple system malformation syndrome
- 3Abnormal behavior
- 3Anomaly of chromosome pair 2
- 3Congenital anomaly of head
- 3Congenital malformation syndrome
- 3Deletion of part of autosome
- 3Disease
- 3Disorder of face
- 3Impaired cognition
- 3Intellectual ability - finding
- 3Neurodevelopmental disorder
- 4Anomaly of chromosome pair
- 4Behavior finding
Showing 25 of 40. Retrieve the full set via the API.
Get this concept via the API
Resolve 2p13.2 microdeletion 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/36674192?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card