OMOP Concept 37206825
21q22.11q22.12 microdeletion syndrome
StandardConditionSNOMED787171006Disorder
Maps from
0
Descendants
0
Valid from
31 Jul 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 21q22.11q22.12 microdeletion syndrome across source vocabularies.
- 21q22.11q22.12 microdeletion syndrome (disorder)
- Monosomy 21q22.11q22.12
- síndrome de microdeleción 21q22.11q22.12
- síndrome de microdeleción 21q22.11q22.12 (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(44)Roll up to these when you need a wider cohort.
- 121q partial monosomy syndrome
- 1Genetic intellectual disability
- 1Multiple malformation syndrome with facial defects as major feature
- 1Short stature disorder
- 2Congenital anomaly of face
- 2Deletion of part of chromosome 21
- 2Disorder of stature
- 2Genetic disease
- 2Intellectual disability
- 2Multiple system malformation syndrome
- 2Short stature
- 3Abnormal behavior
- 3Anomaly of chromosome pair 21
- 3Body height below reference range
- 3Congenital anomaly of head
- 3Congenital malformation syndrome
- 3Deletion of part of autosome
- 3Developmental disorder
- 3Disease
- 3Disorder of face
- 3Finding of general physiological development
- 3General finding of height
- 3Impaired cognition
- 3Intellectual ability - finding
- 3Neurodevelopmental disorder
Showing 25 of 44. Retrieve the full set via the API.
Get this concept via the API
Resolve 21q22.11q22.12 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/37206825?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card