OMOP Concept 35624485
22q11.2 deletion syndrome
StandardConditionSNOMED767263007Disorder
Maps from
17
Descendants
0
Valid from
31 Jul 2018
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
17 source codes normalize to 22q11.2 deletion syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 112978 | Shprintzen syndrome | Non-standard |
| CIEL | 142334 | 22q11.2 deletion syndrome | Non-standard |
| CIM10 | D82.1 | Di George syndrome | Non-standard |
| ICD10 | D82.1 | Di George syndrome | Non-standard |
| ICD10CM | D82.1 | Di George's syndrome | Non-standard |
| ICD10CM | Q93.81 | Velo-cardio-facial syndrome | Non-standard |
| ICD10CN | D82.1 | Di George syndrome | Non-standard |
| ICD10CN | D82.100 | Di George syndrome | Non-standard |
| ICD10GM | D82.1 | Di George syndrome | Non-standard |
| ICD9CM | 279.11 | Digeorge's syndrome | Non-standard |
| ICD9CM | 758.32 | Velo-cardio-facial syndrome | Non-standard |
| KCD7 | D82.1 | Di George’s syndrome | Non-standard |
| MeSH | D004062 | DiGeorge Syndrome | Non-standard |
| Read | C391100 | Di George syndrome | Non-standard |
| Read | PJ33600 | Chromosome 22q11 deletion syndrome | Non-standard |
| Read | PJ3y000 | Shprintzen syndrome | Non-standard |
| Read | PJ3y011 | Velocardiofacial syndrome | Non-standard |
Synonyms
Alternative names recorded for 22q11.2 deletion syndrome across source vocabularies.
- 22q11.2 deletion syndrome (disorder)
- CATCH 22
- Cayler cardiofacial syndrome
- Conotruncal anomaly face syndrome
- DiGeorge sequence
- DiGeorge syndrome
- Microdeletion 22q11.2
- Sedlackova syndrome
- Shprintzen syndrome
- síndrome de deleción 22q11.2
- síndrome de deleción 22q11.2 (trastorno)
- Takao syndrome
- Velocardiofacial syndrome
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(17)Roll up to these when you need a wider cohort.
- 122q partial monosomy
- 1Genetic disease
- 1Multiple system malformation syndrome
- 2Congenital malformation syndrome
- 2Deletion of part of chromosome 22
- 2Disease
- 3Anomaly of chromosome pair 22
- 3Clinical finding
- 3Congenital malformation
- 3Deletion of part of autosome
- 4Anomaly of chromosome pair
- 4Congenital disease
- 4Developmental disorder
- 4Monosomy and deletion from autosome
- 5Congenital chromosomal disease
- 5Fetal and/or neonatal disorder
- 6Chromosomal disorder
Get this concept via the API
Resolve 22q11.2 deletion 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/35624485?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card