conotruncal anomaly face syndrome

Preferred Label : conotruncal anomaly face syndrome;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0537457;

UMLS CUI

C0795907;

Automatic exact mappings (from CISMeF team)
- 22q11.2 deletion syndrome [ORDO Disease]
- 22q11.2 deletion syndrome (disorder) [SNOMED CT concept]
- Conotruncal heart malformations [OMIM Phenotype]
Related record
- digeorge syndrome [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to BTNT
- CATCH 22 phenotype [ICD-11 Sub-sub category]