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conotruncal heart malformations

^ http://purl.obolibrary.org/obo/MONDO_0016581

Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome. A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon). [ Orphanet:2445 ]

Term info

database cross reference
  • Orphanet:2445 (MONDO:equivalentTo)
  • ICD9:747.11 (MONDO:i2s)
  • OMIM:217095 (Orphanet:2445/e)
  • SCTID:218728005 (MONDO:equivalentTo)
  • GARD:0008189 (MONDO:equivalentTo)
  • UMLS:C1857586 (Orphanet:2445/e)
Subsets

disease_grouping, ordo_group_of_disorders

abbreviation
CTHM [ OMIM:217095 MONDO:Lexical ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

definition

Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome. A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).

exactMatch

http://purl.obolibrary.org/obo/Orphanet_2445, https://omim.org/entry/217095, http://identifiers.org/snomedct/218728005, http://linkedlifedata.com/resource/umls/id/C1857586

has exact synonym

conotruncal heart malformations, Taussig-Bing syndrome or defect, conotruncal heart malformations, variable

has related synonym

persistent truncus arteriosus, conotruncal anomaly face syndrome, Double-outlet right ventricle, conotruncal cardiac defects, CTHM, truncus arteriosus communis, interrupted aortic Arch

id

MONDO:0016581