conotruncal heart malformations https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/6740 https://github.com/monarch-initiative/mondo/issues/6876 https://www.malacards.org/card/conotruncal_heart_malformations SCTID:218728005 conotruncal cardiac defects OMIM:217095 NANDO:2200275 conotruncal heart malformations, variable Orphanet:2445 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). Taussig-Bing syndrome or defect UMLS:C1857586 MEDGEN:341803 ICD9:747.11 conotruncal heart malformations GARD:0008189 CTHM congenital heart malformation