loading...| Preferred Name |
Conotruncal heart malformations |
| ID |
http://www.orpha.net/ORDO/Orphanet_2445 |
| definition |
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). |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2445 |
| hasDbXref |
OMIM:217095 UMLS:C1857586 |
| label |
Conotruncal heart malformations |
| notation |
Category ORPHA:2445 |
| prefixIRI |
ORDO:Orphanet_2445 |
| prefLabel |
Conotruncal heart malformations |
| subClassOf |