{"orpha":99068,"name":"Complete atrioventricular septal defect-tetralogy of Fallot","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["CAVC-tetralogy of Fallot","Complete AVSD-tetralogy of Fallot","Complete atrioventricular canal defect-tetralogy of Fallot"],"definition":null,"note":"This disease is described under Complete atrioventricular septal defect","url":"https://raremap.alftech.space/d/ORPHA-99068/","orphanet_url":"https://www.orpha.net/en/disease/detail/99068","names":{"fr":{"name":"Canal atrioventriculaire complet-tétralogie de Fallot","synonyms":["CAVC-tétralogie de Fallot","Communication atrioventriculaire complète-tétralogie de Fallot","Communication auriculo-ventriculaire complète-tétralogie de Fallot","Défaut complet du septum atrioventriculaire-tétralogie de Fallot","Défaut septal atrioventriculaire complet-tétralogie de Fallot","Défaut septal auriculo-ventriculaire complet-tétralogie de Fallot"]},"de":{"name":"Kompletter atrioventrikulärer Septumdefekt mit Fallot-Tetralogie","synonyms":["CAVC-Fallot-Tetralogie","Kompletter AV-Kanal-Defekt mit Fallot-Tetralogie","Kompletter AVSD mit Fallot-Tetralogie"]},"es":{"name":"Defecto del septo aurículoventricular completo con Tetralogía de Fallot","synonyms":["CAVC con Tetralogía de Fallot","Canal aurículoventricular completo con Tetralogía de Fallot"]},"it":{"name":"CAVC - tetralogia di Fallot"},"nl":{"name":"Compleet atrioventriculair septumdefect - tetralogie van Fallot","synonyms":["CAVC - tetralogie van Fallot","Compleet AVSD - tetralogie van Fallot","Compleet defect van atrioventriculair kanaal - tetralogie van Fallot"]},"pt":{"name":"Canal auriculoventricular completo-tetralogia de Fallot"},"pl":{"name":"Zespół całkowitego kanału przedsionkowo-komorowego i tetralogii Fallota","synonyms":["CAVC typu C","Zespół CAVC i tetralogii Fallota","Całkowity kanał przedsionkowo-komorowy typu C"]},"cs":{"name":"Syndrom kompletního AV kanálu s Fallotovou tetralogií","synonyms":["CAVC typ C","Syndrom zahrnující CAVC a Fallotovu tetralogii","Kompletní atrioventrikulární kanál, typ C"]},"uk":{"name":"Повна атріовентрикулярна комунікація-тетрада Фалло","synonyms":["CAVC-тетралогія Фалло","Повна вада атріовентрикулярного каналу - тетрада Фалло","Повна AVSD-тетралогія Фалло"]},"zh":{"name":"完全性房室间隔缺损-法洛四联症","synonyms":["完全性房室通道缺损-法洛四联症"]},"tr":{"name":"Tam atriyoventriküler septal defekt-Fallot tetralojisi","synonyms":["Fallot CAVC tetralojisi","Fallot tam AVSD tetralojisi","Tam atriyoventriküler kanal defekti-Fallot tetralojisi"]}},"xrefs":[{"source":"OMIM","code":"615779","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q21.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA87.45","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"915281294"},{"source":"MONDO","code":"0020408","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3640086","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":1329,"name":"Complete atrioventricular septal defect","classifications":[147,148,156]}],"children":[],"genes":[{"symbol":"GATA4","name":"GATA binding protein 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18672102[PMID]_17643447[PMID]","hgnc":"4173","ensembl":"ENSG00000136574","omim":"600576","loci":["8p23.1"]},{"symbol":"CRELD1","name":"CRELD disulfide isomerase 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"12632326[PMID]_15096951[PMID]","hgnc":"14630","ensembl":"ENSG00000163703","omim":"607170","loci":["3p25.3"]},{"symbol":"NR2F2","name":"nuclear receptor subfamily 2 group F member 2","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"24702954[PMID]","hgnc":"7976","ensembl":"ENSG00000185551","omim":"107773","loci":["15q26.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}