{"orpha":576227,"name":"Complete atrioventricular septal defect without ventricular hypoplasia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Balanced complete atrioventricular canal","CAVC without ventricular hypoplasia","Complete AVSD without ventricular hypoplasia","Complete atrioventricular canal defect without ventricular hypoplasia","Complete atrioventricular septal defect with balanced ventricles"],"definition":null,"note":"This disease is described under Complete atrioventricular septal defect","url":"https://raremap.alftech.space/d/ORPHA-576227/","orphanet_url":"https://www.orpha.net/en/disease/detail/576227","names":{"fr":{"name":"Canal atrioventriculaire complet sans hypoplasie ventriculaire","synonyms":["CAVC sans hypoplasie ventriculaire","Communication atrioventriculaire complète sans hypoplasie ventriculaire","Communication atrioventriculaire complète équilibrée","Communication auriculo-ventriculaire complète sans hypoplasie ventriculaire","Communication auriculo-ventriculaire complète équilibrée","Défaut complet du septum atrioventriculaire sans hypoplasie ventriculaire","Défaut septal atrioventriculaire complet sans hypoplasie ventriculaire","Défaut septal atrioventriculaire complet équilibré","Défaut septal auriculo-ventriculaire complet sans hypoplasie ventriculaire"]},"de":{"name":"Kompletter atrioventrikulärer Septumdefekt ohne ventrikuläre Hypoplasie","synonyms":["Kompletter atrioventrikulärer Kanal ohne ventrikuläre Hypoplasie"]},"es":{"name":"Comunicación auriculoventricular completa sin hipoplasia ventricular","synonyms":["Defecto septal auriculoventricular completo sin hipoplasia ventricular"]},"it":{"name":"Difetto completo del setto atrioventricolare senza ipoplasia ventricolare","synonyms":["AVSD completo senza ipoplasia ventricolare","CAVC senza ipoplasia ventricolare","Canale atrioventricolare completo bilanciato","Canale atrioventricolare completo senza ipoplasia ventricolare","Difetto completo del setto atrioventricolare con ventricoli bilanciati"]},"nl":{"name":"Totaal atrioventriculair septumdefect zonder ventrikelhypoplasie"},"pt":{"name":"Defeito septal auriculoventricular completo sem hipoplasia ventricular"},"pl":{"name":"Całkowity ubytek przegrody przedsionkowo-komorowej bez hipoplazji komór","synonyms":["Całkowity AVSD bez hipoplazji komór"]},"cs":{"name":"Úplný atrioventrikulární septální defekt bez ventrikulární hypoplázie","synonyms":["Balanced complete atrioventricular canal","CAVC without ventricular hypoplasia","Complete AVSD without ventricular hypoplasia","Complete atrioventricular canal defect without ventricular hypoplasia","Complete atrioventricular septal defect with balanced ventricles"]},"uk":{"name":"Повна атріовентрикулярна комунікація без гіпоплазії шлуночків","synonyms":["Збалансований повний атріовентрикулярний канал","CAVC без гіпоплазії шлуночків","Повна вада атріовентрикулярного каналу без гіпоплазії шлуночків","Повний дефект атріовентрикулярної перегородки зі збалансованими шлуночками","Повна AVSD без гіпоплазії шлуночків"]},"zh":{"name":"完全性房室间隔缺损伴无心室发育不良","synonyms":["Complete AVSD without ventricular hypoplasia"]},"tr":{"name":"Ventriküler hipoplazisiz tam atriyoventriküler septal defekt","synonyms":["Dengeli ventriküller ile seyreden atriyoventriküler septal defekt","Ventriküler hipoplazi ile seyretmeyen tam atriyoventriküler kanal defekti","Ventriküler hipoplazisiz ile seyreden CAVC","Dengeli tam atriyoventriküler kanal","Ventriküler hipoplazisiz ile seyreden tam AVSD"]}},"xrefs":[{"source":"ICD-10","code":"Q21.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"UMLS","code":"C5680353","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":"MEF2C","name":"myocyte enhancer factor 2C","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"35719119[PMID]","hgnc":"6996","ensembl":"ENSG00000081189","omim":"600662","loci":["5q14.3"]}],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}