{"orpha":98722,"name":"Atrioventricular septal defect","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["AVSD","Atrioventricular canal defect"],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-98722/","orphanet_url":"https://www.orpha.net/en/disease/detail/98722","names":{"fr":{"name":"Canal atrioventriculaire","synonyms":["Anomalie du canal atrioventriculaire","Anomalie du canal auriculo-ventriculaire","Communication atrioventriculaire","Communication auriculo-ventriculaire","Défaut du septum atrioventriculaire","Défaut septal atrioventriculaire","Défaut septal auriculo-ventriculaire"]},"de":{"name":"Atrioventrikulärer Septumdefekt","synonyms":["AV-Kanaldefekt","AVSD","Atrioventrikularkanaldefekt"]},"es":{"name":"Defecto de la comunicación auriculoventricular","synonyms":["AVSD","Defecto del canal auriculoventricular"]},"it":{"name":"Difetto del canale atrioventricolare","synonyms":["AVSD","Difetto del setto atrioventricolare"]},"nl":{"name":"Atrioventriculair septumdefect","synonyms":["AVSD","Defect van atrioventriculair kanaal"]},"pt":{"name":"Defeito do canal auriculoventricular"},"pl":{"name":"Kanał przedsionkowo-komorowy","synonyms":["AVSD","Wada przegrody przedsionkowo-komorowej"]},"cs":{"name":"Defekt atrioventrikulárního kanálu","synonyms":["AVSD","Atrioventrikulární septální defekt"]},"uk":{"name":"Атріовентрикулярна комунікація","synonyms":["Дефект атріовентрикулярного каналу","AVSD"]},"zh":{"name":"房室间隔缺损","synonyms":["房室管缺损"]},"tr":{"name":"Atriyoventriküler septal defekt","synonyms":["AVSD","Atriyoventriküler kanal defekti"]}},"xrefs":[{"source":"OMIM","code":"606215","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606217","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614430","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614474","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615779","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q21.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA87.4","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1069974993"},{"source":"MeSH","code":"C562831","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1389018","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"802","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10063836","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98720,"name":"Atrioventricular valve anomaly","classifications":[147,148]},{"orpha":271853,"name":"Genetic cardiac anomaly","classifications":[156]}],"children":[{"orpha":1329,"name":"Complete atrioventricular septal defect","type":"Morphological anomaly"},{"orpha":576242,"name":"Intermediate atrioventricular septal defect","type":"Morphological anomaly"},{"orpha":1330,"name":"Partial atrioventricular septal defect","type":"Morphological anomaly"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}