{"orpha":99104,"name":"Atrial septal defect, coronary sinus type","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["ASD, coronary sinus type","Unroofed coronary sinus"],"definition":null,"note":"This disease is described under Interatrial communication","url":"https://raremap.alftech.space/d/ORPHA-99104/","orphanet_url":"https://www.orpha.net/en/disease/detail/99104","names":{"fr":{"name":"Communication interauriculaire type sinus coronaire","synonyms":["ASD type sinus coronaire","CIA type sinus coronaire","Communication interauriculaire avec fenestration du toit du sinus coronaire"]},"de":{"name":"Atriumseptumdefekt, Koronarsinus Typ","synonyms":["ASD vom Koronarsinus-Typ","Koronarsinus-Defekt","Vorhofseptumdefekt vom Koronarsinus-Typ"]},"es":{"name":"Comunicación interauricular, tipo seno coronario","synonyms":["CIA, tipo seno coronario","Seno coronario destechado"]},"it":{"name":"Fistola coronarica, tipo DIA"},"nl":{"name":"Atriaal septaal defect, coronaire sinus-type","synonyms":["ASD, coronaire sinus-type","Niet afgedekte coronaire sinus"]},"pt":{"name":"Defeito do septo auricular, tipo seio coronário","synonyms":["Seio coronário, tipo ASD"]},"pl":{"name":"Ubytek przegrody międzyprzedsionkowej, typ zatoki wieńcowej","synonyms":["ASD, typ zatoki wieńcowej","Nieukorzeniona zatoka wieńcowa"]},"cs":{"name":"Defekt síňového septa, typ sinus coronarius","synonyms":["ASD, typ sinus coronarius","Nezastřešený sinus coronarius"]},"uk":{"name":"ВВС. Дефект міжпередсердної перетинки по типу дефекта коронарного синуса (непокритий коронарний синус)","synonyms":["ASD, коронарний синусовий тип","Незароговілий коронарний синус"]},"zh":{"name":"房间隔缺损冠状静脉窦型","synonyms":["冠状窦型房间隔缺损"]},"tr":{"name":"Atriyal septal defekt, koroner sinüs tipi","synonyms":["Çatısız koroner sinüs","ASD, koroner sinüs tipi"]}},"xrefs":[{"source":"ICD-10","code":"Q21.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LA8E.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"664625334"},{"source":"MONDO","code":"0020435","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0344733","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10697","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":1478,"name":"Interatrial communication","classifications":[147,148,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-03-10","source":"9374080[PMID]_22122378[PMID]_27161562[PMID]_30571061[PMID]","terms":[{"hpo":"HP:0012382","label":"Left-to-right shunt","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031297","label":"Unroofed coronary sinus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031687","label":"Abnormally loud pulmonic component of the second heart sound","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031634","label":"Anomalous origin of the left common carotid artery from the main pulmonary artery","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010772","label":"Anomalous pulmonary venous return","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031664","label":"Systolic heart murmur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011710","label":"Bundle branch block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031972","label":"Presyncope","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030718","label":"Right atrial enlargement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005133","label":"Right ventricular dilatation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005115","label":"Supraventricular arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002326","label":"Transient ischemic attack","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005317","label":"Increased pulmonary vascular resistance","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002718","label":"Recurrent bacterial infections","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001708","label":"Right ventricular failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Very rare (<4-1%)","criteria":null}]}}