{"orpha":99051,"name":"Discrete fixed membranous subaortic stenosis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Fixed subaortic stenosis","url":"https://raremap.alftech.space/d/ORPHA-99051/","orphanet_url":"https://www.orpha.net/en/disease/detail/99051","names":{"fr":{"name":"Sténose subaortique membraneuse modérée"},"de":{"name":"Subaortenstenose, diskrete fixierte membranöse"},"es":{"name":"Estenosis subaórtica membranosa fija discreta"},"it":{"name":"Stenosi subaortica membranosa moderata"},"nl":{"name":"Afzonderlijk gefixeerde membraneuze subaortastenose"},"pt":{"name":"Estenose subaórtica membranosa, fixa, discreta"},"pl":{"name":"Dyskretne błonowe zwężenie podzastawkowe aorty"},"cs":{"name":"Diskrétní fixní membranózní subaortální stenóza"},"uk":{"name":"Дискретний фіксований мембранний субаортальний стеноз"},"zh":{"name":"分离性固定性膜性主动脉瓣下狭窄"},"tr":{"name":"Ayrık sabit membranöz subaortik darlık"}},"xrefs":[{"source":"OMIM","code":"271950","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q24.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA8A.5","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"UMLS","code":"C5681646","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":3092,"name":"Fixed subaortic stenosis","classifications":[147,148,198]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}