{"orpha":1987,"name":"Isolated femoral agenesis/hypoplasia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["CFD","CSF","Isolated congenital femoral deficiency","Isolated congenital short femur","Isolated femoral intercalary meromelia"],"definition":"Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1987/","orphanet_url":"https://www.orpha.net/en/disease/detail/1987","names":{"fr":{"name":"Agénésie/hypoplasie du fémur isolée","synonyms":["Agénésie/hypoplasie fémorale isolée","Déficience fémorale congénitale isolée","Méromélie intercalaire fémorale isolée"],"definition":"Malformation rare de sévérité variable, allant d'une hypoplasie légère à l'absence totale du fémur."},"de":{"name":"Femuragenesie/-hypoplasie, isolierte","synonyms":["CSF","Isolierte femorale interkalare Meromelie","Isolierter angeborener Oberschenkeldefekt","Isolierter kongenitaler kurzer Femur"],"definition":"Der Kongenital kurze Femur ist eine seltene Fehlbildung mit unterschiedlichen Schweregraden, die von leichter Hypoplasie bis zu vollständigem Fehlen des Femur reichen."},"es":{"name":"Agenesia/hipoplasia femoral aislada","synonyms":["Deficiencia femoral congénita aislada","Fémur corto congénito aislado","Meromelia intercalar femoral aislada"],"definition":"El fémur corto congénito es una malformación poco frecuente de gravedad variable que va desde una leve hipoplasia a la ausencia completa del fémur."},"it":{"name":"Agenesia/ipoplasia isolata del femore","synonyms":["Accorciamento isolato congenito del femore","CFD","CSF","Deficit isolato congenito del femore","Femore corto congenito","Meromelia intercalare femorale","Meromelia intercalare isolata del femore"],"definition":"Il femore corto congenito è una malformazione rara, di gravità variabile, dall'ipoplasia lieve all'assenza completa del femore."},"nl":{"name":"Geïsoleerde agenesie/hypoplasie van femur","synonyms":["CFD","CSF","Geïsoleerde congenitale femorale deficiëntie","Geïsoleerde congenitale korte femur","Geïsoleerde femorale agenesie/hypoplasie","Geïsoleerde femorale intercalaire meromelie"],"definition":"Een zeldzame malformatie, gekenmerkt door variabele gradaties van ernst gaande van milde hypoplasie tot volledige afwezigheid van femur."},"pt":{"name":"Agenesia/hipoplasia femural isolada","synonyms":["CFD","CSF","Deficiência femoral isolada congénita","Fémur curto isolado congénito","Meromelia femoral intercalar isolada"]},"pl":{"name":"Agnezja/hipoplazja kości udowej","synonyms":["Meromelia kości udowej","Wrodzone skrócenie kości udowej","Izolowana agenezja/hipoplazja kości udowej"]},"cs":{"name":"Femorální ageneze/hypoplázie","synonyms":["Vrozené zkrácení femuru","Femorální interkalární meromelie"]},"uk":{"name":"Ізольована агенезія/гіпоплазія стегнової кістки","synonyms":["CFD","CSF","Ізольована вроджена вада стегнової кістки","Ізольована вроджена коротка стегнова кістка","Ізольована стегнова інтеркалярна меромелія"],"definition":"Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur."},"zh":{"name":"股骨缺如/发育不全","synonyms":["股骨中间残肢"]},"tr":{"name":"Femoral agenez / hipoplazi","synonyms":["Doğumsal kısa femur","Femoral interkalar meromeli"]}},"xrefs":[{"source":"ICD-10","code":"Q72.4","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB9A.8","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"662157487"},{"source":"MONDO","code":"0016032","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5889736","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1503","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":295065,"name":"OBSOLETE: Femoral agenesis/hypoplasia, unilateral","status":"inactive"},{"type":"Referred to","orpha":295067,"name":"OBSOLETE: Femoral agenesis/hypoplasia, bilateral","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294927,"name":"Non-syndromic intercalary limb defects","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.6,"area":"Worldwide","status":"Validated","source":"26408260[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.6,"area":"Worldwide","status":"Validated","source":"26408260[PMID]_ORPHANET"}],"phenotypes":null}