{"orpha":294986,"name":"Isolated apodia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated congenital absence of foot"],"definition":"A rare non-syndromic limb reduction defect characterized by congenital total absence of the foot and ankle with no bony elements distal to the tibia or fibula, while the lower leg, including the epiphysis of the tibia and fibula, is present. The malformation can be unilateral or bilateral.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-294986/","orphanet_url":"https://www.orpha.net/en/disease/detail/294986","names":{"fr":{"name":"Apodie isolée","synonyms":["Absence isolée congénitale de pied"],"definition":"Anomalie réductionnelle des membres non syndromique rare, caractérisée par l'absence congénitale complète du pied et de la cheville, sans élément osseux en position distale par rapport au tibia ou au péroné, alors que la partie inférieure de la jambe (dont l'épiphyse du tibia et du péroné) est présente. La malformation peut être unilatérale ou bilatérale."},"de":{"name":"Apodie, isolierte","synonyms":["Isoliertes angeborenes Fehlen des Fußes"],"definition":"Ein seltener nicht-syndromaler Gliedmaßen-Reduktionsdefekt, der durch ein angeborenes vollständiges Fehlen des Fußes und des Knöchels ohne knöcherne Elemente distal des Schien- oder Wadenbeins gekennzeichnet ist, während der Unterschenkel (einschließlich der Epiphyse des Schien- und Wadenbeins) vorhanden ist. Die Fehlbildung kann ein- oder beidseitig sein."},"es":{"name":"Apodia aislada","synonyms":["Ausencia congénita aislada del pie"],"definition":"Es un defecto congénito no sindrómico poco frecuente de reducción de las extremidades caracterizado por la ausencia total del pie y del tobillo sin elementos óseos distales a la tibia o al peroné, mientras que la parte inferior de la pierna está presente, incluyendo la epífisis de la tibia y del peroné. La malformación puede ser uni- o bilateral."},"it":{"name":"Apodia isolata","synonyms":["Assenza isolata dei piedi"],"definition":"Si tratta di un difetto non sindromico raro in riduzione degli arti, caratterizzato dall'aplasia congenita del piede e della caviglia, dall'assenza delle ossa distali alla tibia o al perone, in presenza della porzione inferiore della gamba, comprese le epifisi della tibia e del perone. La malformazione può essere monolaterale o bilaterale."},"nl":{"name":"Geïsoleerde apodie","synonyms":["Geïsoleerde congenitale afwezigheid van voet"],"definition":"Een zeldzaam, niet-syndromaal ledemaatreductiedefect, gekarakteriseerd door congenitale volledige afwezigheid van voet en enkel zonder enige benige elementen distaal van scheenbeen of kuitbeen, terwijl het onderbeen, inclusief de epifyse van scheenbeen en kuitbeen, aanwezig is. De malformatie kan unilateraal of bilateraal zijn."},"pt":{"name":"Apodia isolada","synonyms":["Ausência do pé isolada congénita"]},"pl":{"name":"Izolowany brak stóp","synonyms":["Brak stóp"]},"cs":{"name":"Apodie","synonyms":["Vrozené chybění nohy"]},"uk":{"name":"Ізольована аподія","synonyms":["Ізольована вроджена відсутність стопи"],"definition":"A rare non-syndromic limb reduction defect characterized by congenital total absence of the foot and ankle with no bony elements distal to the tibia or fibula, while the lower leg, including the epiphysis of the tibia and fibula, is present. The malformation can be unilateral or bilateral."},"zh":{"name":"足部缺失畸形","synonyms":["先天性足缺如"],"definition":"一种罕见的非综合征性肢体复位缺损，其特征是先天性足踝完全缺如，胫骨或腓骨远端无骨质成分，同时小腿，包括胫骨和腓骨骨骺存在。畸形可为单侧或双侧。"},"tr":{"name":"Apodi","synonyms":["Doğumsal ayak yokluğu"]}},"xrefs":[{"source":"ICD-10","code":"Q72.3","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB9A.4","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1419324219"},{"source":"MONDO","code":"0017446","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925023","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":295105,"name":"OBSOLETE: Apodia, unilateral","status":"inactive"},{"type":"Referred to","orpha":295107,"name":"OBSOLETE: Apodia, bilateral","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":498461,"name":"Non-syndromic terminal transverse limb defect","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}