{"orpha":294967,"name":"Isolated amelia of upper limb","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated congenital absence of upper limb"],"definition":"A rare, non-syndromic limb reduction defect characterized by complete or near-complete congenital absence of one (unilateral) or both (bilateral) of the upper extremities, occurring due to an intrauterine insult during the very early stages of embryonic development. It may be an isolated anomaly, but is more commonly observed in combination with multiple other congenital malformations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-294967/","orphanet_url":"https://www.orpha.net/en/disease/detail/294967","names":{"fr":{"name":"Amélie isolée des membres supérieurs","synonyms":["Agénésie isolée congénitale des membres supérieurs"],"definition":"Anomalie réductionnelle des membres non syndromique rare, caractérisée par l'absence congénitale complète ou quasi-complète de l'un (unilatérale) ou des deux (bilatérale) membres supérieurs, due à une agression intra-utérine à un stade très précoce du développement embryonnaire. Cette anomalie peut être isolée, mais elle est plus fréquemment observée en association avec de multiples autres malformations congénitales."},"de":{"name":"Isolierte Amelie der oberen Extremitäten","synonyms":["Isoliertes angeborenes Fehlen der oberen Gliedmaßen"],"definition":"Ein seltener, nicht-syndromaler Gliedmaßen-Reduktionsdefekt, der durch vollständiges oder nahezu vollständiges angeborenes Fehlen der oberen Extremitäten (unilateral oder bilateral) gekennzeichnet ist und durch einen intrauterinen Insult in den sehr frühen Stadien der Embryonalentwicklung auftritt. Es kann sich um eine isolierte Anomalie handeln, wird aber häufiger in Kombination mit mehreren anderen angeborenen Fehlbildungen beobachtet."},"es":{"name":"Amelia aislada de las extremidades superiores","synonyms":["Ausencia congénita aislada de las extremidades superiores"],"definition":"Es un defecto no sindrómico poco frecuente por reducción de las extremidades caracterizado por la ausencia congénita completa o casi completa de una (unilateral) o ambas (bilateral) de las extremidades superiores, causada por un fallo intrauterino durante las primeras etapas del desarrollo embrionario. Puede tratarse de una anomalía aislada, aunque se observa con mayor frecuencia asociada a otras malformaciones congénitas múltiples."},"it":{"name":"Amelia degli arti superiori isolata","synonyms":["Assenza congenita isolata degli arti superiori"],"definition":"È un difetto non sindromico raro da riduzione degli arti, caratterizzato dall'aplasia congenita completa o pressoché completa di uno (monolaterale) o entrambi (bilaterale) gli arti superiori, secondaria a un danno durante le prime fasi di sviluppo dell'embrione. Può essere isolata, ma spesso si associa ad altre malformazioni congenite multiple."},"nl":{"name":"Geïsoleerde amelie van bovenste ledemaat","synonyms":["Geïsoleerde congenitale afwezigheid van bovenste ledemaat"],"definition":"Een zeldzaam, niet-syndromaal ledemaatreductiedefect dat gekarakteriseerd wordt door volledige of bijna volledige, congenitale afwezigheid van één (unilateraal) of beide (bilateraal) bovenste ledematen als gevolg van een intra-uterien defect tijdens de zeer vroege stadia van de embryonale ontwikkeling. Het kan voorkomen als een geïsoleerde anomalie, maar wordt vaker waargenomen in combinatie met meerdere andere congenitale malformaties."},"pt":{"name":"Amelia do membro superior isolada","synonyms":["Ausência congénita do membro superior isolada"]},"pl":{"name":"Izolowany brak kończyny górnej","synonyms":["Isolated congenital absence of upper limb"]},"cs":{"name":"Amelie horní končetiny","synonyms":["Isolated congenital absence of upper limb"]},"uk":{"name":"Ізольована амелія верхньої кінцівки","synonyms":["Ізольована вроджена відсутність верхньої кінцівки"],"definition":"A rare, non-syndromic limb reduction defect characterized by complete or near-complete congenital absence of one (unilateral) or both (bilateral) of the upper extremities, occurring due to an intrauterine insult during the very early stages of embryonic development. It may be an isolated anomaly, but is more commonly observed in combination with multiple other congenital malformations."},"zh":{"name":"上肢残缺","definition":"一种罕见的非综合征性肢体复位缺陷，其特征胚胎发育早期宫内侵害导致先天性一条（单侧）或两条（双侧）上肢完全或接近完全缺如。它可能是一个孤立的异常，但更常见的是与其他多种先天性畸形合并。"},"tr":{"name":"Üst ekstremite amelisi"}},"xrefs":[{"source":"ICD-10","code":"Q71.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB99.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"565435388"},{"source":"MONDO","code":"0017437","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925029","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":295053,"name":"OBSOLETE: Amelia of upper limb, unilateral","status":"inactive"},{"type":"Referred to","orpha":295055,"name":"OBSOLETE: Amelia of upper limb, bilateral","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294925,"name":"Non-syndromic amelia","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}