{"orpha":294983,"name":"Isolated acheiria","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated congenital absence of hand"],"definition":"A rare non-syndromic limb reduction defect characterized by the congenital total absence of the hand and wrist with no bony elements distal to the radius or ulna. The malformation can be unilateral or bilateral.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-294983/","orphanet_url":"https://www.orpha.net/en/disease/detail/294983","names":{"fr":{"name":"Acheirie isolée","synonyms":["Absence isolée congénitale de mains","Achirie isolée"],"definition":"Anomalie réductionnelle des membres non syndromique rare, caractérisée par l'absence complète congénitale de la main et du poignet sans élément osseux en position distale par rapport au radius ou à l'ulna. La malformation peut être unilatérale ou bilatérale."},"de":{"name":"Acheirie, isolierte","synonyms":["Isoliertes angeborenes Fehlen der Hand"],"definition":"Ein seltener nicht-syndromaler Gliedmaßenrepositionsdefekt, der durch das angeborene völlige Fehlen der Hand und des Handgelenks ohne knöcherne Elemente distal der Speiche oder Elle gekennzeichnet ist. Die Fehlbildung kann unilateral oder bilateral sein."},"es":{"name":"Aquiria aislada","synonyms":["Ausencia congénita aislada de la mano"],"definition":"Es un defecto de reducción de las extremidades congénito, no sindrómico y poco frecuente, caracterizado por la ausencia total de la mano y la muñeca, sin elementos óseos distales al radio o al cúbito. La malformación puede ser uni- o bilateral."},"it":{"name":"Acheiria isolata","synonyms":["Assenza isolata delle mani"],"definition":"Si tratta di un difetto raro non sindromico in riduzione degli arti, caratterizzato dall'aplasia congenita della mano e del polso, in assenza delle ossa distali al radio o all'ulna. La malformazione può essere monolaterale o bilaterale."},"nl":{"name":"Geïsoleerde acheirie","synonyms":["Geïsoleerde congenitale afwezigheid van hand"],"definition":"Een zeldzaam, niet-syndromaal ledemaatreductiedefect, gekarakteriseerd door congenitale volledige afwezigheid van hand en pols zonder enige benige elementen distaal van spaakbeen of ellepijp. De malformatie kan unilateraal of bilateraal zijn."},"pt":{"name":"Aqueiria isolada","synonyms":["Ausência da mão isolada congénita"]},"pl":{"name":"Izolowany brak dloni","synonyms":["Wrodzony brak dłoni"]},"cs":{"name":"Acheirie","synonyms":["Vrozené chybění ruky"]},"uk":{"name":"Ізольована ахейрія","synonyms":["Ізольована вроджена відсутність руки"],"definition":"A rare non-syndromic limb reduction defect characterized by the congenital total absence of the hand and wrist with no bony elements distal to the radius or ulna. The malformation can be unilateral or bilateral."},"zh":{"name":"手部缺失畸形","synonyms":["先天性手缺如"],"definition":"一种罕见的非综合征性肢体复位缺陷，其特征是先天性手部和腕部完全缺如，桡骨或尺骨远端无骨质成分。畸形可为单侧或双侧。"},"tr":{"name":"Akeyri","synonyms":["Doğumsal el yokluğu"]}},"xrefs":[{"source":"ICD-10","code":"Q71.3","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB99.6","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1428065029"},{"source":"MONDO","code":"0017445","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925026","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":295101,"name":"OBSOLETE: Acheiria, unilateral","status":"inactive"},{"type":"Referred to","orpha":295103,"name":"OBSOLETE: Acheiria, 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}