{"orpha":93457,"name":"Non-syndromic limb reduction defect","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Non-syndromic limb hypoplasia"],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-93457/","orphanet_url":"https://www.orpha.net/en/disease/detail/93457","names":{"fr":{"name":"Anomalie réductionnelle des membres non syndromique"},"de":{"name":"Gliedmaßen-Reduktionsdefekt, nicht-syndromaler","synonyms":["Extremitätenhypoplasie, nicht-syndromale"]},"es":{"name":"Defecto no sindrómico de reducción de las extremidades","synonyms":["Hipoplasia no sindrómica de las extremidades"]},"it":{"name":"Difetto non sindromico da riduzione degli arti","synonyms":["Ipoplasia non sindromica degli arti"]},"nl":{"name":"Niet-syndromaal reductiedefect van ledemaat","synonyms":["Niet-syndromale hypoplasie van ledemaat"]},"pt":{"name":"Hipoplasia dos membros - defeito de redução dos membros"},"pl":{"name":"Niesyndromiczne skrócenie kończyn","synonyms":["Niesyndromiczna hipoplazja kończyn"]},"cs":{"name":"Nesyndromické redukční vady končetin","synonyms":["Nesyndromická hypoplázie končetin"]},"uk":{"name":"Несиндромальний дефект редукції кінцівок","synonyms":["Несиндромна гіпоплазія кінцівок"]},"zh":{"name":"非综合征型肢体短缩畸形","synonyms":["非综合征性肢体发育不全"]},"tr":{"name":"Sendromik olmayan ekstremite redüksiyon defekti","synonyms":["Sendromik olmayan ekstremite hipoplazisi"]}},"xrefs":[{"source":"ICD-11","code":"LB99","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"37094742"},{"source":"ICD-11","code":"LB9A","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"1989891499"},{"source":"ICD-11","code":"LB9B","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"649911082"},{"source":"MONDO","code":"0019713","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680277","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":294929,"name":"OBSOLETE: Terminal limb defects","status":"inactive"},{"type":"Referred to","orpha":294931,"name":"OBSOLETE: Adactyly of hand","status":"inactive"},{"type":"Referred to","orpha":435623,"name":"OBSOLETE: Adactyly of foot","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":404571,"name":"Dysostosis of genetic origin with limb anomaly as a major feature","classifications":[156]},{"orpha":364568,"name":"Dysostosis with limb anomaly as a major feature","classifications":[147,199]},{"orpha":109011,"name":"Non-syndromic limb malformation","classifications":[147,156]}],"children":[{"orpha":294927,"name":"Non-syndromic intercalary limb defects","type":"Clinical group"},{"orpha":498457,"name":"Non-syndromic longitudinal limb defect","type":"Category"},{"orpha":498461,"name":"Non-syndromic terminal transverse limb defect","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}