{"orpha":2130,"name":"Non-syndromic hemimelia","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Non-syndromic longitudinal meromelia"],"definition":"Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia. Hemimelia ranges in severity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2130/","orphanet_url":"https://www.orpha.net/en/disease/detail/2130","names":{"fr":{"name":"Hémimélie non syndromique","synonyms":["Méromélie longitudinale non syndromique"],"definition":"Malformation des membres caractérisée par une aplasie ou une hypoplasie de la partie distale d'un ou de plusieurs membres. La maladie est désignée selon l'os de la partie distale du bras ou de la jambe touché par l'anomalie. On distingue ainsi l'hémimélie fibulaire, radiale, tibiale ou ulnaire. La sévérité de l'hémimélie est variable."},"de":{"name":"Hemimelie, nicht-syndromale","synonyms":["Meromelie, longitudinale, nicht-syndromale"]},"es":{"name":"Hemimelia no sindrómica","synonyms":["Meromelia longitudinal no sindrómica"],"definition":"Es una malformación de las extremidades caracterizada por la ausencia o el acortamiento notable de la parte inferior de una o más extremidades. La afección se designa según la ausencia o el defecto del hueso del brazo o de la pierna distales e incluye hemimelia del peroné, radial, tibial o cubital. La hemimelia varía en gravedad."},"it":{"name":"Emimelia non sindromica","synonyms":["Meromelia longitudinale non sindromica"]},"nl":{"name":"Niet-syndromale hemimelie","synonyms":["Niet-syndromale longitudinale meromelie"],"definition":"Hemimelie is een misvorming van de ledematen die wordt gekarakteriseerd door de afwezigheid of forse inkorting van het onderste deel van één of meer ledematen. De ziekte wordt aangeduid volgens welk bot van de distale arm of van het distaal been afwezig of gebrekkig is, en omvat fibulaire, radiale, tibiale, en ulnaire hemimelie (zie deze termen). De ernst van hemimelie varieert."},"pt":{"name":"Hemimelia não-sindrómica","synonyms":["Meromelia longitudinal não-sindrómica"]},"pl":{"name":"Hemimelia","synonyms":["Meromelia podłużna","Niesyndromiczna hemimelia"]},"cs":{"name":"Hemimélie","synonyms":["Longitudinální meromélie"]},"uk":{"name":"Несиндромальна гемімелія","synonyms":["Несиндромна поздовжня меромелія"],"definition":"Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity."},"zh":{"name":"半肢畸形","synonyms":["纵向残肢"]},"tr":{"name":"Hemimeli","synonyms":["Boyuna meromeli"]}},"xrefs":[{"source":"MONDO","code":"0016240","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16240","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925000","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10019464","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":498457,"name":"Non-syndromic longitudinal limb defect","classifications":[147,156,199]}],"children":[{"orpha":93323,"name":"Isolated fibular hemimelia","type":"Morphological anomaly"},{"orpha":93321,"name":"Isolated radial hemimelia","type":"Morphological anomaly"},{"orpha":93322,"name":"Isolated tibial hemimelia","type":"Morphological anomaly"},{"orpha":93320,"name":"Isolated ulnar hemimelia","type":"Morphological anomaly"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.15,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}