{"orpha":77240,"name":"Primary lymphedema","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"Primary lymphedema is a lymphatic system malformation characterized by swelling of an extremity that can be associated with other lymphatic effusions, due to an underlying developmental anomaly of the lymphatic system (abnormal lymphangiogenesis). It can be hereditary or not and be congenital or late onset.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-77240/","orphanet_url":"https://www.orpha.net/en/disease/detail/77240","names":{"fr":{"name":"Lymphoedème primaire","definition":"Malformation du système lymphatique caractérisée par le gonflement d'un membre pouvant être associé à d'autres épanchements lymphatiques, en raison d'une anomalie sous-jacente de développement du système lymphatique (lymphangiogenèse anormale). Il peut être héréditaire ou non, congénital ou d'apparition tardive."},"de":{"name":"Primäres Lymphödem","definition":"Das primäre Lymphödem ist eine Fehlbildung des lymphatischen Systems, die durch eine Schwellung einer Extremität gekennzeichnet ist, die mit anderen Lymphergüssen einhergehen kann und auf eine zugrundeliegende Entwicklungsanomalie des lymphatischen Systems (abnorme Lymphoangiogenese) zurückzuführen ist. Sie kann erblich oder nicht erblich sein und angeboren oder spät auftreten."},"es":{"name":"Linfedema primario","definition":"El linfedema primario es una malformación del sistema linfático que se caracteriza por la hinchazón de una extremidad que puede asociarse a otros derrames linfáticos, debido a una anomalía subyacente del desarrollo del sistema linfático (linfoangiogénesis anómala). Puede ser hereditaria o no, y ser congénita o de aparición tardía."},"it":{"name":"Linfedema primitivo","synonyms":["Malformazione linfatica tronculare"]},"nl":{"name":"Primair lymfoedeem","definition":"Een malformatie van lymfestelsel, gekarakteriseerd door zwelling van een ledemaat die kan geassocieerd zijn met andere effusies van lymfe, als gevolg van een onderliggende ontwikkelingsanomalie van lymfatisch systeem (abnormale lymfangiogenese). De aandoening kan al dan niet erfelijk zijn, en met congenitale of late aanvang."},"pt":{"name":"Linfedema primário"},"pl":{"name":"Pierwotny obrzęk limfatyczny","synonyms":["Troncular lymphatic malformation"]},"cs":{"name":"Primární lymfedém","synonyms":["Tronkulární lymfatická malformace"]},"uk":{"name":"Первинна лімфедема","definition":"Primary lymphedema is a lymphatic system malformation characterized by swelling of an extremity that can be associated with other lymphatic effusions, due to an underlying developmental anomaly of the lymphatic system (abnormal lymphoangiogenesis). It can be hereditary or not and be congenital or late onset."},"zh":{"name":"原发性淋巴水肿"},"tr":{"name":"Primer lenfödem"}},"xrefs":[{"source":"ICD-11","code":"BD93.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"794588197"},{"source":"MONDO","code":"0019175","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19175","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0238261","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":79383,"name":"OBSOLETE: Lymphedema","status":"inactive"},{"type":"Referred to","orpha":86917,"name":"OBSOLETE: Lymphedema-cleft palate syndrome","status":"inactive"},{"type":"Referred to","orpha":459530,"name":"OBSOLETE: Genetic primary lymphedema","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":211240,"name":"Genetic vascular anomaly","classifications":[156]},{"orpha":68346,"name":"Rare genetic skin disease","classifications":[156]},{"orpha":89826,"name":"Rare skin disease","classifications":[187]},{"orpha":211255,"name":"Slow-flow malformation, lymphatic type","classifications":[147,198]}],"children":[{"orpha":568047,"name":"Disorder with multisystemic involvement and primary lymphedema","type":"Category"},{"orpha":568044,"name":"Primary lymphedema with systemic or visceral involvement","type":"Category"},{"orpha":568041,"name":"Primary lymphedema without systemic or visceral involvement","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":16.7,"area":"Europe","status":"Validated","source":"[EXPERT]_24212289[PMID]"}],"phenotypes":null}