{"orpha":568047,"name":"Disorder with multisystemic involvement and primary lymphedema","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"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-568047/","orphanet_url":"https://www.orpha.net/en/disease/detail/568047","names":{"fr":{"name":"Maladie avec atteinte multisystémique et lymphoedème primaire"},"de":{"name":"Störung mit multisystemischer Beteiligung und primären Lymphödem"},"es":{"name":"Trastorno con afectación multisistémica y linfedema primario"},"it":{"name":"Malattia multisistemica e linfedema primitivo"},"nl":{"name":"Aandoening met multisystemische betrokkenheid en primair lymfoedeem"},"pt":{"name":"Doença com envolvimento multissistémico e linfedema primário"},"pl":{"name":"Zaburzenie z zajęciem wielu układów i pierwotnym obrzękiem limfatycznym"},"cs":{"name":"Porucha s multisystémovým postižením a primárním lymfedémem"},"uk":{"name":"Захворювання з мультисистемним ураженням та первинною лімфедемою"},"zh":{"name":"原发性淋巴水肿伴多系统受累"},"tr":{"name":"Multisistemik tutulum ve primer lenfödem ile seyreden bozukluk"}},"xrefs":[{"source":"UMLS","code":"C5681303","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":77240,"name":"Primary lymphedema","classifications":[147,156,187,198]}],"children":[{"orpha":1340,"name":"Cardiofaciocutaneous syndrome","type":"Malformation syndrome"},{"orpha":324,"name":"Fabry disease","type":"Disease"},{"orpha":69088,"name":"Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome","type":"Disease"},{"orpha":1655,"name":"Müllerian derivatives-lymphangiectasia-polydactyly syndrome","type":"Malformation syndrome"},{"orpha":648,"name":"Noonan syndrome","type":"Malformation syndrome"},{"orpha":2710,"name":"Oculodentodigital dysplasia","type":"Malformation syndrome"},{"orpha":2836,"name":"PEHO syndrome","type":"Disease"},{"orpha":99807,"name":"PEHO-like syndrome","type":"Disease"},{"orpha":48652,"name":"Phelan-McDermid syndrome","type":"Malformation syndrome"},{"orpha":742,"name":"Prolidase deficiency","type":"Disease"},{"orpha":487796,"name":"Takenouchi-Kosaki syndrome","type":"Malformation syndrome"},{"orpha":805,"name":"Tuberous sclerosis complex","type":"Disease"},{"orpha":881,"name":"Turner syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}