{"orpha":139436,"name":"Multicentric reticulohistiocytosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Giant cell histiocytomatosis","Lipoid dermatoarthritis"],"definition":"A rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-139436/","orphanet_url":"https://www.orpha.net/en/disease/detail/139436","names":{"fr":{"name":"Réticulohistiocytose multicentrique","synonyms":["Dermatoarthrite lipoïdique","Hystiocytomatose à cellules géantes"],"definition":"La réticulohistiocytose multicentrique (RHM) est une histiocytose non-langerhansienne rare caractérisée par l'association de lésions nodulaires cutanées caractéristiques avec une arthrite destructive."},"de":{"name":"Retikulohistiozytose, multizentrische","synonyms":["Lipoiddermatoarthritis"],"definition":"Die Multizentrische Retikulohistiozytose (MRH) ist eine seltene Nicht-Langerhans-Zell-Histiozytose mit charakteristischen nodulären Hautläsionen und destruktiver Arthritis."},"es":{"name":"Reticulohistiocitosis multicéntrica","synonyms":["Dermoartritis lipoidea"],"definition":"Es una histiocitosis poco frecuente de células no-Langerhans caracterizada por la asociación de lesiones cutáneas nodulares específicas y artritis destructiva."},"it":{"name":"Reticoloistiocitosi multicentrica","synonyms":["Dermatoartrite lipoide"]},"nl":{"name":"Multicentrische reticulohistiocytose","synonyms":["Lipoïde dermatoartritis","Reuscelhistiocytomatose"],"definition":"Een zeldzame niet-Langerhanscelhistiocytose, gekenmerkt door de associatie van specifieke nodulaire laesies van huid en destructieve artritis."},"pt":{"name":"Reticulohistiocitose multicêntrica","definition":"A reticulohistiocitose multicêntrica (MRH) é uma histiocitose rara de células não-Langerhans caracterizada pela associação de lesões cutâneas nodulares específicas e artrite destrutiva."},"pl":{"name":"Retikulohistiocytoza wieloogniskowa","synonyms":["Histiocytomatoza wielokomórkowa","Lipoidowe zapalenie skórno-stawowe"]},"cs":{"name":"Multicentrická retikulohistiocytóza","synonyms":["Dermatoarthritis lipoidica","MR","Obrovskobuněčná histiocytomatóza"]},"uk":{"name":"Мультицентричний ретикулогістіоцитоз","synonyms":["Гігантоклітинний гістіоцитоматоз","Ліпоїдний дерматоартрит"],"definition":"A rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis."},"zh":{"name":"多中心性网状组织细胞增多症","synonyms":["巨细胞性组织细胞瘤"],"definition":"一种罕见的非朗格汉斯细胞组织细胞增多症，其特征与特殊结节性皮肤病损和破坏性关节炎相关。"},"tr":{"name":"Çok merkezli retikülohistiyositoz","synonyms":["Lipoid dermatoartrit","Dev hücreli histiyositomatoz"]}},"xrefs":[{"source":"ICD-10","code":"D76.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EE8Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"977116795"},{"source":"MONDO","code":"0015347","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0311284","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7103","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10070595","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":157987,"name":"Non-Langerhans cell histiocytosis","classifications":[187,196]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":200.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001369","label":"Arthritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100727","label":"Histiocytosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200036","label":"Skin nodule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null}]}}