{"orpha":48918,"name":"Focal myositis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Focal nodular myositis","Inflammatory pseudotumor of skeletal muscle"],"definition":"A rare idiopathic inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-48918/","orphanet_url":"https://www.orpha.net/en/disease/detail/48918","names":{"fr":{"name":"Myosite focale","synonyms":["Myosite focale nodulaire","Pseudotumeur inflammatoire des muscles squelettiques"],"definition":"Myopathie inflammatoire idiopathique rare caractérisée par une tuméfaction du muscle squelettique généralement localisée sur les membres inférieurs."},"de":{"name":"Myositis, fokale","synonyms":["Inflammatorischer Pseudotumor der Skelettmuskulatur","Myositis, fokale noduläre"],"definition":"Eine seltene idiopathische entzündliche Myopathie, die durch eine örtlich begrenzte Schwellung der Skelettmuskulatur gekennzeichnet ist, die in der Regel in den unteren Extremitäten auftritt."},"es":{"name":"Miositis focal","synonyms":["Miositis focal nodular","Pseudotumor inflamatorio del músculo esquelético"],"definition":"Es una miopatía inflamatoria idiopática poco frecuente caracterizada por una inflamación localizada del músculo esquelético, por lo general, en las extremidades inferiores."},"it":{"name":"Miosite focale","synonyms":["Miosite nodulare focale","Pseudotumore infiammatorio del muscolo scheletrico"],"definition":"Si tratta di una miopatia infiammatoria idiopatica rara, caratterizzata da un gonfiore localizzato di un muscolo scheletrico, che di solito interessa gli arti inferiori."},"nl":{"name":"Focale myositis","synonyms":["Focale nodulaire myositis","Inflammatoire pseudotumor van skeletspier"],"definition":"Een zeldzame, idiopathische inflammatoire myopathie, gekarakteriseerd door een gelokaliseerde zwelling van skeletspier, doorgaans gesitueerd in de onderste ledematen."},"pt":{"name":"Miosite focal"},"pl":{"name":"Ogniskowe zapalenie mięśni","synonyms":["Ogniskowe guzkowe zapalenie mięśni","Zapalny pseudoguz mięśnia szkieletowego"]},"cs":{"name":"Fokální myozitida","synonyms":["Fokální nodulární myozitida","Zánětlivý pseudonádor kosterního svalstva"]},"uk":{"name":"Фокальний міозит","synonyms":["Вогнищевий вузликовий міозит","Запальна псевдопухлина скелетних мязів"],"definition":"A rare idiopathic inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities."},"zh":{"name":"局灶性肌炎","synonyms":["骨骼肌炎性假瘤"]},"tr":{"name":"Odak miyozit","synonyms":["Fokal nodüler miyozit","İskelet kasının inflamatuar psödotümörü"]}},"xrefs":[{"source":"ICD-10","code":"M60.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A41.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"708931518"},{"source":"MONDO","code":"0018845","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751357","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081943","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98482,"name":"Idiopathic inflammatory myopathy","classifications":[181,196]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":115.0,"area":"Worldwide","status":"Validated","source":"15546587[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","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:0100614","label":"Myositis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null}]}}