{"orpha":314701,"name":"Primary systemic amyloidosis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Systemic AL amyloidosis"],"definition":null,"note":"This disease is described under AL amyloidosis","url":"https://raremap.alftech.space/d/ORPHA-314701/","orphanet_url":"https://www.orpha.net/en/disease/detail/314701","names":{"fr":{"name":"Amylose primitive systémique","synonyms":["Amylose AL systémique"]},"de":{"name":"Amyloidose, primäre systemische","synonyms":["AL-Amyloidose, systemische"]},"es":{"name":"Amiloidosis sistémica primaria","synonyms":["Amiloidosis AL sistémica"]},"it":{"name":"Amiloidosi sistemica primitiva","synonyms":["Amiloidosi AL sistemica"]},"nl":{"name":"Primaire systemische amyloïdose","synonyms":["Systemische AL-amyloïdose"]},"pt":{"name":"Amiloidose sistémica primária","synonyms":["Amiloidose AL sistémica","Amiloidose imunoglobulinica sistémica"]},"pl":{"name":"Pierwotna amyloidoza układowa","synonyms":["Układowa amyloidoza AL","Układowa amyloidoza immunoglobulinowa"]},"cs":{"name":"Primární systémová amyloidóza","synonyms":["Systémová AL amyloidóza"]},"uk":{"name":"Первинний системний амілоїдоз","synonyms":["Системний AL-амілоїдоз"]},"zh":{"name":"原发性系统性淀粉样变","synonyms":["系统性AL淀粉样变"],"definition":"原发性全身性淀粉样变性（PSA）是一种轻链淀粉样变性（见本术语），是由不溶性淀粉样纤维聚集和沉积引起的，这些淀粉样纤维来源于错误折叠的单克隆免疫球蛋白轻链，通常由浆细胞瘤（见本术语）产生，其特征是多器官受累。"},"tr":{"name":"Primer sistemik amiloidoz","synonyms":["Sistemik AL amiloidoz"]}},"xrefs":[{"source":"OMIM","code":"254500","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E85.0","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"E85.1","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"E85.2","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"E85.3","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"MONDO","code":"0017816","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0281479","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":85443,"name":"AL amyloidosis","classifications":[146,181,188,194,196,202,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":30.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2003[OTHER]"}],"phenotypes":null}