{"orpha":220407,"name":"Limited systemic sclerosis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Systemic sclerosis sine scleroderma"],"definition":"Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc) characterized by organ involvement in the absence of fibrosis of the skin.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-220407/","orphanet_url":"https://www.orpha.net/en/disease/detail/220407","names":{"fr":{"name":"Sclérose systémique limitée","synonyms":["Sclérodermie systémique sans sclérose cutanée","Sclérose systémique sans sclérodermie"],"definition":"La sclérose systémique limitée (ScSl) (ou sclérose systémique sans sclérodermie) est une forme de sclérodermie systémique (ScS) caractérisée par une atteinte viscérale en absence de fibrose cutanée."},"de":{"name":"Systemische Sklerose, limitierte","synonyms":["Systemische Sklerose ohne Sklerodermie"],"definition":"Die limitierte systemische Sklerose (lSSc) (oder SSc ohne Sklerodermie) ist eine Untergruppe der systemischen Sklerose (SSc; s. dort) und gekennzeichnet durch Organbeteiligung ohne Fibrose der Haut."},"es":{"name":"Esclerosis sistémica limitada","synonyms":["Esclerosis sistémica sin afectación de la piel"],"definition":"La esclerosis sistémica limitada (lSSc; por sus siglas en inglés) (o SSc sin esclerodermia) es una forma de la esclerosis sistémica (SSc, consulte este término), caracterizada por la afectación de órganos con ausencia de fibrosis cutánea."},"it":{"name":"Sclerosi sistemica limitata","synonyms":["Sclerosi sistemica senza sclerodermia"],"definition":"La sclerosi sistemica limitata (ScSl o sclerosi sistemica senza sclerodermia) è una forma di sclerosi sistemica (SSc; si veda questo termine), caratterizzata dal coinvolgimento degli organi interni, in assenza di fibrosi cutanea."},"nl":{"name":"Gelimiteerde systemische sclerose","synonyms":["Systemische sclerose zonder sclerodermie"],"definition":"Gelimiteerde systemische sclerose (lSSc) (of SSc sine sclerodermie) is een subgroep van systemische sclerose (SSc), gekenmerkt door betrokkenheid van organen in afwezigheid van fibrose van huid."},"pt":{"name":"Esclerose sistémica limitada","definition":"A esclerose sistémica limitada (lSSc) (ou SSc sem escleroderma) é um subtipo de esclerose sistémica (SSc; ver este termo), caracterizada pelo envolvimento de órgãos na ausência de fibrose da pele."},"pl":{"name":"Twardzina układowa ograniczona","synonyms":["Systemic sclerosis sine scleroderma Uogólnione stwardnienie bez twardziny"]},"cs":{"name":"Limitovaná systémová skleróza","synonyms":["Systémová sklerodermie sine sclerodermia"]},"uk":{"name":"Обмежений системний склероз","synonyms":["Системний склероз синусоїдальна склеродермія"],"definition":"Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc; see this term) characterized by organ involvement in the absence of fibrosis of the skin."},"zh":{"name":"局限性系统性硬化病","synonyms":["系统性硬化病"],"definition":"局限性系统性硬化症（lSSc）（或SSc sine scleroderma）是系统性硬化症（SSc；见该词条）的一个亚集，其特征是在没有皮肤纤维化的情况下出现器官受累。"},"tr":{"name":"Sınırlı sistemik skleroz","synonyms":["Sistemik skleroz sinüs skleroderması"]}},"xrefs":[{"source":"ICD-10","code":"M34.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A42.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"187455179"},{"source":"MONDO","code":"0016359","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0748540","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9749","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":90291,"name":"Systemic sclerosis","classifications":[146,184,187,188,196,231,233]}],"children":[],"genes":[{"symbol":"HLA-DRB1","name":"major histocompatibility complex, class II, DR beta 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":null,"hgnc":"4948","ensembl":"ENSG00000196126","omim":"142857","loci":["6p21.32"]}],"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":"23661427[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}