{"orpha":2467,"name":"Systemic mastocytosis","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A heterogeneous group of rare, acquired and chronic hematological malignancies related to an abnormal accumulation/proliferation of neoplastic mast cells (MCs) in one or several organs, mainly the bone marrow (BM), associated frequently with skin involvement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2467/","orphanet_url":"https://www.orpha.net/en/disease/detail/2467","names":{"fr":{"name":"Mastocytose systémique","definition":"Groupe hétérogène d'hémopathies malignes rares, acquises et chroniques, liées à une prolifération/accumulation anormale de mastocytes (MC) néoplasiques dans un ou plusieurs organes, principalement la moelle osseuse (MO), fréquemment associées à une atteinte cutanée."},"de":{"name":"Mastozytose, systemische","definition":"Eine heterogene Gruppe seltener, erworbener und chronischer hämatologischer Malignome, die mit einer abnormalen Akkumulation/Proliferation neoplastischer Mastzellen (MCs) in einem oder mehreren Organen, hauptsächlich dem Knochenmark (KM), einhergehen und häufig mit einer Hautbeteiligung verbunden sind."},"es":{"name":"Mastocitosis sistémica","synonyms":["Síndrome de activación mastocitaria"],"definition":"Es un grupo heterogéneo de neoplasias hematológicas malignas poco frecuentes, adquiridas y crónicas asociadas a un acúmulo/ proliferación anómala de células neoplásicas mastocitoides en uno o varios órganos, principalmente en la médula ósea (MO), asociada frecuentemente a afectación cutánea."},"it":{"name":"Mastocitosi sistemica","synonyms":["Malattia dei mastociti"],"definition":"Comprende un gruppo eterogeneo di tumori maligni ematologici rari, acquisiti e cronici, correlati all'accumulo/proliferazione anomala di mastociti neoplastici (MC) in uno o più organi, in particolare nel midollo osseo, spesso in presenza di un coinvolgimento cutaneo."},"nl":{"name":"Systemische mastocytose","synonyms":["Mestcelziekte"],"definition":"Een heterogene groep zeldzame, verworven en chronische hematologische maligniteiten gerelateerd aan abnormale accumulatie/proliferatie van neoplastische mestcellen (MC's) in een of meerdere organen, vooral beenmerg (BM), en frequent geassocieerd met betrokkenheid van huid."},"pt":{"name":"Mastocitose sistémica","synonyms":["Doença de mastócitos"]},"pl":{"name":"Mastocytoza układowa","synonyms":["Choroba komórek tucznych"]},"cs":{"name":"Systémová mastocytóza","synonyms":["Nemoc žírných buněk"]},"uk":{"name":"Системний мастоцитоз","definition":"A heterogeneous group of rare, acquired and chronic hematological malignancies related to an abnormal accumulation/proliferation of neoplastic mast cells (MCs) in one or several organs, mainly the bone marrow (BM), associated frequently with skin involvement."},"zh":{"name":"系统性肥大细胞增多症"},"tr":{"name":"Sistemik mastositoz"}},"xrefs":[{"source":"ICD-10","code":"C96.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"2A21.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1144812971"},{"source":"MONDO","code":"0016586","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16586","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D034721","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0221013","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8616","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10042949","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":98292,"name":"Mastocytosis","classifications":[194,202]}],"children":[{"orpha":98850,"name":"Aggressive systemic mastocytosis","type":"Disease"},{"orpha":98848,"name":"Indolent systemic mastocytosis","type":"Disease"},{"orpha":158778,"name":"Isolated bone marrow mastocytosis","type":"Disease"},{"orpha":98851,"name":"Mast cell leukemia","type":"Disease"},{"orpha":158775,"name":"Smoldering systemic mastocytosis","type":"Disease"},{"orpha":98849,"name":"Systemic mastocytosis with associated hematologic neoplasm","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Italy","status":"Validated","source":"8645532[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]_ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.9,"area":"Denmark","status":"Validated","source":"24761987[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":9.6,"area":"Denmark","status":"Validated","source":"24761987[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.6,"area":"Europe","status":"Validated","source":"24761987[PMID]_8645532[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":13.0,"area":"Netherlands","status":"Validated","source":"23219169[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":11.3,"area":"Europe","status":"Validated","source":"23219169[PMID]_24761987[PMID]"}],"phenotypes":null}