{"orpha":98848,"name":"Indolent systemic mastocytosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, usually benign, chronic, form of systemic mastocytosis (SM) characterized by an abnormal accumulation of neoplastic mast cells (MCs) mainly in the bone marrow (BM) but also in other organs or tissues such as preferably the skin.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98848/","orphanet_url":"https://www.orpha.net/en/disease/detail/98848","names":{"fr":{"name":"Mastocytose systémique indolente","definition":"Forme rare, généralement bénigne et chronique de mastocytose systémique (SM) caractérisée par une accumulation anormale de mastocytes (MC) néoplasiques, principalement dans la moelle osseuse, mais aussi dans d'autres organes ou tissus, de préférence dans la peau."},"de":{"name":"Indolente systemische Mastozytose","definition":"Eine chronische, in der Regel gutartige Form der systemischen Mastozytose (SM), die durch eine abnorme Anhäufung von neoplastischen Mastzellen (MCs) hauptsächlich im Knochenmark, aber auch in anderen Organen oder Geweben wie vorzugsweise der Haut gekennzeichnet ist."},"es":{"name":"Mastocitosis sistémica indolente","definition":"Es una forma crónica de mastocitosis sistémica (MS), típicamente benigna y poco frecuente, caracterizada por un acúmulo anómalo de mastocitos neoplásicos, principalmente en la médula ósea (MO) aunque también en otros órganos o tejidos, preferentemente en la piel."},"it":{"name":"Mastocitosi sistemica indolente","definition":"La mastocitosi sistemica indolente (ISM) è una forma cronica rara, di solito benigna, di mastocitosi sistemica (SM), caratterizzata da un accumulo anomalo di mastociti (MC) neoplastici soprattutto nel midollo osseo, ma anche in altri organi e tessuti (in particolare la cute)."},"nl":{"name":"Indolente systemische mastocytose","definition":"Een zeldzame, doorgaans goedaardige, chronische vorm van systemische mastocytose (SM), gekenmerkt door abnormale accumulatie van neoplastische mestcellen (MC's), vooral in beenmerg (BM) maar ook in andere organen of weefsels zoals veelal huid."},"pt":{"name":"Mastocitose sistémica indolente","definition":"Forma rara, geralmente benigna e crónica de mastocitose sistémica (MS), caracterizada por uma acumulação anómala de mastócitos neoplásicos (MCs), principalmente na medula óssea (MO), mas também noutros órgãos ou tecidos, como preferencialmente a pele."},"pl":{"name":"Mastocytoza układowa o powolnym przebiegu"},"cs":{"name":"Indolentní systémová mastocytóza"},"uk":{"name":"Мявий системний мастоцитоз","definition":"A rare, usually benign, chronic, form of systemic mastocytosis (SM) characterized by an abnormal accumulation of neoplastic mast cells (MCs) mainly in the bone marrow (BM) but also in other organs or tissues such as preferably the skin."},"zh":{"name":"惰性系统性肥大细胞增多症","definition":"该病是一种罕见、通常良性的慢性全身性肥大细胞增多症，其特征是新生性肥大细胞(MC)异常聚集，主要分布在骨髓(BM)，但也存在于其他器官或组织，如皮肤。"},"tr":{"name":"Ağrısız sistemik mastositoz"}},"xrefs":[{"source":"ICD-10","code":"D47.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A21.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"353283231"},{"source":"ICD-11","code":"XH2Y59","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"970496059"},{"source":"MONDO","code":"0020331","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0272203","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10056452","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":2467,"name":"Systemic mastocytosis","classifications":[194,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-06-14","source":"31985050[PMID]_32108361[PMID]_30536695[PMID]","terms":[{"hpo":"HP:0100494","label":"Abnormal mast cell morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011121","label":"Abnormal skin morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005561","label":"Abnormality of bone marrow cell morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031408","label":"Increased proportion of CD25+ mast cells","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100495","label":"Mastocytosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032155","label":"Abdominal cramps","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012393","label":"Allergy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025081","label":"Darier's sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031284","label":"Flushing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011354","label":"Generalized abnormality of skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031901","label":"Increased serum mast cell beta-tryptase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040186","label":"Maculopapular exanthema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001025","label":"Urticaria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100845","label":"Anaphylactic shock","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004377","label":"Hematological neoplasm","frequency":"Excluded (0%)","criteria":null}]}}