ORPHA:2467
Systemic mastocytosis
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Systemic mastocytosis | |
| fr | Mastocytose systémique | |
| de | Mastozytose, systemische | |
| es | Mastocitosis sistémica | Síndrome de activación mastocitaria |
| it | Mastocitosi sistemica | Malattia dei mastociti |
| nl | Systemische mastocytose | Mestcelziekte |
| pt | Mastocitose sistémica | Doença de mastócitos |
| pl | Mastocytoza układowa | Choroba komórek tucznych |
| cs | Systémová mastocytóza | Nemoc žírných buněk |
| uk | Системний мастоцитоз | |
| zh | 系统性肥大细胞增多症 | |
| tr | Sistemik mastositoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C96.2 | E | specific | validated |
| ICD-11 | 2A21.0 | E | specific | validated |
| MONDO | 0016586 | E | validated | |
| MONDO | 16586 | E | validated | |
| MeSH | D034721 | E | validated | |
| UMLS | C0221013 | E | validated | |
| GARD | 8616 | E | validated | |
| MedDRA | 10042949 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98292Mastocytosis
rare hematological diseases; rare neoplastic diseases
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
7 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.3 / 100 000 | Italy | Value and class | Validated | 8645532[PMID] |
| Point prevalence | 1-5 / 10 000 | — | Worldwide | Class only | Validated | [EXPERT]_ORPHANET |
| Annual incidence | 1-9 / 1 000 000 | 0.9 / 100 000 | Denmark | Value and class | Validated | 24761987[PMID] |
| Point prevalence | 1-9 / 100 000 | 9.6 / 100 000 | Denmark | Value and class | Validated | 24761987[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.6 / 100 000 | Europe | Value and class | Validated | 24761987[PMID]_8645532[PMID] |
| Point prevalence | 1-5 / 10 000 | 13 / 100 000 | Netherlands | Value and class | Validated | 23219169[PMID] |
| Point prevalence | 1-5 / 10 000 | 11.3 / 100 000 | Europe | Value and class | Validated | 23219169[PMID]_24761987[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2467
- This record as JSON: /data/d/2467.json