ORPHA:66662
Extracutaneous mastocytoma
- Type
- Disease
- Group
- Disorder
- Age of onset
- All ages
- Status
- active
A rare neoplastic disease characterized by a localized, unifocal, low-grade tumor composed of mature mast cells, without evidence of systemic mastocytosis or skin lesions. The tumor most commonly arises in the lung and shows a non-destructive growth pattern.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Extracutaneous mastocytoma | |
| fr | Mastocytome extra-cutané | |
| de | Mastozytom, extrakutanes | |
| es | Mastocitoma extracutáneo | |
| it | Mastocitoma extracutaneo | |
| nl | Extracutaan mastocytoom | |
| pt | Mastocitoma extra-cutâneo | |
| pl | Mastocytoza w narządach poza skórą | |
| cs | Mimokožní mastocytom | |
| uk | Позашкірна мастоцитома | |
| zh | 皮肤外肥大细胞瘤 | |
| tr | Ekstrakütanöz mastositoma |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C96.2 | NTBT | inclusion | validated |
| ICD-11 | 2A21.3 | E | specific | validated |
| MONDO | 0019025 | E | validated | |
| UMLS | C0272202 | 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
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 34233110[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 34233110[PMID]_ORPHANET |
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/66662
- This record as JSON: /data/d/66662.json