raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:98292

Mastocytosis

Type
Category
Group
Group of disorders
Age of onset
All ages
Status
active

This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enMastocytosis
frMastocytose
deMastozytose
esMastocitosis
itMastocitosi
nlMastocytose
ptMastocitose
plMastocytoza
csMastocytózy
ukМастоцитоз
zh肥大细胞增多症
trMastositoz
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM154800Evalidated
ICD-112A21Especificvalidated
MONDO0007950Evalidated
MONDO7950Evalidated
MeSHD008415Evalidated
UMLSC0024899Evalidated
GARD6987Evalidated
MedDRA10026891Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

Children (4):

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

3 records
TypeClassValueAreaQualificationValidationSource
Point prevalence1-9 / 100 0003 / 100 000EuropeValue and classValidatedEuropean Medicines Agency 2018[OTHER]
Point prevalence1-9 / 100 0009.59 / 100 000DenmarkValue and classValidated24761987[PMID]
Point prevalence1-5 / 10 00010 / 100 000WorldwideValue and classValidated[EXPERT]_24745674[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.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card