raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:101022

Mediterranean macrothrombocytopenia

inactive · moved to ORPHA:2882Sitosterolemia

Type
Disease
Group
Disorder
Status
inactive
Flag
Deprecated entity

This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Sitosterolemia

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enMediterranean macrothrombocytopenia
frMacrothrombocytopénie méditérranéenne
deMakrothrombozytopenie, mediterrane
esMacrotrombocitopenia mediterránea
itMacrotrombocitopenia mediterranea
nlMediterrane macrotrombocytopenie
ptMacrotrombocitopenia mediterrânea
plMakrotrombocytopenia śródziemnomorska
csStředomořská makrotrombocytopenie
ukСередземноморська макротромбоцитопенія
zh地中海巨血小板减少症
trAkdeniz makrotrombositopeni
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
UMLSC0272281Evalidated

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

3

Classification

Not placed in any Orphanet classification in this release.

No children.

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

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

7

Sources for this card