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syndroom van ataxie en pancytopenie (aandoening)
syndroom van ataxie en pancytopenie
Ataxia pancytopenia syndrome
Myelocerebellar disorder
A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.
Id768556005
StatusPrimitive
Has interpretationonder referentiebereik
InterpretsPlatelet count
Pathological processafwijkend immuunproces
Has interpretationafwijkend
Interpretshemostase
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD61.0
TermConstitutionele aplastische anemie
TargetG11.9
TermHereditaire ataxie, niet gespecificeerd
SNOMED CT to Orphanet simple map2585
SNOMED CT to ICD-10 extended map
TargetD61.0
RuleTRUE
AdviceALWAYS D61.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified