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syndroom van ataxie en pancytopenie (aandoening)
syndroom van ataxie en pancytopenie
Ataxia pancytopenia syndrome
Myelocerebellar disorder
Rare disease affecting the cerebellum and the bone marrow. Onset and symptoms vary among affected individuals. Atrophy and changes to the cerebellum cause problems including ataxia, dysmetria, clonus, nystagmus and these neurological issues worsen over time. Pancytopenia can result in extreme fatigue, anemia, neutropenia and thrombocytopenia. This disease is also associated with increased risk of blood malignancy particularly myelodysplastic syndrome and acute myeloid leukemia. Caused by inherited gain of function mutations in the SAMD9L gene. Inherited in an autosomal dominant pattern.
Id768556005
StatusPrimitive
Pathological processafwijkend immuunproces
Has interpretationafwijkend
Interpretshemostase
Has interpretationonder referentiebereik
InterpretsPlatelet count
DHD Diagnosethesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetD61.0
RuleTRUE
AdviceALWAYS D61.0
CorrelationSNOMED CT source code to target map code correlation not specified