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autosomaal recessieve spinocerebellaire ataxie type 23 (aandoening)
autosomaal recessieve spinocerebellaire ataxie type 23
SCAR-23
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency
SCAR23 - spinocerebellar ataxia autosomal recessive type 23
Spinocerebellar ataxia autosomal recessive type 23
A rare hereditary ataxia characterized by early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability. There is evidence the disease is caused by homozygous mutation in the TDP2 gene on chromosome 6p22.
Id773498006
StatusPrimitive
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
TargetG11.1
RuleTRUE
AdviceALWAYS G11.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified