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autosomaal recessieve cerebellaire ataxie met oculomotorische apraxie type 2 (aandoening)
autosomaal recessieve cerebellaire ataxie met oculomotorische apraxie type 2
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2
SCAR1 - spinocerebellar ataxia autosomal recessive 1
AOA2 - ataxia oculomotor apraxia type 2
Spinocerebellar ataxia with axonal neuropathy type 2
A rare autosomal recessive cerebellar ataxia with characteristics of progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level. This disease is mostly an adolescent onset disorder. Caused by mutations in SETX gene (9q34), encoding senataxin protein, a DNA/RNA helicase in nucleus which is implicated in DNA break repair. Mutations in the gene PIK3R5 (17p13.1) have also been implicated in the pathogenesis of this disease. Transmission is autosomal recessive.
Id725408001
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetG60.2
RuleTRUE
AdviceALWAYS G60.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH51.8
RuleTRUE
AdviceALWAYS H51.8
CorrelationSNOMED CT source code to target map code correlation not specified