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'Cayman type' cerebellaire ataxie (aandoening)
'Cayman type' cerebellaire ataxie
'cerebellar ataxia Cayman type'
Cerebellar ataxia Cayman type
Cayman ataxia
Cerebellar ataxia Cayman type has characteristics of psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia. The prevalence is unknown, but the disorder is very rare in the general population. However, a founder mutation has led to a high incidence in the Cayman island population. The disorder is transmitted as an autosomal recessive trait and is caused by mutations in the ATCAY gene (19p13.3), encoding Caytaxin.
Id717332007
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetG11.0
RuleTRUE
AdviceALWAYS G11.0
CorrelationSNOMED CT source code to target map code correlation not specified