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spinocerebellaire ataxie met axonale neuropathie type 1 (aandoening)
spinocerebellaire ataxie met axonale neuropathie type 1
SCAN1
Spinocerebellar ataxia with axonal neuropathy type 1
A rare genetic neurological disorder characterized by late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, steppage gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.
Id765091006
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van cerebellum
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