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syndroom van autosomaal recessieve cerebellaire ataxie en psychomotorische ontwikkelingsachterstand (aandoening)
syndroom van autosomaal recessieve cerebellaire ataxie en psychomotorische ontwikkelingsachterstand
ARCA11
autosomaal recessieve spinocerebellaire ataxie type 11
Autosomal recessive cerebellar ataxia, psychomotor delay syndrome
Autosomal recessive spinocerebellar ataxia type 11
A rare hereditary cerebellar ataxia disorder with characteristics of late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging. There is evidence the disease is caused by homozygous mutation in the SYT14 gene on chromosome 1q32.
Id783060009
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van cerebellum
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