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autosomaal recessieve cerebelloparenchymale stoornis type 3 (aandoening)
autosomaal recessieve cerebelloparenchymale stoornis type 3
autosomaal recessieve spinocerebellaire ataxie type 2
Autosomal recessive cerebelloparenchymal disorder type 3
SCAR2 (spinocerebellar ataxia autosomal recessive 2)
Cerebelloparenchymal disorder III
In this disorder cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. The mode of inheritance in the few reported families is autosomal recessive.
Id715369006
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van cerebellum
Clinical courseniet-progressief
referentieset met complexe 'mapping' naar ICD-10
TargetG11.0
RuleTRUE
AdviceALWAYS G11.0
CorrelationSNOMED CT source code to target map code correlation not specified