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autosomaal recessieve niet-progressieve cerebellaire ataxie beginnend op zuigelingenleeftijd (aandoening)
autosomaal recessieve niet-progressieve cerebellaire ataxie beginnend op zuigelingenleeftijd
SCAR6
autosomaal recessieve spinocerebellaire ataxie type 6
Infantile-onset autosomal recessive non progressive cerebellar ataxia
SCAR6 - autosomal recessive spinocerebellar ataxia type 6
Autosomal recessive spinocerebellar ataxia type 6
Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
A rare genetic autosomal recessive cerebellar ataxia disease with characteristics of nonprogressive cerebellar ataxia, with onset in infancy, manifesting with delayed motor and speech development, gait ataxia, dysmetria, hypotonia, increased deep tendon reflexes and dysarthria. Additional variable manifestations include moderate nystagmus on lateral gaze, mild spasticity, intention tremor, short stature and pes planus. Brain imaging reveals cerebellar vermis atrophy.
Id785300001
StatusPrimitive
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