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Infantile-onset autosomal recessive non progressive cerebellar ataxia (disorder)
Infantile-onset autosomal recessive non progressive cerebellar ataxia
Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
SCAR6 - autosomal recessive spinocerebellar ataxia type 6
Autosomal recessive spinocerebellar ataxia type 6
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.
autosomaal recessieve niet-progressieve cerebellaire ataxie beginnend op zuigelingenleeftijd
SCAR6
autosomaal recessieve spinocerebellaire ataxie type 6
Id785300001
StatusPrimitive
Finding siteCerebellar structure
OccurrenceInfancy
Clinical courseNon-progressive
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG11.0
RuleTRUE
AdviceALWAYS G11.0
CorrelationSNOMED CT source code to target map code correlation not specified