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X-linked non progressive cerebellar ataxia (disorder)
X-linked non progressive cerebellar ataxia
X-linked spinocerebellar ataxia type 5
A rare hereditary ataxia with characteristics of delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.
X-gebonden niet-progressieve cerebellaire ataxie
SCAX5
X-gebonden spinocerebellaire ataxie type 5
Id766818009
StatusPrimitive
Clinical courseNon-progressive
Finding siteCerebellar structure
OccurrenceCongenital
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