Autosomal dominant hereditary disorder
Spinocerebellar ataxia
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Spinocerebellar ataxia type 27 (disorder)
Spinocerebellar ataxia type 27
Disease with characteristics of early-onset tremor, dyskinesia and slowly progressive cerebellar ataxia. Fewer than 30 cases have been reported to date. This disease is caused by a mutation in the fibroblast growth factor 14 FGF14 gene (13q34). Prognosis is relatively good. Life-threatening status epilepticus and intractable seizure or severe dysphagia is rare.
spinocerebellaire ataxie type 27
SCA27
Id719252002
StatusPrimitive
Associated morphologyDegenerative abnormality
Finding siteCerebellar structure
Associated morphologyDegenerative abnormality
Finding siteSpinal cord structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG11.8
RuleTRUE
AdviceALWAYS G11.8
CorrelationSNOMED CT source code to target map code correlation not specified