Autosomal dominant hereditary disorder
Hereditary ataxia
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Autosomal dominant spastic ataxia type 1 (disorder)
Autosomal dominant spastic ataxia type 1
SPAX1 - autosomal dominant spastic ataxia type 1
A rare genetic autosomal dominant spastic ataxia disorder with characteristics of lower-limb spasticity and ataxia in the form of head jerks, ocular movement abnormalities, dysarthria, dysphagia and gait disturbances. Caused by heterozygous mutation in the VAMP1 gene on chromosome 12p13.
autosomaal dominante spastische ataxie type 1
Id784380009
StatusPrimitive
Finding siteStructure of nervous system
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG11.4
RuleTRUE
AdviceALWAYS G11.4
CorrelationSNOMED CT source code to target map code correlation not specified