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autosomaal dominante spastische ataxie type 1 (aandoening)
autosomaal dominante spastische ataxie type 1
Autosomal dominant spastic ataxia type 1
SPAX1 - autosomal dominant spastic ataxia type 1
A rare, genetic, autosomal dominant spastic ataxia disorder characterized by lower-limb spasticity and ataxia in the form of head jerks, ocular movement abnormalities, dysarthria, dysphagia and gait disturbances.
Id784380009
StatusPrimitive
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG11.4
TermHereditaire spastische paraplegie
SNOMED CT to Orphanet simple map251282
SNOMED CT to ICD-10 extended map
TargetG11.4
RuleTRUE
AdviceALWAYS G11.4
CorrelationSNOMED CT source code to target map code correlation not specified