autosomaal dominante hereditaire aandoening
spinocerebellaire ataxie
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spinocerebellaire ataxie type 40 (aandoening)
spinocerebellaire ataxie type 40
SCA40
Spinocerebellar ataxia type 40
A very rare disease with characteristics of adult-onset unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.
Id
734020000
Status
Primitive
Associated morphology
degeneratieve afwijking
Finding site
structuur van cerebellum
Associated morphology
degeneratieve afwijking
Finding site
structuur van medulla spinalis
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
Target
G11.8
Term
Overige gespecificeerde vormen van hereditaire ataxie
SNOMED CT to Orphanet simple map
423275
SNOMED CT to ICD-10 extended map
Target
G11.8
Rule
TRUE
Advice
ALWAYS G11.8
Correlation
SNOMED CT source code to target map code correlation not specified