autosomaal recessieve hereditaire aandoening	cerebellaire ataxie	hereditaire ataxie
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autosomaal recessieve niet-progressieve cerebellaire ataxie beginnend op zuigelingenleeftijd (aandoening)
	autosomaal recessieve niet-progressieve cerebellaire ataxie beginnend op zuigelingenleeftijd
	autosomaal recessieve spinocerebellaire ataxie type 6 SCAR6
	Infantile-onset autosomal recessive non progressive cerebellar ataxia
	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia SCAR6 - autosomal recessive spinocerebellar ataxia type 6 Autosomal recessive spinocerebellar ataxia type 6
	A rare genetic autosomal recessive cerebellar ataxia disease with characteristics of nonprogressive cerebellar ataxia, with onset in infancy, manifesting with delayed motor and speech development, gait ataxia, dysmetria, hypotonia, increased deep tendon reflexes and dysarthria. Additional variable manifestations include moderate nystagmus on lateral gaze, mild spasticity, intention tremor, short stature and pes planus. Brain imaging reveals cerebellar vermis atrophy.

Id	785300001
Status	Primitive

Finding site	structuur van cerebellum
Occurrence	zuigelingenperiode

Clinical course

niet-progressief

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	G11.0
Term	Congenitale niet-progressieve ataxie

SNOMED CT to Orphanet simple map

284332

SNOMED CT to ICD-10 extended map

Target	G11.0
Rule	TRUE
Advice	ALWAYS G11.0
Correlation	SNOMED CT source code to target map code correlation not specified