autosomaal recessieve hereditaire aandoening	spinocerebellaire ataxie
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autosomaal recessieve cerebellaire ataxie door 'stress-induced phosphoprotein 1'-homologie en 'U-box containing protein 1'-deficiëntie (aandoening)
	autosomaal recessieve cerebellaire ataxie door 'stress-induced phosphoprotein 1'-homologie en 'U-box containing protein 1'-deficiëntie
	autosomaal recessieve cerebellaire ataxie door STUB1-deficiëntie autosomaal recessieve spinocerebellaire ataxie type 16 autosomaal recessieve cerebellaire ataxie door STIP1-homologie en 'U-box containing protein 1'-deficiëntie ARCA16
	Autosomal recessive cerebellar ataxia due to STUB1 deficiency
	Autosomal recessive cerebellar ataxia due to STUB1 (STIP1 homology and U-box containing protein 1) deficiency Autosomal recessive cerebellar ataxia due to STIP1 homology and U-box containing protein 1 deficiency SCAR16 - spinocerebellar ataxia autosomal recessive type 16 Spinocerebellar ataxia autosomal recessive type 16
	A rare hereditary ataxia with characteristics of progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, and spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated. Caused by homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13.

Id	782719004
Status	Primitive

Associated morphology	degeneratieve afwijking
Finding site	structuur van medulla spinalis

Associated morphology	degeneratieve afwijking
Finding site	structuur van cerebellum

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	G11.1
Term	Vroeg optredende cerebellaire ataxie

SNOMED CT to Orphanet simple map

412057

SNOMED CT to ICD-10 extended map

Target	G11.1
Rule	TRUE
Advice	ALWAYS G11.1 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified