algehele ontwikkelingsachterstand	autosomaal recessieve hereditaire aandoening	cerebellaire ataxie	chronische encefalopathie	hereditaire ataxie	hereditaire cerebellaire degeneratie	hereditaire ontwikkelingsstoornis	rompataxie	verstandelijke beperking
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autosomaal recessieve cerebellaire ataxie door deficiëntie van 'CWF19 like cell cycle control factor 1' (aandoening)
	autosomaal recessieve cerebellaire ataxie door CWF19L1-deficiëntie
	SCAR-17 autosomaal recessieve spinocerebellaire ataxie type 17 autosomaal recessieve cerebellaire ataxie door deficiëntie van 'CWF19 like cell cycle control factor 1'
	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
	SCAR17 - spinocerebellar ataxia autosomal recessive type 17 Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency
	A rare autosomal recessive cerebellar ataxia with characteristics of early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor and pyramidal signs among others.

Id	1237625002
Status	Primitive

Clinical course

Pathological process

proces van pathologische ontwikkeling

Has interpretation	gestoord
Interprets	intellectueel vermogen

Has interpretation	gestoord
Interprets	Adaptation behavior

Associated morphology	atrophia
Finding site	structuur van cerebellum

SNOMED CT to Orphanet simple map

453521

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