autosomaal dominante hereditaire aandoening	congenitale afwijking van huid	erytrokeratodermie	hereditaire ontwikkelingsstoornis	spinocerebellaire ataxie
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spinocerebellaire ataxie type 34 (aandoening)
	spinocerebellaire ataxie type 34
	SCA34
	Spinocerebellar ataxia type 34
	Erythrokeratodermia with ataxia Spinocerebellar ataxia and erythrokeratodermia
	Disease with characteristics of papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes. Reported in 25 members of one French-Canadian family to date. Due to a mutation in the ELOVL4 gene (6q14).

Id	719255000
Status	Primitive

Has interpretation	afwijkend
Interprets	keratinisatie

Associated morphology	morfologische afwijking
Finding site	structuur van huid
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

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	G11.1
Term	Vroeg optredende cerebellaire ataxie

SNOMED CT to Orphanet simple map

1955

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