autosomaal recessieve hereditaire aandoening	cerebellaire ataxie	ectodermale dysplasie	hereditaire aandoening van integumentum	hereditaire ataxie	hereditaire ontwikkelingsstoornis
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cerebellaire ataxie gelijktijdig met ectodermale dysplasie (aandoening)
	cerebellaire ataxie gelijktijdig met ectodermale dysplasie
	syndroom van cerebellaire ataxie en ectodermale dysplasie
	Cerebellar ataxia and ectodermal dysplasia
	Cerebellar ataxia co-occurrent with ectodermal dysplasia
	A very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates cerebellar atrophy.

Id	715371006
Status	Primitive

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

Associated morphology	dysplasie
Finding site	structuur van ectoderm
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Finding site	structuur van cerebellum
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	G11.1
Term	Vroeg optredende cerebellaire ataxie

Target	Q82.4
Term	Ectodermale dysplasie (anhidrotisch)

SNOMED CT to Orphanet simple map

1174

SNOMED CT to ICD-10 extended map

Target	G11.1
Rule	TRUE
Advice	ALWAYS G11.1
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q82.4
Rule	TRUE
Advice	ALWAYS Q82.4
Correlation	SNOMED CT source code to target map code correlation not specified