autosomaal recessieve hereditaire aandoening	congenitale pontocerebellaire hypoplasie	hereditaire aandoening van zenuwstelsel	hereditaire ontwikkelingsstoornis
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pontocerebellaire hypoplasie type 6 (aandoening)
	pontocerebellaire hypoplasie type 6
	PCH6
	Congenital pontocerebellar hypoplasia type 6
	PCH6 - pontocerebellar hypoplasia type 6 Fatal infantile encephalopathy with mitochondrial respiratory chain defect Pontocerebellar hypoplasia type 6
	A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and severe cerebral cortical atrophy associated with pontocerebellar hypoplasia with the pons and cerebellum equally affected. Clinically the disorder manifests at birth with hypotonia, clonus, epilepsy, impaired swallowing and from infancy by progressive microcephaly, spasticity and lactic acidosis.

Id	718606005
Status	Primitive

Associated morphology	hypoplasie
Finding site	structuur van cerebellum
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	hypoplasie
Finding site	structuur van pons
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q04.3
Term	Overige onderontwikkeling van hersenen

SNOMED CT to Orphanet simple map

166073

SNOMED CT to ICD-10 extended map

Target	Q04.3
Rule	TRUE
Advice	ALWAYS Q04.3 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified