autosomaal recessieve hereditaire aandoening	congenitale pontocerebellaire hypoplasie	hereditaire aandoening van zenuwstelsel	hereditaire ontwikkelingsstoornis
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pontocerebellaire hypoplasie type 1 (aandoening)
	pontocerebellaire hypoplasie type 1
	PCH1
	Congenital pontocerebellar hypoplasia type 1
	Norman disease Pontocerebellar hypoplasia type 1 PCH1 - pontocerebellar hypoplasia type 1
	A severe, genetic form of pontocerebellar hypoplasia (PCH) characterized by spinal cord anterior horn cell degeneration in addition to pontocerebellar hypoplasia. Clinically, patients manifest with a severe global development deficit that is evident early on from difficulties in feeding and swallowing.

Id	718610008
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

2254

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