autosomaal recessieve hereditaire aandoening	congenitale pontocerebellaire hypoplasie	hereditaire aandoening van zenuwstelsel	hereditaire ontwikkelingsstoornis
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pontocerebellaire hypoplasie type 3 (aandoening)
	pontocerebellaire hypoplasie type 3
	PCH3
	Congenital pontocerebellar hypoplasia type 3
	PCH3 - pontocerebellar hypoplasia type 3 Cerebellar atrophy with progressive microcephaly Pontocerebellar hypoplasia type 3
	A rare form of PCH with clinical manifestation neonatally of hypotonia and impaired swallowing and from infancy onward seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3. To date, PCH3 is reported in only 3 families. In 2 families, an implication of locus 7q11-21 has been demonstrated. PCH3 is inherited in an autosomal recessive manner.

Id	718609003
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

97249

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