Autosomal recessive hereditary disorder	Congenital pontocerebellar hypoplasia	Developmental hereditary disorder	Hereditary disorder of nervous system
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Congenital pontocerebellar hypoplasia type 3 (disorder)
	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.
	pontocerebellaire hypoplasie type 3
	PCH3

Id	718609003
Status	Primitive

Associated morphology	Hypoplasia
Finding site	Cerebellar structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Hypoplasia
Finding site	Pontine structure
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

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