Autosomal recessive hereditary disorder	Congenital pontocerebellar hypoplasia	Developmental hereditary disorder	Hereditary disorder of nervous system
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Congenital pontocerebellar hypoplasia type 2 (disorder)
	Congenital pontocerebellar hypoplasia type 2
	PCH2 - pontocerebellar hypoplasia type 2 Pontocerebellar hypoplasia type 2
	The most common subtype of pontocerebellar hypoplasia with features of neonatal onset, lack of voluntary motor development and later progressive microencephaly, general clonus, development of chorea and spasticity.The majority of patients will not reach puberty. Inherited in an autosomal recessive manner.
	pontocerebellaire hypoplasie type 2
	PCH2

Id	715463008
Status	Primitive

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

Associated morphology	Hypoplasia
Finding site	Cerebellar 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
Correlation	SNOMED CT source code to target map code correlation not specified