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pontocerebellaire hypoplasie type 2 (aandoening)
pontocerebellaire hypoplasie type 2
PCH2
Congenital pontocerebellar hypoplasia type 2
Pontocerebellar hypoplasia type 2
PCH2 - 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.
Id715463008
StatusPrimitive
Associated morphologyhypoplasie
Finding sitestructuur van cerebellum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypoplasie
Finding sitestructuur van pons
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ04.3
RuleTRUE
AdviceALWAYS Q04.3
CorrelationSNOMED CT source code to target map code correlation not specified