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pontocerebellaire hypoplasie type 9 (aandoening)
pontocerebellaire hypoplasie type 9
PCH9
Congenital pontocerebellar hypoplasia type 9
A rare genetic subtype of non-syndromic pontocerebellar hypoplasia with characteristics of progressive cerebellum and brainstem atrophy, corpus callosum hypo/aplasia and progressive post-natal microcephaly. Patients typically present profound global developmental delay, spastic tetraparesis, seizures, cortical visual impairment and on neuroimaging abnormal brain morphology that includes pontocerebellar hypoplasia, ''figure of 8'' midbrain appearance and more variably interhemispheric cysts, ventriculomegaly and cerebral dysmyelination. There is evidence the disease is caused by homozygous mutation in the AMPD2 gene on chromosome 1p13.
Id775907000
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 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified