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pontocerebellaire hypoplasie type 8 (aandoening)
pontocerebellaire hypoplasie type 8
PCH8
Congenital pontocerebellar hypoplasia type 8
PCH8 - pontocerebellar hypoplasia type 8
Pontocerebellar hypoplasia type 8
Pontocerebellar hypoplasia due to CHMP1A (charged multivesicular body protein 1A) mutation
A novel very rare form of PCH with clinical manifestations of progressive microcephaly, feeding difficulties and severe developmental delay. Although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures are demonstrated. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene.
Id718611007
StatusPrimitive
Associated morphologyhypoplasie
Finding sitestructuur van pons
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypoplasie
Finding sitestructuur van cerebellum
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