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pontocerebellaire hypoplasie type 4 (aandoening)
pontocerebellaire hypoplasie type 4
PCH4
Congenital pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 4
Fatal infantile encephalopathy with olivopontocerebellar hypoplasia
PCH4 - pontocerebellar hypoplasia type 4
A very rare form of PCH with prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death. Has been reported in 10 families to date. Caused by a compound heterozygosity for p.A307S plus non-sense or splice site mutations in the TSEN54 gene. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5. Inherited in an autosomal recessive manner.
Id718608006
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