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syndroom van porencefalie, microcefalie en bilateraal congenitaal cataract (aandoening)
syndroom van porencefalie, microcefalie en bilateraal congenitaal cataract
Porencephaly, microcephaly, bilateral congenital cataract syndrome
A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.
Id773627004
StatusPrimitive
Associated morphologytroebeling
Finding sitestructuur van lens van linker oog
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologycysteuze dilatatie
Finding sitestructuur van encephalon
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologytroebeling
Finding sitestructuur van lens van rechter oog
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ04.6
RuleTRUE
AdviceALWAYS Q04.6
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ02
RuleTRUE
AdviceALWAYS Q02
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ12.0
RuleTRUE
AdviceALWAYS Q12.0
CorrelationSNOMED CT source code to target map code correlation not specified