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polymicrogyrie met hypoplasie van nervus opticus (aandoening)
polymicrogyrie met hypoplasie van nervus opticus
Polymicrogyria with optic nerve hypoplasia
A rare genetic syndrome with characteristics of severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction. There is evidence this disease is caused by homozygous mutation in the TUBA8 gene on chromosome 22q11.
Id771336003
StatusPrimitive
Associated morphologyhypoplasie
Finding sitestructuur van nervus opticus
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
TargetH47.0
RuleTRUE
AdviceALWAYS H47.0
CorrelationSNOMED CT source code to target map code correlation not specified