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familiaire porencefale cyste (aandoening)
familiaire porencefale cyste
familiaire porencefalie
Familial porencephaly
Familial porencephalic cyst
A rare genetic cerebral malformation with characteristics of an intracerebral fluid-filled cyst or cavity with or without communication between the ventricle and subarachnoid space. Clinical manifestations depend on location and severity and may include hemiparesis, seizures, intellectual disability, and dystonia. Porencephaly may manifest before or after birth. The cysts or cavities can be located anywhere within the cerebral parenchyma and are typically lined by smooth walls and surrounded by an atrophic cortex. Mutations in the COL4A1 (13q34) and COL4A2 (13q34) genes have been identified in familial porencephaly and de novo cases. The pattern of inheritance for familial porencephaly is autosomal dominant.
Id1162864000
StatusDefined
Associated morphologycyste
Finding sitestructuur van hemispherium cerebri
ICD-10 complex map reference set
TargetQ04.6
RuleTRUE
AdviceALWAYS Q04.6 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified