| 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. |
| | Id | 1162864000 | | Status | Defined |
| SNOMED CT to Orphanet simple map | 99810 |
| SNOMED CT to ICD-10 extended map | | Target | Q04.6 | | Rule | TRUE | | Advice | ALWAYS Q04.6 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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