| 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. |
| | Id | 773627004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q04.6 | | Term | Congenitale cerebrale cysten |
| Target | Q02 | | Term | Microcefalie |
| Target | Q12.0 | | Term | Congenitaal cataract |
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| SNOMED CT to Orphanet simple map | 306547 |
| SNOMED CT to ICD-10 extended map | | Target | Q07.8 | | Rule | TRUE | | Advice | ALWAYS Q07.8 | 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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