| craniotelencefalische dysplasie (aandoening) | | craniotelencefalische dysplasie | | Gekarakteriseerd door frontale encephalocele, craniosynostose, en ontwikkelingsachterstand. | | Craniotelencephalic dysplasia | | Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983. |
| | Id | 715422002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q04.3 | | Term | Overige onderontwikkeling van hersenen |
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| SNOMED CT to Orphanet simple map | 1528 |
| SNOMED CT to ICD-10 extended map | | Target | Q04.3 | | Rule | TRUE | | Advice | ALWAYS Q04.3 | 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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