| vroeg optredende epileptische encefalopathie en verstandelijke beperking door mutatie van 'glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A' (aandoening) | | vroeg optredende epileptische encefalopathie en verstandelijke beperking door mutatie van 'glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A' | | vroeg optredende epileptische encefalopathie en mentale retardatie door mutatie van 'glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A'
vroeg optredende epileptische encefalopathie en verstandelijke handicap door mutatie van 'glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A'
vroeg optredende epileptische encefalopathie en mentale retardatie door GRIN2A-mutatie
| | Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | | Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A (glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A) mutation
Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation
| | A rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI. |
| | Id | 770431001 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E72.1 | | Term | Stofwisselingsstoornissen van zwavelhoudende aminozuren |
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| SNOMED CT to Orphanet simple map | 289266 |
| SNOMED CT to ICD-10 extended map | | Target | E72.1 | | Rule | TRUE | | Advice | ALWAYS E72.1 | 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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