Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation - CISMeF

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CISMeF

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Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutationICD-11 More detail

Preferred Label : Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation;

Details

Origin ID

1655554340;

Currated CISMeF NLP mapping
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation [ORDO Disease]
- Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (disorder) [SNOMED CT concept]
- Epilepsy with neurodevelopmental defects [OMIM Phenotype]

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14/07/2025

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