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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
GRIN2A developmental and epileptic encephalopathy
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
Glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A developmental and epileptic encephalopathy
GRIN2A-DEE - GRIN2A developmental and epileptic encephalopathy
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is 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.
Id770431001
StatusPrimitive
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map289266
SNOMED CT to ICD-10 extended map
TargetE72.1
RuleTRUE
AdviceALWAYS E72.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified