| epileptische encefalopathie met gegeneraliseerde cerebrale demyelinisatie (aandoening) | | epileptische encefalopathie met gegeneraliseerde cerebrale demyelinisatie | | Epileptic encephalopathy with global cerebral demyelination | | Mitochondrial aspartate-glutamate carrier 1 deficiency
| | A rare mitochondrial substrate carrier disorder with characteristics of severe muscular hypotonia, seizures beginning in the first year of life and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease. |
| | Id | 726702005 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E88.8 | | Term | Overige gespecificeerde stofwisselingsstoornissen |
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| SNOMED CT to Orphanet simple map | 353217 |
| SNOMED CT to ICD-10 extended map | | Target | E88.8 | | Rule | TRUE | | Advice | ALWAYS E88.8 | 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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