| syndroom van primaire hypomagnesiëmie, refractaire epileptische aanvallen en verstandelijke beperking (aandoening) | | syndroom van primaire hypomagnesiëmie, refractaire epileptische aanvallen en verstandelijke beperking | | syndroom van primaire hypomagnesiëmie, refractaire epileptische aanvallen en mentale retardatie
syndroom van primaire magnesiumdeficiëntie, therapieresistente insulten en verstandelijke handicap
| | Primary hypomagnesemia, refractory seizures, intellectual disability syndrome | | A rare genetic disorder of magnesium transport characterized by infantile onset of generalized seizures and severe hypomagnesemia due to massive renal magnesium wasting. Seizures persist despite magnesium supplementation and are associated with significant global developmental delay and intellectual disability. Brain MRI may show reduced cerebral volume. |
| | Id | 1269236003 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 564178 |
| SNOMED CT to ICD-10 extended map | | Target | E83.4 | | Rule | TRUE | | Advice | ALWAYS E83.4 | 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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