| 3-methylglutaconacidurie type IV met perceptief gehoorverlies, encefalopathie en Leigh-achtig syndroom (aandoening) | | 3-methylglutaconacidurie type IV met perceptief gehoorverlies, encefalopathie en Leigh-achtig syndroom | | MEGDEL-syndroom
| | 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome | | MEGDEL syndrome
| | A rare autosomal recessive inherited disorder caused by mutations in the SERAC1 gene. Multiple body systems are affected with manifestations including 3-methylglutaconic aciduria, deafness, encephalopathy and Leigh-like disease. |
| | Id | 711409002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E71.1 | | Term | Overige gespecificeerde stofwisselingsstoornissen van aminozuren met vertakte keten |
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| SNOMED CT to Orphanet simple map | 352328 |
| SNOMED CT to ICD-10 extended map | | Target | E71.1 | | Rule | TRUE | | Advice | ALWAYS E71.1 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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