| 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
| | MEGDEL syndrome | | 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome
3-methylglutaconic aciduria with hearing loss, encephalopathy, Leigh-like syndrome
3-methylglutaconic aciduria with deafness, encephalopathy, Leigh-like syndrome
| | MEGDEL syndrome is a rare, genetic, neurometabolic disorder characterized by neonatal hypoglycemia, features of sepsis that are not linked to infection, development of feeding problems, failure to thrive, transient liver dysfunction, and truncal hypotonia followed by dystonia and spasticity which results in psychomotor development arrest and/or regression. Progressive sensorineural deafness, intellectual disability and absent speech are also associated. Laboratory tests demonstrate 3-methylglutaconic aciduria and temporary elevated serum lactate and transaminases. |
| | 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 | 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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