| syndroom van doofheid, encefaloneuropathie, obesitas en klepinsufficiëntie (aandoening) | | syndroom van doofheid, encefaloneuropathie, obesitas en klepinsufficiëntie | | Deafness, encephaloneuropathy, obesity, valvulopathy syndrome | | Hearing loss, encephaloneuropathy, obesity, valvulopathy syndrome
| | A rare mitochondrial disease with marked clinical variability typically and characteristics of encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated. |
| | Id | 763688008 | | 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 | 254898 |
| 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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