| mitochondriale myopathie met reversibele cytochroom-c-oxidasedeficiëntie (aandoening) | | mitochondriale myopathie met reversibele cytochroom-c-oxidasedeficiëntie | | mitochondriale myopathie met reversibele deficiëntie van cytochroom-c-oxidase
| | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | | Mitochondrial myopathy with reversible COX (cytochrome C oxidase) deficiency
Infantile reversible cytochrome C oxidase deficiency myopathy
Reversible infantile respiratory chain deficiency
Benign COX (cytochrome C oxidase) deficiency
Reversible infantile cytochrome C oxidase deficiency
Mitochondrial myopathy with reversible complex IV deficiency
| | A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of potentially life-threatening severe myopathy manifesting in the neonatal to early infantile period, followed by marked spontaneous improvement of muscular function by early childhood. Associated biochemical findings include lactic acidosis and a transient marked decrease in respiratory chain activity. |
| | Id | 784370005 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G71.3 | | Term | Mitochondriën-myopathie, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 254864 |
| SNOMED CT to ICD-10 extended map | | Target | G71.3 | | Rule | TRUE | | Advice | ALWAYS G71.3 | 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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