| mitochondriale encefalocardiomyopathie door transmembraanproteïne-70-mutatie (aandoening) | | mitochondriale encefalocardiomyopathie door transmembraanproteïne-70-mutatie | | mitochondriale encefalocardiomyopathie door TMEM70
| | TMEM70 related mitochondrial encephalo-cardio-myopathy | | Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation
| | Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypertrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria. |
| | Id | 718212006 | | 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 | 1194 |
| 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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