| 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
| | 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. Most patients who survive the neonatal period have mild cranio-facial dysmorphism with low set ears, prominent nasal bridge and retrognathia, persisting muscular hypotonia and moderate psychomotor developmental delay. The result of an isolated decrease in the tissue content and activity of mitochondrial FoF1 ATP synthase caused by depressed biosynthesis of the enzyme. This enzyme defect is present in all tissues and is due to autosomal recessive mutations in the TMEM70 gene (8q21.11), encoding ancillary factor of ATP synthase biogenesis. |
| | 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 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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