| ernstige X-gebonden mitochondriale encefalomyopathie (aandoening) | | ernstige X-gebonden mitochondriale encefalomyopathie | | mitochondriale encefalomyopathie door gecombineerde oxidatieve fosforylatiedeficiëntie type 6
mitochondriale encefalomyopathie door COXPD6-deficiëntie
| | Severe X-linked mitochondrial encephalomyopathy | | Mitochondrial encephalomyopathy due to combined oxidative phosphorylation deficiency 6
Mitochondrial encephalomyopathy due to COXPD6 deficiency
| | An extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder with characteristics of psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date. Combined oxidative phosphorylation deficiency-6 (COXPD6) is caused by hemizygous mutation in the AIFM1 gene on chromosome Xq26.1. |
| | Id | 722212004 | | 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 | 238329 |
| 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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