| myopathische vorm van mitochondriaal deoxyribonucleïnezuurdepletiesyndroom (aandoening) | | myopathische vorm van mitochondriaal DNA-depletiesyndroom | | myopathische vorm van mitochondrieel DNA-depletiesyndroom
myopathische vorm van mitochondriaal deoxyribonucleïnezuurdepletiesyndroom
| | Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form | | A rare mitochondrial DNA depletion syndrome characterized by muscle weakness, and progressive, generalized hypotonia due to depletion of mtDNA in skeletal muscles. Clinical progression ranges from rapid and early fatal course due to respiratory failure, to slowly progressive myopathy over the course of childhood or even early adulthood. |
| | Id | 1231309005 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 254875 |
| 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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