| DNA2-gerelateerd mitochondriaal DNA-deletiesyndroom (aandoening) | | DNA2-gerelateerd mitochondriaal DNA-deletiesyndroom | | DNA2-gengerelateerd mtDNA-deletiesyndroom
| | DNA2-related mitochondrial DNA deletion syndrome | | Mitochondrial DNA deletion syndrome with progressive myopathy
DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome
Mitochondrial DNA deletion syndrome with limb-girdle weakness
| | A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of either late-onset myopathy with progressive external ophthalmoplegia and muscular weakness (predominantly limb-girdle) or early-onset myopathy presenting with decreased fetal movements, congenital ptosis, progressive external ophthalmoplegia, hypotonia and variably joint contractures. Reduced content and multiple deletions of mitochondrial DNA is observed in muscle biopsy. Caused by heterozygous mutation in the DNA2 gene on chromosome 10q. |
| | Id | 783057002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E88.8 | | Term | Overige gespecificeerde stofwisselingsstoornissen |
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| SNOMED CT to Orphanet simple map | 352470 |
| SNOMED CT to ICD-10 extended map | | Target | E88.8 | | Rule | TRUE | | Advice | ALWAYS E88.8 | 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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