| hepatocerebrale vorm van syndroom van mitochondriale deoxyribonucleïnezuurdepletie door deoxyguanosinekinasedeficiëntie (aandoening) | | hepatocerebrale vorm van syndroom van mitochondriale deoxyribonucleïnezuurdepletie door deoxyguanosinekinasedeficiëntie | | hepatocerebrale vorm van syndroom van depletie van mitochondriaal desoxyribonucleïnezuur door desoxyguanosinekinasedeficiëntie
hepatocerebrale vorm van MDS door deoxyguanosinekinasedeficiëntie
hepatocerebrale vorm van syndroom van depletie van mtDNA door deoxyguanosinekinasedeficiëntie
hepatocerebrale vorm van syndroom van mitochondriaal DNA depletie door deoxyguanosinekinasedeficiëntie
| | Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency | | Mitochondrial deoxyribonucleic acid depletion syndrome, hepatocerebral form due to deoxyguanosine kinase deficiency
| | A rare genetic mitochondrial DNA depletion syndrome with characteristics of severely reduced mitochondrial DNA content due to DGUOK deficiency typically manifesting with early-onset liver dysfunction, psychomotor delay, hypotonia, rotary nystagmus that develops into opsoclonus, lactic acidosis and hypoglycemia. Caused by homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13. |
| | Id | 783734000 | | 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 |
| Target | E74.4 | | Term | Stoornissen van pyruvaatmetabolisme en stoornissen van gluconeogenese |
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| SNOMED CT to Orphanet simple map | 279934 |
| 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 |
| Target | E79.8 | | Rule | TRUE | | Advice | ALWAYS E79.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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