| Mitochondrial deoxyribonucleic acid depletion syndrome, hepatocerebral form due to deoxyguanosine kinase deficiency (disorder) | | 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. | | hepatocerebrale vorm van syndroom van mitochondriale deoxyribonucleïnezuurdepletie door deoxyguanosinekinasedeficiëntie | | hepatocerebrale vorm van syndroom van mitochondriaal DNA depletie 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
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| | Id | 783734000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| ICD-10 complex map reference set | | 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 |
| Target | E74.4 | | Rule | TRUE | | Advice | ALWAYS E74.4 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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