| acuut infantiel leverfalen door synthesedefect van door mitochondriaal deoxyribonucleïnezuur gecodeerd eiwit (aandoening) | | acuut infantiel leverfalen door synthesedefect van door mitochondriaal DNA gecodeerd eiwit | | acuut infantiel leverfalen door synthesedefect van door mtDNA gecodeerd eiwit
acuut infantiel leverfalen door synthesedefect van door mitochondrieel desoxyribonucleïnezuur gecodeerd proteïne
acuut infantiel leverfalen door synthesedefect van door mitochondriaal deoxyribonucleïnezuur gecodeerd eiwit
| | Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein | | A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterized clinically by transient, but life-threatening acute liver failure episodes. |
| | Id | 720461006 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | K72.0 | | Term | Acute en subacute leverinsufficiëntie |
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| SNOMED CT to Orphanet simple map | 217371 |
| 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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