Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency 783734000
SNOMED CT code
| SNOMED code | 783734000 |
|---|---|
| name | Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency |
| status | active |
| date introduced | 2019-07-31 |
| fully specified name(s) | Mitochondrial deoxyribonucleic acid depletion syndrome, hepatocerebral form due to deoxyguanosine kinase deficiency (disorder) |
| synonyms |
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| attributes - group2 | |
| Finding site | Liver structure 10200004 |
| attributes - group3 | |
| Finding site | Cerebrum 83678007 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Inherited metabolic disorder of nervous system 128190004 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency 783734000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Metabolic and genetic disorder affecting the liver 235903001 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency 783734000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Disorder of pyruvate metabolism and mitochondrial respiratory chain 237981000 Disorder of mitochondrial respiratory chain complexes 237986005 Depletion of mitochondrial DNA 237995002 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency 783734000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Disorder of purine and pyrimidine metabolism 238006008 Disorder of purine metabolism 32612005 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency 783734000 SNOMED CT Concept 138875005 Clinical finding 404684003 Digestive system finding 386617003 Disorder of digestive system 53619000 Digestive system hereditary disorder 363080007 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency 783734000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Metabolic encephalopathy 50122000 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency 783734000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency 783734000 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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