Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3760082018 | Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3760083011 | Mitochondrial deoxyribonucleic acid depletion syndrome, hepatocerebral form due to deoxyguanosine kinase deficiency (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3760084017 | Mitochondrial deoxyribonucleic acid depletion syndrome, hepatocerebral form due to deoxyguanosine kinase deficiency | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3760085016 | 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. | en | Definition | Active | Case sensitive | SNOMED CT core |
| 3760086015 | 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 hypoglycaemia. Caused by homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency | Is a | Metabolic encephalopathy | true | Inferred relationship | Some | ||
| Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency | Is a | Digestive system hereditary disorder | true | Inferred relationship | Some | ||
| Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency | Is a | Depletion of mitochondrial DNA | true | Inferred relationship | Some | ||
| Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency | Is a | Disorder of purine metabolism | true | Inferred relationship | Some | ||
| Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency | Is a | Metabolic and genetic disorder affecting the liver | true | Inferred relationship | Some | ||
| Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency | Finding site | Liver structure | true | Inferred relationship | Some | 2 | |
| Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency | Finding site | Structure of cerebrum | true | Inferred relationship | Some | 3 | |
| Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR