Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3655792019 | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3655793012 | Hepatoencephalopathy due to COXPD1 (combined oxidative phosphorylation defect type 1) | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3655794018 | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3655795017 | A rare inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis. The disease has characteristics of intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | Due to | Liver disease | true | Inferred relationship | Some | 3 | |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | Is a | Hepatic encephalopathy | true | Inferred relationship | Some | ||
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | Is a | Congenital disease | true | Inferred relationship | Some | ||
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | Is a | Metabolic and genetic disorder affecting the liver | true | Inferred relationship | Some | ||
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | Is a | Digestive system hereditary disorder | true | Inferred relationship | Some | ||
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | Finding site | Brain structure | true | Inferred relationship | Some | 2 | |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | Finding site | Liver structure | true | Inferred relationship | Some | 1 | |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | Occurrence | Congenital | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
Description inactivation indicator reference set
FHIR