Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3655793012 | Hepatoencephalopathy due to COXPD1 (combined oxidative phosphorylation defect type 1) | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3655794018 | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6747431000146110 | hepatische encefalopathie door gecombineerd defect van oxidatieve fosforylering type 1 (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6747441000146119 | hepatische encefalopathie door gecombineerd defect van oxidatieve fosforylering type 1 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7726981000146119 | hepatische encefalopathie door COXPD1 | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) | Is a | Hepatic encephalopathy | true | Inferred relationship | Some | ||
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) | Is a | Congenital disease (disorder) | false | Inferred relationship | Some | ||
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) | Is a | Metabolic and genetic disorder affecting the liver | true | Inferred relationship | Some | ||
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 2 | |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) | Finding site | Liver structure | true | Inferred relationship | Some | 1 | |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) | Due to | Disease of liver | true | Inferred relationship | Some | 3 | |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) | Is a | Disorder of digestive system specific to fetus OR newborn | true | Inferred relationship | Some | ||
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) | Is a | Congenital neurological disorder (disorder) | true | Inferred relationship | Some | ||
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) | Is a | Hereditary metabolic disease | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR