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 |
| 1018821000172110 | hépatoencéphalopathie par COXPD1 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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 |
| 767441000241113 | hépatoencéphalopathie par déficit combiné de la phosphorylation oxydative de type 1 (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 966801000172110 | hépatoencéphalopathie par déficit combiné de la phosphorylation oxydative de type 1 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation 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) | Due to | affection du foie | true | Inferred relationship | Some | 3 | |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) | est un(e) (attribut) | encéphalopathie hépatique | true | Inferred relationship | Some | ||
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) | est un(e) (attribut) | Congenital disease | true | Inferred relationship | Some | ||
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) | est un(e) (attribut) | troubles métaboliques et génétiques affectant le foie | true | Inferred relationship | Some | ||
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) | est un(e) (attribut) | Digestive system hereditary disorder | true | Inferred relationship | Some | ||
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) | localisation d'une constatation (attribut) | structure de l'encéphale | true | Inferred relationship | Some | 2 | |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) | localisation d'une constatation (attribut) | foie | true | Inferred relationship | Some | 1 | |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR