Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
5401175012 | Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401176013 | Encephalopathy due to sulphite oxidase deficiency is a rare neurometabolic disorder characterised by seizures, progressive encephalopathy and lens dislocation. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3303628018 | Encephalopathy due to sulfite oxidase deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3303629014 | Encephalopathy due to sulfite oxidase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3304304018 | Encephalopathy due to sulphite oxidase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
944841000172114 | encéphalopathie par déficit en sulfite oxydase | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3392011001000115 | Enzephalopathie durch Sulfitoxidase-Mangel | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation. | Due to | Sulfite oxidase deficiency | true | Inferred relationship | Some | 1 | |
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation. | Is a | Disorder of lens | true | Inferred relationship | Some | ||
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation. | Is a | Disorder of brain (disorder) | true | Inferred relationship | Some | ||
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation. | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation. | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation. | Finding site | Brain structure | true | Inferred relationship | Some | 2 | |
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation. | Associated morphology | Dislocation | true | Inferred relationship | Some | 3 | |
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation. | Finding site | Lens clear | true | Inferred relationship | Some | 3 | |
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation. | Is a | Anomaly of eye (disorder) | false | Inferred relationship | Some | ||
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation. | Is a | Central nervous system complication | true | Inferred relationship | Some | ||
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation. | Is a | Luxation of eye | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)