Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3425104012 | Thiamine-responsive encephalopathy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3425105013 | Thiamine-responsive encephalopathy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3425106014 | A Wernicke-like encephalopathy with characteristics of seizures responsive to high doses of thiamine. Two cases have been described so far. Clinical features include epilepsy, nystagmus, ophthalmoplegia and ataxia. The disease results from mutations in the SLC19A3 gene, encoding a thiamine transporter. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Thiamine-responsive encephalopathy (disorder) | Is a | Disorder of brain (disorder) | true | Inferred relationship | Some | ||
| Thiamine-responsive encephalopathy (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Thiamine-responsive encephalopathy (disorder) | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some | ||
| Thiamine-responsive encephalopathy (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Thiamine-responsive encephalopathy (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR