Status: current, Not 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 |
| 3307247012 | Epidermolysis bullosa simplex with circinate migratory erythema (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3307248019 | Epidermolysis bullosa simplex with circinate migratory erythema | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3307249010 | A basal subtype of epidermolysis bullosa simplex with manifestation of belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. Prevalence is unknown but 2 families have been reported to date. Onset of the disease is usually at birth. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. The disease is due to a specific mutation in the KRT5 (12q13.13) gene, encoding keratin 5. Transmission is autosomal dominant. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3870781000052110 | epidermolysis bullosa simplex med circinärt migratoriskt erytem | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Epidermolysis bullosa simplex with circinate migratory erythema (disorder) | Is a | Autosomal dominant epidermolysis bullosa simplex (disorder) | true | Inferred relationship | Some | ||
| Epidermolysis bullosa simplex with circinate migratory erythema (disorder) | Finding site | Connective tissue structure | false | Inferred relationship | Some | ||
| Epidermolysis bullosa simplex with circinate migratory erythema (disorder) | Associated morphology | utvecklingsabnormitet | false | Inferred relationship | Some | 3 | |
| Epidermolysis bullosa simplex with circinate migratory erythema (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Epidermolysis bullosa simplex with circinate migratory erythema (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 3 | |
| Epidermolysis bullosa simplex with circinate migratory erythema (disorder) | Associated morphology | Epidermolysis | false | Inferred relationship | Some | 4 | |
| Epidermolysis bullosa simplex with circinate migratory erythema (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 4 | |
| Epidermolysis bullosa simplex with circinate migratory erythema (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 1 | |
| Epidermolysis bullosa simplex with circinate migratory erythema (disorder) | Associated morphology | Epidermolysis | true | Inferred relationship | Some | 1 | |
| Epidermolysis bullosa simplex with circinate migratory erythema (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Epidermolysis bullosa simplex with circinate migratory erythema (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR