Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 378387018 | Localised junctional epidermolysis bullosa | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 378388011 | Localized junctional epidermolysis bullosa | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 645047017 | Localized junctional epidermolysis bullosa (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 1495891000005113 | Lokaliseret junktional bulløs epidermolyse | da | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Danish module (core metadata concept) |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Inverse junctional epidermolysis bullosa | Is a | True | Localised junctional epidermolysis bullosa | Inferred relationship | Some | |
| Progressive junctional epidermolysis bullosa (neurotrophic) | Is a | True | Localised junctional epidermolysis bullosa | Inferred relationship | Some | |
| A rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognathism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992. | Is a | True | Localised junctional epidermolysis bullosa | Inferred relationship | Some |
This concept is not in any reference sets
FHIR