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 |
| 3442495011 | Centripetalis recessive dystrophic epidermolysis bullosa (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3442496012 | Centripetalis recessive dystrophic epidermolysis bullosa | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3442497015 | Centripetal recessive dystrophic epidermolysis bullosa | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3442498013 | RDEB-Ce - recessive dystrophic epidermolysis bullosa centripetalis | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 761071000241119 | epidermolyse bulleuse dystrophique récessive centripète (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 873071000172117 | epidermolyse bulleuse dystrophique récessive centripète | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 940441000172117 | EBDR (epidermolyse bulleuse dystrophique récessive) centripète | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3442499017 | An extremely rare subtype of dystrophic epidermolysis bullosa with characteristics of blistering, which begins acrally and then progressively, spreads toward the trunk. Less than ten cases have been reported to date. Onset is usually at birth or during infancy. The centripetal progression of blister formation is slow and occurs over decades. Healing of blisters is associated with milia formation, atrophic scarring and nail dystrophy. Mucosal involvement is usually absent. The disease is caused by mutations within the type VII collagen gene (COL7A1). Mutations in this gene lead to an alteration in function or to a reduction in the amounts of collagen VII. This impairs its assembly into anchoring fibrils that anchor the basement membrane to the underlying dermis. The disease follows an autosomal recessive pattern of inheritance. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Centripetalis recessive dystrophic epidermolysis bullosa (disorder) | localisation d'une constatation (attribut) | structure de la peau | true | Inferred relationship | Some | 1 | |
| Centripetalis recessive dystrophic epidermolysis bullosa (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Centripetalis recessive dystrophic epidermolysis bullosa (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Centripetalis recessive dystrophic epidermolysis bullosa (disorder) | morphologie associée (attribut) | Epidermolysis | true | Inferred relationship | Some | 1 | |
| Centripetalis recessive dystrophic epidermolysis bullosa (disorder) | est un(e) (attribut) | Recessive dystrophic epidermolysis bullosa (disorder) | true | Inferred relationship | Some | ||
| Centripetalis recessive dystrophic epidermolysis bullosa (disorder) | localisation d'une constatation (attribut) | Connective tissue structure | false | Inferred relationship | Some | ||
| Centripetalis recessive dystrophic epidermolysis bullosa (disorder) | morphologie associée (attribut) | Epidermolysis | false | Inferred relationship | Some | 4 | |
| Centripetalis recessive dystrophic epidermolysis bullosa (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
| Centripetalis recessive dystrophic epidermolysis bullosa (disorder) | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 4 | |
| Centripetalis recessive dystrophic epidermolysis bullosa (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 5 | |
| Centripetalis recessive dystrophic epidermolysis bullosa (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
| Centripetalis recessive dystrophic epidermolysis bullosa (disorder) | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR