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 |
| 3425669018 | The most severe subtype of dystrophic epidermolysis bullosa characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. Blisters develop at birth or during the neonatal period and affect all the body as well as the oral and gastrointestinal mucosa. Eye involvement is frequent and includes blepharitis and corneal blisters that can lead to loss of vision. Esophageal stricture is frequent and result in severe dysphagia. Nearly all patients develop at least one aggressive squamous cell carcinoma. The disease is caused by null mutations within the type VII collagen gene (COL7A1) that usually lead to a lack of functional collagen VII, the main constituent of anchoring fibrils that anchor the basement membrane to the dermis. Transmission is autosomal recessive. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3425670017 | The most severe subtype of dystrophic epidermolysis bullosa characterised by generalised cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. Blisters develop at birth or during the neonatal period and affect all the body as well as the oral and gastrointestinal mucosa. Eye involvement is frequent and includes blepharitis and corneal blisters that can lead to loss of vision. Oesophageal stricture is frequent and result in severe dysphagia. Nearly all patients develop at least one aggressive squamous cell carcinoma. The disease is caused by null mutations within the type VII collagen gene (COL7A1) that usually lead to a lack of functional collagen VII, the main constituent of anchoring fibrils that anchor the basement membrane to the dermis. Transmission is autosomal recessive. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403146011 | A severe form of dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403147019 | A severe form of dystrophic epidermolysis bullosa (DEB) characterised by generalised cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3425664011 | Severe generalized recessive dystrophic epidermolysis bullosa (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3425665012 | Severe generalized recessive dystrophic epidermolysis bullosa | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3425666013 | Severe generalised recessive dystrophic epidermolysis bullosa | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3425667016 | Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3425668014 | Autosomal recessive dystrophic epidermolysis bullosa Hallopeau Siemens type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| A severe form of dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. | Is a | Recessive dystrophic epidermolysis bullosa | true | Inferred relationship | Some | ||
| A severe form of dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. | Is a | Generalized dystrophic epidermolysis bullosa | true | Inferred relationship | Some | ||
| A severe form of dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. | Finding site | Connective tissue structure | false | Inferred relationship | Some | ||
| A severe form of dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. | Associated morphology | Epidermolysis | false | Inferred relationship | Some | 3 | |
| A severe form of dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. | Finding site | Skin structure | false | Inferred relationship | Some | 3 | |
| A severe form of dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. | Associated morphology | dysgenese | false | Inferred relationship | Some | 4 | |
| A severe form of dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| A severe form of dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. | Finding site | Skin structure | false | Inferred relationship | Some | 4 | |
| A severe form of dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. | Finding site | Skin structure | true | Inferred relationship | Some | 1 | |
| A severe form of dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| A severe form of dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| A severe form of dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. | Associated morphology | Epidermolysis | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR