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 |
| 3425084011 | A rare subtype of dystrophic epidermolysis bullosa characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. Less than 30 cases have been reported to date. The disease usually manifests at birth. Skin blisters generally affect the whole body. Blisters can also affect the oral cavity. Disease activity usually ceases within the first 6 to 24 months of life. However, nail dystrophy and some degree of skin fragility can persist in adulthood. Caused by mutations within the type VII collagen gene (COL7A1). Mutations in this gene lead to reduced amounts or an alteration in function of collagen VII. The condition is usually inherited in an autosomal dominant manner, but can also rarely be transmitted as an autosomal recessive trait. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3425085012 | A rare subtype of dystrophic epidermolysis bullosa characterised by generalised blistering at birth that usually regresses within the first 6 to 24 months of life. Less than 30 cases have been reported to date. The disease usually manifests at birth. Skin blisters generally affect the whole body. Blisters can also affect the oral cavity. Disease activity usually ceases within the first 6 to 24 months of life. However, nail dystrophy and some degree of skin fragility can persist in adulthood. Caused by mutations within the type VII collagen gene (COL7A1). Mutations in this gene lead to reduced amounts or an alteration in function of collagen VII. The condition is usually inherited in an autosomal dominant manner, but can also rarely be transmitted as an autosomal recessive trait. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403104019 | A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403105018 | A rare dystrophic epidermolysis bullosa (DEB) characterised by generalised blistering at birth that usually regresses within the first 6 to 24 months of life. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3425082010 | Transient bullous dermolysis of newborn (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3425083017 | Transient bullous dermolysis of newborn | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. | Is a | Autosomal hereditary disorder | true | Inferred relationship | Some | ||
| A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. | Is a | Neonatal disorder | false | Inferred relationship | Some | ||
| A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. | Is a | Acute skin disorder | true | Inferred relationship | Some | ||
| A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. | Is a | Acute metabolic disorder | false | Inferred relationship | Some | ||
| A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. | Is a | Generalized dystrophic epidermolysis bullosa | true | Inferred relationship | Some | ||
| A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. | Is a | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
| A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. | Is a | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
| A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. | Finding site | Connective tissue structure | false | Inferred relationship | Some | ||
| A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. | Finding site | Skin structure | false | Inferred relationship | Some | 4 | |
| A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. | Finding site | Skin structure | false | Inferred relationship | Some | 5 | |
| A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. | Associated morphology | Epidermolysis | false | Inferred relationship | Some | 4 | |
| A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. | Occurrence | Neonatal | false | Inferred relationship | Some | 4 | |
| A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. | Clinical course | Transitory | false | Inferred relationship | Some | 4 | |
| A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. | Associated morphology | dysgenese | false | Inferred relationship | Some | 5 | |
| A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. | Is a | Neonatal metabolic disorder (disorder) | false | Inferred relationship | Some | ||
| A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. | Finding site | Skin structure | true | Inferred relationship | Some | 2 | |
| A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 1 | |
| A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. | Associated morphology | Epidermolysis | false | Inferred relationship | Some | 1 | |
| A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. | Clinical course | Transitory | false | Inferred relationship | Some | 1 | |
| A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. | Finding site | Skin structure | false | Inferred relationship | Some | 1 | |
| A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. | Associated morphology | Epidermolysis | true | Inferred relationship | Some | 2 | |
| A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. | Occurrence | Neonatal | false | Inferred relationship | Some | 1 | |
| A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. | Is a | Neonatal dermatosis (disorder) | false | Inferred relationship | Some | ||
| A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. | Clinical course | Transitory | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR