Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3332063016 | A rare subtype of dystrophic epidermolysis bullosa that shows no blistering and that has characteristics of dystrophic or absent nails. Prevalence is unknown. Approximately ten families have been reported to date. However, this variant may be overlooked because of negligible clinical implications. Onset is usually at birth or during infancy. Except from nail involvement, no other cutaneous or extracutaneous symptoms are observed. Nail deformity is often limited to toenails that can appear thickened and shortened. Caused by mutations within the type VII collagen gene (COL7A1). It usually follows an autosomal dominant pattern of inheritance. One family with an autosomal recessive inheritance has also been reported. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402931014 | A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402932019 | A form of localised dystrophic epidermolysis bullosa characterised by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3332060018 | Dystrophic epidermolysis bullosa nails only (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3332061019 | Dystrophic epidermolysis bullosa nails only | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3332062014 | Nails only DEB (dystrophic epidermolysis bullosa) | 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 form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed. | Is a | Autosomal hereditary disorder | true | Inferred relationship | Some | ||
A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed. | Is a | Congenital anomaly of nail | true | Inferred relationship | Some | ||
A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed. | Is a | Localised dystrophic epidermolysis bullosa | true | Inferred relationship | Some | ||
A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed. | Is a | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed. | Is a | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed. | Finding site | Connective tissue structure | false | Inferred relationship | Some | ||
A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed. | Associated morphology | dysgenese | false | Inferred relationship | Some | 4 | |
A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed. | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed. | Finding site | Neglestruktur | false | Inferred relationship | Some | 4 | |
A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed. | Associated morphology | dysgenese | false | Inferred relationship | Some | 5 | |
A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed. | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed. | Finding site | Skin structure | false | Inferred relationship | Some | 5 | |
A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed. | Associated morphology | Epidermolysis | false | Inferred relationship | Some | 6 | |
A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed. | Finding site | Skin structure | false | Inferred relationship | Some | 6 | |
A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed. | Finding site | Skin structure | true | Inferred relationship | Some | 2 | |
A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed. | Associated morphology | Epidermolysis | true | Inferred relationship | Some | 2 | |
A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed. | Finding site | Nail unit is a complex structure which consists of nail plate, nail bed, nail root and skin around the nail plate. | true | Inferred relationship | Some | 1 | |
A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed. | Is a | Genetic disorder of nail (disorder) | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)