Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3757791014 | Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3757792019 | Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3757793012 | A rare genetic isolated focal palmoplantar keratoderma disease with characteristics of focal thickening of the skin of the soles and often of the palms, associated with minimal or no nail involvement. Patients frequently present non-epidermolytic painful plantar blistering and occasionally subtle oral leukokeratosis or plantar hyperhidrosis. Caused by heterozygous mutation in the KRT6C gene on chromosome 12q13. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering | Is a | Hereditary palmoplantar keratoderma | true | Inferred relationship | Some | ||
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering | Finding site | Skin structure | false | Inferred relationship | Some | 1 | |
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering | Has interpretation | Abnormal | true | Inferred relationship | Some | 2 | |
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 1 | |
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering | Interprets | Keratinization | true | Inferred relationship | Some | 2 | |
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering | Is a | Inherited disorder of keratinisation | true | Inferred relationship | Some | ||
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering | Is a | Keratosis | false | Inferred relationship | Some | ||
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 3 | |
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering | Finding site | Skin structure of sole of foot (body structure) | true | Inferred relationship | Some | 1 | |
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering | Finding site | Skin structure of palmar area of hand | true | Inferred relationship | Some | 3 | |
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering | Is a | Rough skin (finding) | false | Inferred relationship | Some | ||
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering | Is a | Rough skin of hands | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets