Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5048280017 | KRT1-related diffuse nonepidermolytic keratoderma | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5048281018 | Keratin 1-related diffuse nonepidermolytic palmoplantar keratoderma (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5048283015 | Keratin 1-related diffuse nonepidermolytic palmoplantar keratoderma | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5048284014 | KRT1-related diffuse NEPPK (nonepidermolytic palmoplantar keratoderma) | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399978014 | A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399979018 | A rare, genetic, isolated diffuse palmoplantar keratoderma characterised by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| KRT1-related diffuse nonepidermolytic keratoderma | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| KRT1-related diffuse nonepidermolytic keratoderma | Is a | Hereditary diffuse palmoplantar keratoderma (disorder) | true | Inferred relationship | Some | ||
| KRT1-related diffuse nonepidermolytic keratoderma | Finding site | Entire skin of palmar area of hand | true | Inferred relationship | Some | 1 | |
| KRT1-related diffuse nonepidermolytic keratoderma | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 1 | |
| KRT1-related diffuse nonepidermolytic keratoderma | Finding site | Entire skin of sole of foot | true | Inferred relationship | Some | 2 | |
| KRT1-related diffuse nonepidermolytic keratoderma | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR