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 |
| 5048285010 | A rare genetic isolated diffuse palmoplantar keratoderma with characteristics of 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 areola, 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 | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| KRT1-related diffuse nonepidermolytic keratoderma | est un(e) (attribut) | Hereditary diffuse palmoplantar keratoderma (disorder) | true | Inferred relationship | Some | ||
| KRT1-related diffuse nonepidermolytic keratoderma | localisation d'une constatation (attribut) | Entire skin of palmar area of hand | true | Inferred relationship | Some | 1 | |
| KRT1-related diffuse nonepidermolytic keratoderma | morphologie associée (attribut) | Hyperkeratosis | true | Inferred relationship | Some | 1 | |
| KRT1-related diffuse nonepidermolytic keratoderma | localisation d'une constatation (attribut) | Entire skin of sole of foot | true | Inferred relationship | Some | 2 | |
| KRT1-related diffuse nonepidermolytic keratoderma | morphologie associée (attribut) | Hyperkeratosis | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
Description inactivation indicator reference set
FHIR