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 |
| 3432332013 | Keratin 14 related epidermolysis bullosa simplex (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3432333015 | KRT14 related epidermolysis bullosa simplex | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3432334014 | Keratin 14 related epidermolysis bullosa simplex | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3432335010 | EBS-AR KRT14 - epidermolysis bullosa simplex autosomal recessive keratin 14 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3432336011 | A basal subtype of epidermolysis bullosa simplex characterized by generalized or, less frequently, localized acral blistering. 19 cases have been reported to date. Onset of the disease is usually at birth. Milia are rare but atrophic scarring and dystrophic nails usually occur, along with focal keratoderma (palms and soles) and rarely ichthyotic plaques. Extracutaneous involvement is common, including anemia, growth retardation, oral cavity abnormalities (blisters and erosions, and caries) and constipation. Due to mutations in the KRT14 gene (17q12-q21), encoding keratin 14. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3432337019 | A basal subtype of epidermolysis bullosa simplex characterised by generalised or, less frequently, localised acral blistering. 19 cases have been reported to date. Onset of the disease is usually at birth. Milia are rare but atrophic scarring and dystrophic nails usually occur, along with focal keratoderma (palms and soles) and rarely ichthyotic plaques. Extracutaneous involvement is common, including anaemia, growth retardation, oral cavity abnormalities (blisters and erosions, and caries) and constipation. Due to mutations in the KRT14 gene (17q12-q21), encoding keratin 14. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
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This concept is not in any reference sets
FHIR