Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3308623012 | A very rare hereditary skin disease with manifestation of irregularly distributed epidermal hyperkeratosis of the palms and soles. Reported in 35 families worldwide to date. The lesions usually start to develop in early adolescence but can also present later in life. Mutations in the AAGAB gene (15q22.33-q23) have recently been identified as one of the causes. Mutations in the COL14A1 gene (8q23) have also been identified as causal in some cases in Asia that seem to have a similar phenotype | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401499019 | A rare hereditary skin disease characterized by irregularly distributed epidermal papular/punctate hyperkeratosis of the palms and soles with wide variation among patients. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401500011 | A rare hereditary skin disease characterised by irregularly distributed epidermal papular/punctate hyperkeratosis of the palms and soles with wide variation among patients. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3308619016 | Punctate palmoplantar keratoderma type 1 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3308620010 | Punctate palmoplantar keratoderma type 1 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3308621014 | Buschke Fischer Brauer syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3308622019 | Keratodermia palmoplantaris papulosa Buschke Fischer Brauer type | 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 rare hereditary skin disease characterized by irregularly distributed epidermal papular/punctate hyperkeratosis of the palms and soles with wide variation among patients. | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
A rare hereditary skin disease characterized by irregularly distributed epidermal papular/punctate hyperkeratosis of the palms and soles with wide variation among patients. | Is a | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
A rare hereditary skin disease characterized by irregularly distributed epidermal papular/punctate hyperkeratosis of the palms and soles with wide variation among patients. | Is a | Punctate palmoplantar keratoderma (disorder) | true | Inferred relationship | Some | ||
A rare hereditary skin disease characterized by irregularly distributed epidermal papular/punctate hyperkeratosis of the palms and soles with wide variation among patients. | Has definitional manifestation | Abnormal keratinization | false | Inferred relationship | Some | ||
A rare hereditary skin disease characterized by irregularly distributed epidermal papular/punctate hyperkeratosis of the palms and soles with wide variation among patients. | Finding site | Skin structure | false | Inferred relationship | Some | 3 | |
A rare hereditary skin disease characterized by irregularly distributed epidermal papular/punctate hyperkeratosis of the palms and soles with wide variation among patients. | Finding site | Skin structure | false | Inferred relationship | Some | 4 | |
A rare hereditary skin disease characterized by irregularly distributed epidermal papular/punctate hyperkeratosis of the palms and soles with wide variation among patients. | Associated morphology | dysgenese | false | Inferred relationship | Some | 3 | |
A rare hereditary skin disease characterized by irregularly distributed epidermal papular/punctate hyperkeratosis of the palms and soles with wide variation among patients. | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
A rare hereditary skin disease characterized by irregularly distributed epidermal papular/punctate hyperkeratosis of the palms and soles with wide variation among patients. | Associated morphology | Hyperkeratosis | false | Inferred relationship | Some | 4 | |
A rare hereditary skin disease characterized by irregularly distributed epidermal papular/punctate hyperkeratosis of the palms and soles with wide variation among patients. | Has interpretation | Abnormal | false | Inferred relationship | Some | 1 | |
A rare hereditary skin disease characterized by irregularly distributed epidermal papular/punctate hyperkeratosis of the palms and soles with wide variation among patients. | Interprets | Keratinization | false | Inferred relationship | Some | 1 | |
A rare hereditary skin disease characterized by irregularly distributed epidermal papular/punctate hyperkeratosis of the palms and soles with wide variation among patients. | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 2 | |
A rare hereditary skin disease characterized by irregularly distributed epidermal papular/punctate hyperkeratosis of the palms and soles with wide variation among patients. | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 1 | |
A rare hereditary skin disease characterized by irregularly distributed epidermal papular/punctate hyperkeratosis of the palms and soles with wide variation among patients. | Finding site | Skin structure of palmar area of hand | true | Inferred relationship | Some | 2 | |
A rare hereditary skin disease characterized by irregularly distributed epidermal papular/punctate hyperkeratosis of the palms and soles with wide variation among patients. | Finding site | Skin structure of sole of foot | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)