Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3736408013 | Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3736410010 | Skin fragillity, woolly hair, palmoplantar keratoderma syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3736411014 | Skin fragility, wooly hair, palmoplantar keratoderma syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3736413012 | A rare genetic ectodermal dysplasia syndrome with characteristics of persistent skin fragility which manifests with blistering and erosions due to minimal trauma, wooly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated. Caused by homozygous or compound heterozygous mutation in the desmoplakin gene on chromosome 6p24. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3736414018 | A rare genetic ectodermal dysplasia syndrome with characteristics of persistent skin fragility which manifests with blistering and erosions due to minimal trauma, woolly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated. Caused by homozygous or compound heterozygous mutation in the desmoplakin gene on chromosome 6p24. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4704821000172110 | syndroom van huidfragiliteit, wollig haar en palmoplantaire keratodermie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | Is a | Ectodermal dysplasia | true | Inferred relationship | Some | ||
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | Is a | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 3 | |
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | Is a | Autosomal hereditary disorder | true | Inferred relationship | Some | ||
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | Is a | Congenital wooly hair (disorder) | true | Inferred relationship | Some | ||
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 3 | |
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | Finding site | Ectoderm structure | true | Inferred relationship | Some | 2 | |
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | Finding site | Hair shaft structure | true | Inferred relationship | Some | 1 | |
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | Has interpretation | Abnormal | true | Inferred relationship | Some | 4 | |
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | Is a | Hereditary diffuse palmoplantar keratoderma (disorder) | true | Inferred relationship | Some | ||
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | Interprets | Keratinization | true | Inferred relationship | Some | 4 | |
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | Is a | Congenital ichthyosis of skin | false | Inferred relationship | Some | ||
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | Finding site | Skin structure of palmar area of hand | false | Inferred relationship | Some | 6 | |
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | Is a | Inherited disorder of keratinisation | true | Inferred relationship | Some | ||
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | Is a | Keratosis | false | Inferred relationship | Some | ||
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | Finding site | Skin structure of sole of foot (body structure) | false | Inferred relationship | Some | 5 | |
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 6 | |
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 5 | |
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | Is a | Rough skin (finding) | false | Inferred relationship | Some | ||
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | Is a | Rough skin of hands | true | Inferred relationship | Some | ||
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | Finding site | Entire skin of palmar area of hand | true | Inferred relationship | Some | 5 | |
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | Finding site | Entire skin of sole of foot | true | Inferred relationship | Some | 6 | |
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets