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 |
| 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) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | est un(e) (attribut) | Ectodermal dysplasia | true | Inferred relationship | Some | ||
| Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
| Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | morphologie associée (attribut) | 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) | est un(e) (attribut) | Autosomal hereditary disorder | true | Inferred relationship | Some | ||
| Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | est un(e) (attribut) | Congenital wooly hair (disorder) | true | Inferred relationship | Some | ||
| Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | true | Inferred relationship | Some | 3 | |
| Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | localisation d'une constatation (attribut) | Ectoderm structure | true | Inferred relationship | Some | 2 | |
| Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | localisation d'une constatation (attribut) | Hair shaft structure | true | Inferred relationship | Some | 1 | |
| Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | a pour interprétation (attribut) | anormal | true | Inferred relationship | Some | 4 | |
| Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
| Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | est un(e) (attribut) | 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) | interprète (attribut) | Keratinization, function (observable entity) | true | Inferred relationship | Some | 4 | |
| Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
| Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 2 | |
| Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | est un(e) (attribut) | ichtyose congénitale | false | Inferred relationship | Some | ||
| Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | localisation d'une constatation (attribut) | peau de la région palmaire de la main (structure corporelle) | false | Inferred relationship | Some | 6 | |
| Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | est un(e) (attribut) | Inherited disorder of keratinization | true | Inferred relationship | Some | ||
| Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | est un(e) (attribut) | kératose | false | Inferred relationship | Some | ||
| Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | localisation d'une constatation (attribut) | Skin structure of sole of foot | false | Inferred relationship | Some | 5 | |
| Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | morphologie associée (attribut) | Hyperkeratosis | true | Inferred relationship | Some | 6 | |
| Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | morphologie associée (attribut) | Hyperkeratosis | true | Inferred relationship | Some | 5 | |
| Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | est un(e) (attribut) | Rough skin (finding) | false | Inferred relationship | Some | ||
| Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | est un(e) (attribut) | Rough skin of hands | true | Inferred relationship | Some | ||
| Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | localisation d'une constatation (attribut) | Entire skin of palmar area of hand | true | Inferred relationship | Some | 5 | |
| Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | localisation d'une constatation (attribut) | Entire skin of sole of foot | true | Inferred relationship | Some | 6 | |
| Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR