Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3316663010 | Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3316664016 | Autosomal dominant palmoplantar keratoderma and congenital alopecia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3316665015 | Palmoplantar keratoderma and congenital alopecia Stevanovic type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
754361000241115 | kératodermie palmoplantaire et alopécie congénitale autosomique dominante (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
942261000172115 | kératodermie palmoplantaire et alopécie congénitale autosomique dominante | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
981861000172115 | hyperkératose palmoplantaire et alopécie congénitale autosomique dominante | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
3316666019 | A rare genetic skin disorder with the absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. To date, ten individuals have been reported. Usually presents during infancy with manifestations of fading of facial, scalp and body hair within the first months of life without subsequent re-growth. Body and facial keratosis pilaris are additional features that appear in the following years. Palmoplantar keratoderma develops during infancy and may have an unusual pattern. The genetic basis is unknown. Transmission appears to be autosomal dominant. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | localisation d'une constatation (attribut) | Hair structure (body structure) | true | Inferred relationship | Some | 1 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | morphologie associée (attribut) | Congenital absence | false | Inferred relationship | Some | 1 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | morphologie associée (attribut) | Hyperkeratosis | true | Inferred relationship | Some | 2 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 3 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | localisation d'une constatation (attribut) | Ectoderm structure | true | Inferred relationship | Some | 3 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | localisation d'une constatation (attribut) | structure de la peau | true | Inferred relationship | Some | 2 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 3 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | localisation d'une constatation (attribut) | Skin structure of sole of foot | true | Inferred relationship | Some | 4 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | morphologie associée (attribut) | Hyperkeratosis | true | Inferred relationship | Some | 5 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | morphologie associée (attribut) | Hyperkeratosis | true | Inferred relationship | Some | 4 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | localisation d'une constatation (attribut) | peau de la région palmaire de la main (structure corporelle) | true | Inferred relationship | Some | 5 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | morphologie associée (attribut) | Absence (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | est un(e) (attribut) | Congenital alopecia | true | Inferred relationship | Some | ||
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | est un(e) (attribut) | Ectodermal dysplasia | false | Inferred relationship | Some | ||
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | est un(e) (attribut) | Hereditary palmoplantar keratoderma | true | Inferred relationship | Some | ||
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | est un(e) (attribut) | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | est défini par la manifestation de (attribut) | Abnormal keratinisation | false | Inferred relationship | Some | ||
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 8 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 8 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 8 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 9 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | morphologie associée (attribut) | Hyperkeratosis | false | Inferred relationship | Some | 7 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 7 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | morphologie associée (attribut) | Congenital absence | false | Inferred relationship | Some | 9 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | localisation d'une constatation (attribut) | Hair structure (body structure) | false | Inferred relationship | Some | 9 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 6 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | localisation d'une constatation (attribut) | Ectoderm structure | false | Inferred relationship | Some | 6 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | est un(e) (attribut) | Congenital ectodermal defect | true | Inferred relationship | Some | ||
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | a pour interprétation (attribut) | anormal | false | Inferred relationship | Some | 4 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | interprète (attribut) | Keratinization, function (observable entity) | false | Inferred relationship | Some | 4 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets