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 |
3314998013 | Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3314999017 | Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3315000017 | Autosomal recessive palmoplantar keratoderma and congenital alopecia Wallis type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3315001018 | A rare genetic skin disorder with characteristics of congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. To date the syndrome has been reported in two families (seven affected individuals) plus an additional sporadic patient was likely affected by the same condition. 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. Skin thickening of palms and soles develops during infancy and may have an unusual pattern affecting the two sides of fingers and palms, but usually sparing the palmar surfaces. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | morphologie associée (attribut) | Congenital absence | false | Inferred relationship | Some | 1 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | localisation d'une constatation (attribut) | Ectoderm structure | true | Inferred relationship | Some | 2 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | localisation d'une constatation (attribut) | Hair structure (body structure) | true | Inferred relationship | Some | 1 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 2 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | localisation d'une constatation (attribut) | Skin structure of sole of foot | true | Inferred relationship | Some | 3 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | morphologie associée (attribut) | Hyperkeratosis | true | Inferred relationship | Some | 4 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | morphologie associée (attribut) | Hyperkeratosis | true | Inferred relationship | Some | 3 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | localisation d'une constatation (attribut) | peau de la région palmaire de la main (structure corporelle) | true | Inferred relationship | Some | 4 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | morphologie associée (attribut) | Absence (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | est un(e) (attribut) | Congenital alopecia | true | Inferred relationship | Some | ||
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | est un(e) (attribut) | Ectodermal dysplasia | false | Inferred relationship | Some | ||
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | est un(e) (attribut) | Hereditary palmoplantar keratoderma | true | Inferred relationship | Some | ||
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | est défini par la manifestation de (attribut) | Abnormal keratinisation | false | Inferred relationship | Some | ||
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 8 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 9 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 6 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | localisation d'une constatation (attribut) | Ectoderm structure | false | Inferred relationship | Some | 6 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | morphologie associée (attribut) | Hyperkeratosis | false | Inferred relationship | Some | 7 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 7 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 8 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 8 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | morphologie associée (attribut) | Congenital absence | false | Inferred relationship | Some | 9 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | localisation d'une constatation (attribut) | Hair structure (body structure) | false | Inferred relationship | Some | 9 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | est un(e) (attribut) | Congenital ectodermal defect | true | Inferred relationship | Some | ||
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | interprète (attribut) | Keratinization, function (observable entity) | false | Inferred relationship | Some | 3 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | a pour interprétation (attribut) | anormal | false | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets