Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3643799015 | KLICK syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3643800016 | Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3643801017 | Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
766541000241110 | syndrome de kératose linéaire-ichtyose congénitale-kératodermie sclérosante (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
902241000172110 | syndrome de kératose linéaire-ichtyose congénitale-kératodermie sclérosante | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
946331000172117 | syndrome KLICK (kératose linéaire, ichtyose congénitale, kératodermie sclérosante) | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
3643802012 | An inherited epidermal disorder with characteristics of palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities. The disease is caused by homozygous mutation in the POMP gene. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | localisation d'une constatation (attribut) | peau de la région palmaire de la main (structure corporelle) | false | Inferred relationship | Some | 2 | |
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | morphologie associée (attribut) | Hyperkeratosis | true | Inferred relationship | Some | 4 | |
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | est un(e) (attribut) | Erythrokeratodermia variabilis | false | Inferred relationship | Some | ||
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | localisation d'une constatation (attribut) | Skin structure of sole of foot | false | Inferred relationship | Some | 4 | |
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | localisation d'une constatation (attribut) | Entire skin | true | Inferred relationship | Some | 1 | |
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | est un(e) (attribut) | Hereditary diffuse palmoplantar keratoderma (disorder) | true | Inferred relationship | Some | ||
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | est un(e) (attribut) | Rough skin of hands | true | Inferred relationship | Some | ||
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | localisation d'une constatation (attribut) | Entire skin of palmar area of hand | true | Inferred relationship | Some | 2 | |
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | localisation d'une constatation (attribut) | Entire skin of sole of foot | true | Inferred relationship | Some | 4 | |
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | est un(e) (attribut) | Mutilating keratoderma | false | Inferred relationship | Some | ||
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | est un(e) (attribut) | Autosomal recessive ichthyosis (disorder) | true | Inferred relationship | Some | ||
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | a pour interprétation (attribut) | anormal | true | Inferred relationship | Some | 3 | |
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | interprète (attribut) | Keratinization, function (observable entity) | true | Inferred relationship | Some | 3 | |
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 2 | |
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 1 | |
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 2 | |
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | morphologie associée (attribut) | Hyperkeratosis | true | Inferred relationship | Some | 2 | |
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 1 | |
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | morphologie associée (attribut) | Hyperkeratosis | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets