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 |
3331135019 | Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3331136018 | Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3331137010 | This syndrome has characteristics of sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | true | Inferred relationship | Some | 2 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of skin | true | Inferred relationship | Some | ||
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) | morphologie associée (attribut) | Hyperkeratosis | true | Inferred relationship | Some | 2 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) | localisation d'une constatation (attribut) | Gonadal structure | true | Inferred relationship | Some | 1 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) | morphologie associée (attribut) | Hyperkeratosis | true | Inferred relationship | Some | 4 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) | morphologie associée (attribut) | Hyperkeratosis | true | Inferred relationship | Some | 3 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) | localisation d'une constatation (attribut) | peau de la région palmaire de la main (structure corporelle) | false | Inferred relationship | Some | 4 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) | localisation d'une constatation (attribut) | Skin structure of sole of foot | false | Inferred relationship | Some | 3 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) | localisation d'une constatation (attribut) | Entire skin of palmar area of hand | true | Inferred relationship | Some | 3 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) | localisation d'une constatation (attribut) | Entire skin of sole of foot | true | Inferred relationship | Some | 4 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) | est un(e) (attribut) | Gonadal dysgenesis | true | Inferred relationship | Some | ||
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) | est un(e) (attribut) | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) | est un(e) (attribut) | Hereditary diffuse palmoplantar keratoderma (disorder) | true | Inferred relationship | Some | ||
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) | est un(e) (attribut) | syndrome familial avec prédisposition aux cancers (trouble) | true | Inferred relationship | Some | ||
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) | est défini par la manifestation de (attribut) | Abnormal keratinisation | false | Inferred relationship | Some | ||
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 5 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 5 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 4 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) | localisation d'une constatation (attribut) | Gonadal structure | false | Inferred relationship | Some | 4 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 6 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) | morphologie associée (attribut) | Hyperkeratosis | false | Inferred relationship | Some | 6 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) | a pour interprétation (attribut) | anormal | false | Inferred relationship | Some | 3 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) | interprète (attribut) | Keratinization, function (observable entity) | false | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets