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722202006: Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder)


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


0 descendants.

Expanded Value Set


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

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