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778051008: kératodermie palmoplantaire focale avec kératose localisée aux articulations (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3737517018 Focal palmoplantar keratoderma with joint keratoses (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3737518011 Focal palmoplantar keratoderma with joint keratoses en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
785341000241112 kératodermie palmoplantaire focale avec kératose localisée aux articulations (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
915611000172119 kératodermie palmoplantaire focale avec kératose localisée aux articulations fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3737519015 A rare genetic isolated palmoplantar keratoderma disorder with characteristics of focal hyperkeratotic lesions affecting the pressure and mechanical trauma bearing areas of the palms and soles, as well as hyperkeratotic plaques involving joints, including knees, elbows, ankles and dorsa of interphalangeal joints. Caused by heterozygous mutation in the DSG1 gene on chromosome 18q12. 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
Focal palmoplantar keratoderma with joint keratoses (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Focal palmoplantar keratoderma with joint keratoses (disorder) est un(e) (attribut) Hereditary palmoplantar keratoderma true Inferred relationship Some
Focal palmoplantar keratoderma with joint keratoses (disorder) a pour interprétation (attribut) anormal true Inferred relationship Some 2
Focal palmoplantar keratoderma with joint keratoses (disorder) morphologie associée (attribut) Hyperkeratosis true Inferred relationship Some 1
Focal palmoplantar keratoderma with joint keratoses (disorder) est un(e) (attribut) Hereditary disorder of the integument false Inferred relationship Some
Focal palmoplantar keratoderma with joint keratoses (disorder) interprète (attribut) Keratinization, function (observable entity) true Inferred relationship Some 2
Focal palmoplantar keratoderma with joint keratoses (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 1
Focal palmoplantar keratoderma with joint keratoses (disorder) localisation d'une constatation (attribut) peau de la région palmaire de la main (structure corporelle) true Inferred relationship Some 3
Focal palmoplantar keratoderma with joint keratoses (disorder) est un(e) (attribut) Inherited disorder of keratinization true Inferred relationship Some
Focal palmoplantar keratoderma with joint keratoses (disorder) morphologie associée (attribut) Hyperkeratosis true Inferred relationship Some 3
Focal palmoplantar keratoderma with joint keratoses (disorder) est un(e) (attribut) kératose false Inferred relationship Some
Focal palmoplantar keratoderma with joint keratoses (disorder) localisation d'une constatation (attribut) Skin structure of sole of foot true Inferred relationship Some 1
Focal palmoplantar keratoderma with joint keratoses (disorder) est un(e) (attribut) Rough skin (finding) false Inferred relationship Some
Focal palmoplantar keratoderma with joint keratoses (disorder) est un(e) (attribut) Rough skin of hands true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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