FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.21  |  FHIR Version n/a  User: [n/a]

783136007: Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3757791014 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3757792019 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3757793012 A rare genetic isolated focal palmoplantar keratoderma disease with characteristics of focal thickening of the skin of the soles and often of the palms, associated with minimal or no nail involvement. Patients frequently present non-epidermolytic painful plantar blistering and occasionally subtle oral leukokeratosis or plantar hyperhidrosis. Caused by heterozygous mutation in the KRT6C gene on chromosome 12q13. 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
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering est un(e) (attribut) Hereditary palmoplantar keratoderma true Inferred relationship Some
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 1
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering a pour interprétation (attribut) anormal true Inferred relationship Some 2
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering morphologie associée (attribut) Hyperkeratosis true Inferred relationship Some 1
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering interprète (attribut) Keratinization, function (observable entity) true Inferred relationship Some 2
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering est un(e) (attribut) Inherited disorder of keratinization true Inferred relationship Some
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering est un(e) (attribut) kératose false Inferred relationship Some
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering morphologie associée (attribut) Hyperkeratosis true Inferred relationship Some 3
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering localisation d'une constatation (attribut) Skin structure of sole of foot true Inferred relationship Some 1
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering localisation d'une constatation (attribut) peau de la région palmaire de la main (structure corporelle) true Inferred relationship Some 3
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering est un(e) (attribut) Rough skin (finding) false Inferred relationship Some
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering 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

Back to Start