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785725008: Palmoplantar keratoderma, spastic paralysis syndrome (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
3768166017 Palmoplantar keratoderma, spastic paralysis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3768167014 Palmoplantar keratoderma, spastic paralysis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3768168016 Powell Venencie Gordon syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3768169012 A rare genetic punctate palmoplantar keratoderma disease with characteristics of discrete focal punctate keratoderma on the palms and soles and/or slowly progressive spastic paralysis, predominantly affecting the lower limbs. Lesional histology reveals pronounced orthokeratosis, acanthosis, papillomatosis, and regular undulation to the surface keratin. There have been no further descriptions in the literature since 1983. 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, spastic paralysis syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Palmoplantar keratoderma, spastic paralysis syndrome (disorder) interprète (attribut) Keratinization, function (observable entity) true Inferred relationship Some 2
Palmoplantar keratoderma, spastic paralysis syndrome (disorder) morphologie associée (attribut) Hyperkeratosis true Inferred relationship Some 1
Palmoplantar keratoderma, spastic paralysis syndrome (disorder) est un(e) (attribut) Punctate palmoplantar keratoderma (disorder) true Inferred relationship Some
Palmoplantar keratoderma, spastic paralysis syndrome (disorder) a pour interprétation (attribut) anormal true Inferred relationship Some 2
Palmoplantar keratoderma, spastic paralysis syndrome (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 1
Palmoplantar keratoderma, spastic paralysis syndrome (disorder) est un(e) (attribut) Inherited disorder of keratinization true Inferred relationship Some
Palmoplantar keratoderma, spastic paralysis syndrome (disorder) localisation d'une constatation (attribut) Skin structure of sole of foot true Inferred relationship Some 1
Palmoplantar keratoderma, spastic paralysis syndrome (disorder) morphologie associée (attribut) Hyperkeratosis true Inferred relationship Some 3
Palmoplantar keratoderma, spastic paralysis syndrome (disorder) est un(e) (attribut) kératose false Inferred relationship Some
Palmoplantar keratoderma, spastic paralysis syndrome (disorder) localisation d'une constatation (attribut) peau de la région palmaire de la main (structure corporelle) true Inferred relationship Some 3
Palmoplantar keratoderma, spastic paralysis syndrome (disorder) est un(e) (attribut) Rough skin (finding) false Inferred relationship Some
Palmoplantar keratoderma, spastic paralysis syndrome (disorder) est un(e) (attribut) Rough skin of hands true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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