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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 Reference Sets
3768166017 Palmoplantar keratoderma, spastic paralysis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3768167014 Palmoplantar keratoderma, spastic paralysis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3768168016 Powell Venencie Gordon syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
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 GB English: Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Palmoplantar keratoderma, spastic paralysis syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Palmoplantar keratoderma, spastic paralysis syndrome (disorder) Is a Punctate palmoplantar keratoderma (disorder) true Inferred relationship Some
Palmoplantar keratoderma, spastic paralysis syndrome (disorder) Is a Inherited disorder of keratinisation true Inferred relationship Some
Palmoplantar keratoderma, spastic paralysis syndrome (disorder) Is a Keratosis false Inferred relationship Some
Palmoplantar keratoderma, spastic paralysis syndrome (disorder) Is a Rough skin (finding) false Inferred relationship Some
Palmoplantar keratoderma, spastic paralysis syndrome (disorder) Is a Rough skin of hands true Inferred relationship Some
Palmoplantar keratoderma, spastic paralysis syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Some 1
Palmoplantar keratoderma, spastic paralysis syndrome (disorder) Finding site Skin structure false Inferred relationship Some 1
Palmoplantar keratoderma, spastic paralysis syndrome (disorder) Finding site Skin structure of sole of foot (body structure) true Inferred relationship Some 1
Palmoplantar keratoderma, spastic paralysis syndrome (disorder) Interprets Keratinization true Inferred relationship Some 2
Palmoplantar keratoderma, spastic paralysis syndrome (disorder) Has interpretation Abnormal true Inferred relationship Some 2
Palmoplantar keratoderma, spastic paralysis syndrome (disorder) Associated morphology Hyperkeratosis true Inferred relationship Some 3
Palmoplantar keratoderma, spastic paralysis syndrome (disorder) Finding site Skin structure of palmar area of hand true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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