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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 Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering Is a Hereditary palmoplantar keratoderma true Inferred relationship Some
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering Finding site Skin structure false Inferred relationship Some 1
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering Has interpretation Abnormal true Inferred relationship Some 2
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering Associated morphology Hyperkeratosis true Inferred relationship Some 1
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering Interprets Keratinization true Inferred relationship Some 2
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering Is a Inherited disorder of keratinisation true Inferred relationship Some
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering Is a Keratosis false Inferred relationship Some
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering Associated morphology Hyperkeratosis true Inferred relationship Some 3
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering Finding site Skin structure of sole of foot (body structure) true Inferred relationship Some 1
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering Finding site Skin structure of palmar area of hand true Inferred relationship Some 3
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering Is a Rough skin (finding) false Inferred relationship Some
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering Is a 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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