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1222645005: Keratin 1-related diffuse nonepidermolytic palmoplantar keratoderma (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5048280017 KRT1-related diffuse nonepidermolytic keratoderma en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5048281018 Keratin 1-related diffuse nonepidermolytic palmoplantar keratoderma (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5048283015 Keratin 1-related diffuse nonepidermolytic palmoplantar keratoderma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5048284014 KRT1-related diffuse NEPPK (nonepidermolytic palmoplantar keratoderma) en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399978014 A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399979018 A rare, genetic, isolated diffuse palmoplantar keratoderma characterised by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5048280017 KRT1-related diffuse nonepidermolytic keratoderma en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5048281018 Keratin 1-related diffuse nonepidermolytic palmoplantar keratoderma (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5048283015 Keratin 1-related diffuse nonepidermolytic palmoplantar keratoderma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5048284014 KRT1-related diffuse NEPPK (nonepidermolytic palmoplantar keratoderma) en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5048285010 A rare genetic isolated diffuse palmoplantar keratoderma with characteristics of diffuse, mild to thick finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areola, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399978014 A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399979018 A rare, genetic, isolated diffuse palmoplantar keratoderma characterised by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3382571001000119 KRT1-assoziierte diffuse nichtepidermolytische Keratose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3382571001000119 KRT1-assoziierte diffuse nichtepidermolytische Keratose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
KRT1-related diffuse nonepidermolytic keratoderma Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
KRT1-related diffuse nonepidermolytic keratoderma Is a Hereditary diffuse palmoplantar keratoderma true Inferred relationship Existential restriction modifier (core metadata concept)
KRT1-related diffuse nonepidermolytic keratoderma Finding site Entire skin of palmar area of hand true Inferred relationship Existential restriction modifier (core metadata concept) 1
KRT1-related diffuse nonepidermolytic keratoderma Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 1
KRT1-related diffuse nonepidermolytic keratoderma Finding site Entire skin of sole of foot true Inferred relationship Existential restriction modifier (core metadata concept) 2
KRT1-related diffuse nonepidermolytic keratoderma Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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