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716105001: Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3304749017 Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3304750017 Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3304751018 Non-epidermolytic palmoplantar keratoderma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304752013 This syndrome has manifestation of a diffuse non-epidermolytic palmoplantar keratoderma with frequent fungal infections. Prevalence in the general population is estimated at 1 in 40,000 but is much higher in northern Sweden. Transmission is autosomal dominant and the causative gene has been localised to chromosome 12q11-q13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3304802010 This syndrome has manifestation of a diffuse non-epidermolytic palmoplantar keratoderma with frequent fungal infections. Prevalence in the general population is estimated at 1 in 40,000 but is much higher in northern Sweden. Transmission is autosomal dominant and the causative gene has been localized to chromosome 12q11-q13. 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 diffuse palmoplantar keratoderma Norrbotten type (disorder) localisation d'une constatation (attribut) Skin structure of sole of foot false Inferred relationship Some 1
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) morphologie associée (attribut) Hyperkeratosis true Inferred relationship Some 1
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) localisation d'une constatation (attribut) peau de la région palmaire de la main (structure corporelle) false Inferred relationship Some 2
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) morphologie associée (attribut) Hyperkeratosis true Inferred relationship Some 2
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) localisation d'une constatation (attribut) Entire skin of palmar area of hand true Inferred relationship Some 1
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) localisation d'une constatation (attribut) Entire skin of sole of foot true Inferred relationship Some 2
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) est un(e) (attribut) Hereditary disorder of the integument false Inferred relationship Some
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) est un(e) (attribut) Hereditary diffuse palmoplantar keratoderma (disorder) true Inferred relationship Some
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) est défini par la manifestation de (attribut) Abnormal keratinisation false Inferred relationship Some
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 3
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 4
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 3
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) survenue (attribut) congénital false Inferred relationship Some 3
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) morphologie associée (attribut) Hyperkeratosis false Inferred relationship Some 4
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) a pour interprétation (attribut) anormal false Inferred relationship Some 1
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) interprète (attribut) Keratinization, function (observable entity) false Inferred relationship Some 1

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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