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717228004: kératodermie palmoplantaire héréditaire type Gamborg-Nielsen (trouble)


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
3308744016 Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3308745015 Hereditary palmoplantar keratoderma Gamborg Nielsen type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
750771000241116 kératodermie palmoplantaire héréditaire type Gamborg-Nielsen (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
872031000172114 kératodermie palmoplantaire héréditaire type Gamborg-Nielsen fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
885841000172112 hyperkératose palmoplantaire héréditaire type Gamborg-Nielsen fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3308746019 The presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive. 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
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) morphologie associée (attribut) Hyperkeratosis true Inferred relationship Some 2
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) morphologie associée (attribut) Hyperkeratosis true Inferred relationship Some 1
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) localisation d'une constatation (attribut) Skin structure of sole of foot false Inferred relationship Some 1
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) localisation d'une constatation (attribut) peau de la région palmaire de la main (structure corporelle) false Inferred relationship Some 2
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) localisation d'une constatation (attribut) Entire skin of palmar area of hand true Inferred relationship Some 1
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) localisation d'une constatation (attribut) Entire skin of sole of foot true Inferred relationship Some 2
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) est un(e) (attribut) Hereditary disorder of the integument false Inferred relationship Some
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) est un(e) (attribut) Hereditary diffuse palmoplantar keratoderma (disorder) true Inferred relationship Some
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) est défini par la manifestation de (attribut) Abnormal keratinisation false Inferred relationship Some
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 3
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 4
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 3
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) survenue (attribut) congénital false Inferred relationship Some 3
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) morphologie associée (attribut) Hyperkeratosis false Inferred relationship Some 4
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) a pour interprétation (attribut) anormal false Inferred relationship Some 1
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) interprète (attribut) Keratinization, function (observable entity) false Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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