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722205008: kératodermie palmoplantaire type Nagashima (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3331144018 Palmoplantar keratoderma Nagashima type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3331145017 Palmoplantar keratoderma Nagashima type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
758351000241112 kératodermie palmoplantaire type Nagashima (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
903381000172117 hyperkératose palmoplantaire type Nagashima fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
994751000172111 kératodermie palmoplantaire type Nagashima fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3331147013 This disease is a non-syndromic diffuse palmoplantar keratoderma resembling a mild form of mal de Meleda. So far, it has been described in 20 individuals.Transmission is autosomal recessive. Evidence suggests this disease is caused by homozygous or compound heterozygous mutation in the SERPINB7 gene on chromosome 18q21. 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
Palmoplantar keratoderma Nagashima type (disorder) morphologie associée (attribut) Hyperkeratosis true Inferred relationship Some 2
Palmoplantar keratoderma Nagashima type (disorder) morphologie associée (attribut) Hyperkeratosis true Inferred relationship Some 1
Palmoplantar keratoderma Nagashima type (disorder) localisation d'une constatation (attribut) peau de la région palmaire de la main (structure corporelle) false Inferred relationship Some 1
Palmoplantar keratoderma Nagashima type (disorder) localisation d'une constatation (attribut) Skin structure of sole of foot false Inferred relationship Some 2
Palmoplantar keratoderma Nagashima type (disorder) localisation d'une constatation (attribut) Entire skin of sole of foot true Inferred relationship Some 1
Palmoplantar keratoderma Nagashima type (disorder) localisation d'une constatation (attribut) Entire skin of palmar area of hand true Inferred relationship Some 2
Palmoplantar keratoderma Nagashima type (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Palmoplantar keratoderma Nagashima type (disorder) est un(e) (attribut) Hereditary disorder of the integument false Inferred relationship Some
Palmoplantar keratoderma Nagashima type (disorder) est un(e) (attribut) Hereditary diffuse palmoplantar keratoderma (disorder) true Inferred relationship Some
Palmoplantar keratoderma Nagashima type (disorder) est défini par la manifestation de (attribut) Abnormal keratinisation false Inferred relationship Some
Palmoplantar keratoderma Nagashima type (disorder) morphologie associée (attribut) Hyperkeratosis false Inferred relationship Some 3
Palmoplantar keratoderma Nagashima type (disorder) survenue (attribut) congénital false Inferred relationship Some 3
Palmoplantar keratoderma Nagashima type (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 3
Palmoplantar keratoderma Nagashima type (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 4
Palmoplantar keratoderma Nagashima type (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Palmoplantar keratoderma Nagashima type (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 4
Palmoplantar keratoderma Nagashima type (disorder) est un(e) (attribut) Congenital disease false Inferred relationship Some
Palmoplantar keratoderma Nagashima type (disorder) interprète (attribut) Keratinization, function (observable entity) false Inferred relationship Some 2
Palmoplantar keratoderma Nagashima type (disorder) a pour interprétation (attribut) anormal false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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