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773577009: syndrome de dyskératose intraépithéliale cornéenne-kératodermie palmoplantaire-dyskératose laryngée (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3724264016 Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3724265015 Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
771641000241114 syndrome de dyskératose intraépithéliale cornéenne-kératodermie palmoplantaire-dyskératose laryngée (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
965921000172118 syndrome de dyskératose intraépithéliale cornéenne-kératodermie palmoplantaire-dyskératose laryngée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3724030012 A rare genetic corneal dystrophy disorder with characteristics of corneal opacification and dyskeratosis (which may cause visual impairment), associated with systemic features including palmoplantar hyperkeratosis, laryngeal dyskeratosis, pruritic hyperkeratotic scars, chronic rhinitis, dyshidrosis and/or nail thickening. 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
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome est un(e) (attribut) Hereditary corneal dystrophy true Inferred relationship Some
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome morphologie associée (attribut) Dystrophy (morphologic abnormality) true Inferred relationship Some 3
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome localisation d'une constatation (attribut) cornée (structure corporelle) true Inferred relationship Some 3
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome est un(e) (attribut) Dysplasia of larynx true Inferred relationship Some
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome est un(e) (attribut) Hereditary disorder of the integument false Inferred relationship Some
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome interprète (attribut) Keratinization, function (observable entity) true Inferred relationship Some 1
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome est un(e) (attribut) Hereditary diffuse palmoplantar keratoderma (disorder) true Inferred relationship Some
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome localisation d'une constatation (attribut) larynx (structure corporelle) true Inferred relationship Some 4
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome morphologie associée (attribut) Hyperkeratosis true Inferred relationship Some 2
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome morphologie associée (attribut) Dyskeratosis true Inferred relationship Some 4
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome a pour interprétation (attribut) anormal true Inferred relationship Some 1
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 2
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome localisation d'une constatation (attribut) Skin structure of sole of foot false Inferred relationship Some 2
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome morphologie associée (attribut) Hyperkeratosis true Inferred relationship Some 5
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome est un(e) (attribut) kératose false Inferred relationship Some
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome localisation d'une constatation (attribut) peau de la région palmaire de la main (structure corporelle) false Inferred relationship Some 5
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome est un(e) (attribut) Inherited disorder of keratinization true Inferred relationship Some
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome est un(e) (attribut) Rough skin (finding) false Inferred relationship Some
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome est un(e) (attribut) Rough skin of hands true Inferred relationship Some
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome localisation d'une constatation (attribut) Entire skin of palmar area of hand true Inferred relationship Some 2
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome localisation d'une constatation (attribut) Entire skin of sole of foot true Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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