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773577009: Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome (disorder)


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
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
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
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
3448811001000112 Intraepitheliale korneale Dyskeratose-palmoplantare Hyperkeratose-laryngeale Dyskeratose-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
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 Switzerland NRC maintained Module
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 Switzerland NRC maintained Module
3448811001000112 Intraepitheliale korneale Dyskeratose-palmoplantare Hyperkeratose-laryngeale Dyskeratose-Syndrom 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
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome Is a Hereditary corneal dystrophy true Inferred relationship Existential restriction modifier (core metadata concept)
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 3
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome Finding site Corneal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome Is a Dysplasia of larynx true Inferred relationship Existential restriction modifier (core metadata concept)
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome Is a Hereditary disorder of the integument (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome Interprets Keratinisation true Inferred relationship Existential restriction modifier (core metadata concept) 1
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome Is a Hereditary diffuse palmoplantar keratoderma true Inferred relationship Existential restriction modifier (core metadata concept)
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome Finding site Laryngeal structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 2
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome Associated morphology Dyskeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 4
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 1
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome Finding site Skin structure of sole of foot (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome Associated morphology Hyperkeratosis true Inferred relationship Existential restriction modifier (core metadata concept) 5
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome Is a Keratosis (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome Finding site Skin structure of palmar area of hand false Inferred relationship Existential restriction modifier (core metadata concept) 5
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome Is a Inherited disorder of keratinisation true Inferred relationship Existential restriction modifier (core metadata concept)
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome Is a Rough skin (finding) false Inferred relationship Existential restriction modifier (core metadata concept)
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome Is a Rough skin of hands (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome Finding site Entire skin of palmar area of hand true Inferred relationship Existential restriction modifier (core metadata concept) 2
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome Finding site Entire skin of sole of foot true Inferred relationship Existential restriction modifier (core metadata concept) 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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