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 |
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