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 |
3308613015 | Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3308614014 | Keratoderma hereditarium mutilans with ichthyosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3308615010 | Camisa disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3308616011 | Keratoderma ichthyosiform dermatosis elevated beta-glucuronidase syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3308617019 | Vohwinkel ichthyosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401497017 | A rare diffuse, mutilating, hereditary palmoplantar keratoderma characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401498010 | A rare diffuse, mutilating, hereditary palmoplantar keratoderma characterised by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) | Is a | Congenital ichthyosis of skin | false | Inferred relationship | Some | ||
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) | Is a | Autosomal dominant mutilating keratoderma | false | Inferred relationship | Some | ||
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) | Has definitional manifestation | Abnormal keratinization | false | Inferred relationship | Some | ||
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 3 | |
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 3 | |
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) | Associated morphology | Hyperkeratosis | false | Inferred relationship | Some | 4 | |
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 4 | |
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) | Has interpretation | Abnormal | true | Inferred relationship | Some | 2 | |
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) | Interprets | Keratinization | true | Inferred relationship | Some | 2 | |
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 1 | |
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 1 | |
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) | Is a | Autosomal dominant ichthyosis (disorder) | true | Inferred relationship | Some | ||
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) | Is a | Erythrokeratodermia variabilis | false | Inferred relationship | Some | ||
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) | Finding site | Entire skin | true | Inferred relationship | Some | 1 | |
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) | Finding site | Skin structure of palmar area of hand | false | Inferred relationship | Some | 3 | |
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) | Interprets | Keratinization | false | Inferred relationship | Some | 3 | |
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) | Finding site | Skin structure of sole of foot (body structure) | false | Inferred relationship | Some | 4 | |
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) | Interprets | Keratinization | false | Inferred relationship | Some | 4 | |
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 5 | |
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) | Finding site | Skin structure of palmar area of hand | true | Inferred relationship | Some | 5 | |
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 6 | |
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) | Finding site | Skin structure of sole of foot (body structure) | true | Inferred relationship | Some | 6 | |
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) | Is a | Mutilating keratoderma | true | Inferred relationship | Some | ||
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 4 | |
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 3 | |
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) | Is a | Congenital keratoderma | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)