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 |
3317497018 | Multiple epiphyseal dysplasia Beighton type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3317498011 | Multiple epiphyseal dysplasia Beighton type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3317499015 | Multiple epiphyseal dysplasia with myopia and deafness syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3317500012 | A skeletal dysplasia with characteristics of epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness and stubby digits. It has been described in one family in which the mother and three of her four children were affected. The condition is caused by a mutation in the COL2A1 gene (12q13.11-q13.2) and is transmitted in an autosomal dominant manner. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Multiple epiphyseal dysplasia Beighton type (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Multiple epiphyseal dysplasia Beighton type (disorder) | Is a | Multiple epiphyseal dysplasia | true | Inferred relationship | Some | ||
Multiple epiphyseal dysplasia Beighton type (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
Multiple epiphyseal dysplasia Beighton type (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
Multiple epiphyseal dysplasia Beighton type (disorder) | Finding site | Structure of epiphysis | false | Inferred relationship | Some | 2 | |
Multiple epiphyseal dysplasia Beighton type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Multiple epiphyseal dysplasia Beighton type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Multiple epiphyseal dysplasia Beighton type (disorder) | Finding site | Structure of epiphysis | true | Inferred relationship | Some | 1 | |
Multiple epiphyseal dysplasia Beighton type (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
Multiple epiphyseal dysplasia Beighton type (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
Multiple epiphyseal dysplasia Beighton type (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 2 | |
Multiple epiphyseal dysplasia Beighton type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Multiple epiphyseal dysplasia Beighton type (disorder) | Has interpretation | Decreased | true | Inferred relationship | Some | 3 | |
Multiple epiphyseal dysplasia Beighton type (disorder) | Finding site | Ear structure | true | Inferred relationship | Some | 4 | |
Multiple epiphyseal dysplasia Beighton type (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
Multiple epiphyseal dysplasia Beighton type (disorder) | Is a | Chronic disease of ear | false | Inferred relationship | Some | ||
Multiple epiphyseal dysplasia Beighton type (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 3 | |
Multiple epiphyseal dysplasia Beighton type (disorder) | Is a | Congenital conductive hearing loss | true | Inferred relationship | Some | ||
Multiple epiphyseal dysplasia Beighton type (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
Multiple epiphyseal dysplasia Beighton type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Multiple epiphyseal dysplasia Beighton type (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 5 | |
Multiple epiphyseal dysplasia Beighton type (disorder) | Is a | Chronic deafness | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets