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 |
3320893014 | Cardiomyopathy with cataract and hip spine disease syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3320894015 | Cardiomyopathy with cataract and hip spine disease syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3320895019 | Krasnow Qazi syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3321531012 | Describes the extremely rare triad of dilated cardiomyopathy, premature cataract and articular disease of the hips and spine with characteristics of hip joint degeneration, irregular intervertebral discs and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) | Is a | Disorder of joint of spine (disorder) | true | Inferred relationship | Some | ||
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) | Is a | Congestive cardiomyopathy (disorder) | true | Inferred relationship | Some | ||
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) | Is a | Nonsenile cataract (disorder) | true | Inferred relationship | Some | ||
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) | Is a | Disorder of hip joint (disorder) | true | Inferred relationship | Some | ||
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) | Finding site | Joint structure of spine | true | Inferred relationship | Some | 2 | |
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) | Finding site | Hip joint structure | true | Inferred relationship | Some | 3 | |
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) | Associated morphology | Dilatation | true | Inferred relationship | Some | 4 | |
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) | Finding site | Myocardium structure | true | Inferred relationship | Some | 4 | |
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) | Associated morphology | Cataract | false | Inferred relationship | Some | 5 | |
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) | Finding site | Lens clear | false | Inferred relationship | Some | 5 | |
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) | Associated morphology | Opacity | true | Inferred relationship | Some | 1 | |
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) | Finding site | Lens clear | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets