Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3432877015 | Infantile onset spinocerebellar ataxia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3432878013 | Infantile onset spinocerebellar ataxia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3432879017 | Ohaha syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3432880019 | Ophthalmoplegia, hypotonia, ataxia, hypoacusis, athetosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5403283019 | Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Infantile onset spinocerebellar ataxia (disorder) | Is a | Hereditary cerebellar degeneration | false | Inferred relationship | Some | ||
Infantile onset spinocerebellar ataxia (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Infantile onset spinocerebellar ataxia (disorder) | Is a | Spinocerebellar ataxia | true | Inferred relationship | Some | ||
Infantile onset spinocerebellar ataxia (disorder) | Is a | Mitochondrial cytopathy (disorder) | true | Inferred relationship | Some | ||
Infantile onset spinocerebellar ataxia (disorder) | Associated morphology | Degeneration | false | Inferred relationship | Some | 3 | |
Infantile onset spinocerebellar ataxia (disorder) | Occurrence | Infancy | false | Inferred relationship | Some | 3 | |
Infantile onset spinocerebellar ataxia (disorder) | Finding site | Cerebellar structure | false | Inferred relationship | Some | 3 | |
Infantile onset spinocerebellar ataxia (disorder) | Associated morphology | Degeneration | false | Inferred relationship | Some | 4 | |
Infantile onset spinocerebellar ataxia (disorder) | Occurrence | Infancy | false | Inferred relationship | Some | 4 | |
Infantile onset spinocerebellar ataxia (disorder) | Finding site | Spinal cord structure | false | Inferred relationship | Some | 4 | |
Infantile onset spinocerebellar ataxia (disorder) | Occurrence | Infancy | true | Inferred relationship | Some | 1 | |
Infantile onset spinocerebellar ataxia (disorder) | Occurrence | Infancy | true | Inferred relationship | Some | 2 | |
Infantile onset spinocerebellar ataxia (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 2 | |
Infantile onset spinocerebellar ataxia (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
Infantile onset spinocerebellar ataxia (disorder) | Finding site | Spinal cord structure | true | Inferred relationship | Some | 2 | |
Infantile onset spinocerebellar ataxia (disorder) | Finding site | Cerebellar structure | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)