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 |
3315916017 | Disease with characteristics of cerebellar syndrome along with altered vertical eye movements. Reported in nine members of Spanish kindred to date. Disease onset occurs in adulthood (from the ages of 38-64). Clinical manifestations are slowly progressive cerebellar ataxia (starting with falls, dysarthria and clumsiness followed by other cerebellar signs) along with altered vertical eye movements. The causal gene is unknown but it has been mapped to chromosome 1p32 and named the SCA37 locus. Inherited in an autosomal dominant manner. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402064012 | An autosomal dominant cerebellar ataxia type 1 that is characterized by a cerebellar syndrome along with altered vertical eye movements. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402065013 | An autosomal dominant cerebellar ataxia type 1 that is characterised by a cerebellar syndrome along with altered vertical eye movements. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3315913013 | Spinocerebellar ataxia type 37 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3315914019 | Spinocerebellar ataxia type 37 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3315915018 | Spinocerebellar ataxia with altered vertical eye movement | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
An autosomal dominant cerebellar ataxia type 1 that is characterized by a cerebellar syndrome along with altered vertical eye movements. | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
An autosomal dominant cerebellar ataxia type 1 that is characterized by a cerebellar syndrome along with altered vertical eye movements. | Is a | Hereditary cerebellar degeneration | false | Inferred relationship | Some | ||
An autosomal dominant cerebellar ataxia type 1 that is characterized by a cerebellar syndrome along with altered vertical eye movements. | Is a | Spinocerebellar ataxia | true | Inferred relationship | Some | ||
An autosomal dominant cerebellar ataxia type 1 that is characterized by a cerebellar syndrome along with altered vertical eye movements. | Associated morphology | Degeneration | false | Inferred relationship | Some | 2 | |
An autosomal dominant cerebellar ataxia type 1 that is characterized by a cerebellar syndrome along with altered vertical eye movements. | Associated morphology | Degeneration | false | Inferred relationship | Some | 3 | |
An autosomal dominant cerebellar ataxia type 1 that is characterized by a cerebellar syndrome along with altered vertical eye movements. | Finding site | Cerebellar structure | true | Inferred relationship | Some | 2 | |
An autosomal dominant cerebellar ataxia type 1 that is characterized by a cerebellar syndrome along with altered vertical eye movements. | Finding site | Spinal cord structure | false | Inferred relationship | Some | 3 | |
An autosomal dominant cerebellar ataxia type 1 that is characterized by a cerebellar syndrome along with altered vertical eye movements. | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
An autosomal dominant cerebellar ataxia type 1 that is characterized by a cerebellar syndrome along with altered vertical eye movements. | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
An autosomal dominant cerebellar ataxia type 1 that is characterized by a cerebellar syndrome along with altered vertical eye movements. | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
Description inactivation indicator reference set