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 |
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 |
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 | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
899261000172113 | ataxie spinocérébelleuse avec mouvements oculaires verticaux anormaux | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
942181000172117 | ataxie spinocérébelleuse type 37 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
918271000172118 | spinocerebellaire ataxie type 37 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
1009771000172110 | SCA37 - spinocerebellaire ataxie type 37 | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Spinocerebellar ataxia type 37 (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Spinocerebellar ataxia type 37 (disorder) | Is a | Hereditary cerebellar degeneration | false | Inferred relationship | Some | ||
Spinocerebellar ataxia type 37 (disorder) | Is a | Spinocerebellar ataxia | true | Inferred relationship | Some | ||
Spinocerebellar ataxia type 37 (disorder) | Associated morphology | Degeneration | false | Inferred relationship | Some | 2 | |
Spinocerebellar ataxia type 37 (disorder) | Associated morphology | Degeneration | false | Inferred relationship | Some | 3 | |
Spinocerebellar ataxia type 37 (disorder) | Finding site | Cerebellar structure | true | Inferred relationship | Some | 2 | |
Spinocerebellar ataxia type 37 (disorder) | Finding site | Spinal cord structure | false | Inferred relationship | Some | 3 | |
Spinocerebellar ataxia type 37 (disorder) | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
Spinocerebellar ataxia type 37 (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
Spinocerebellar ataxia type 37 (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets