Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5146466015 | Spastic ataxia, dysarthria due to glutaminase deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5146467012 | Spastic ataxia, dysarthria due to glutaminase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5400378014 | A rare genetic neurometabolic disease characterized by childhood onset of global developmental delay, progressive spastic ataxia leading to loss of independent ambulation, and elevated plasma levels of glutamine. Optic atrophy, tremor, and dysarthria have also been reported. Brain imaging may show cerebellar atrophy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400379018 | A rare genetic neurometabolic disease characterised by childhood onset of global developmental delay, progressive spastic ataxia leading to loss of independent ambulation, and elevated plasma levels of glutamine. Optic atrophy, tremor, and dysarthria have also been reported. Brain imaging may show cerebellar atrophy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Spastic ataxia, dysarthria due to glutaminase deficiency (disorder) | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some | ||
| Spastic ataxia, dysarthria due to glutaminase deficiency (disorder) | Is a | Chronic nervous system disorder (disorder) | true | Inferred relationship | Some | ||
| Spastic ataxia, dysarthria due to glutaminase deficiency (disorder) | Is a | Chronic metabolic disorder | true | Inferred relationship | Some | ||
| Spastic ataxia, dysarthria due to glutaminase deficiency (disorder) | Is a | Disorder of glutamine metabolism | true | Inferred relationship | Some | ||
| Spastic ataxia, dysarthria due to glutaminase deficiency (disorder) | Is a | Global developmental delay | true | Inferred relationship | Some | ||
| Spastic ataxia, dysarthria due to glutaminase deficiency (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Spastic ataxia, dysarthria due to glutaminase deficiency (disorder) | Is a | Hereditary ataxia (disorder) | true | Inferred relationship | Some | ||
| Spastic ataxia, dysarthria due to glutaminase deficiency (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 2 | |
| Spastic ataxia, dysarthria due to glutaminase deficiency (disorder) | Due to | Deficiency of glutaminase (disorder) | true | Inferred relationship | Some | 5 | |
| Spastic ataxia, dysarthria due to glutaminase deficiency (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Spastic ataxia, dysarthria due to glutaminase deficiency (disorder) | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 3 | |
| Spastic ataxia, dysarthria due to glutaminase deficiency (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR