Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3723701016 | Childhood-onset spasticity with hyperglycinemia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3723702011 | Childhood-onset spasticity with hyperglycinaemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3723703018 | Childhood-onset spasticity with hyperglycinemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3723704012 | Childhood-onset spasticity with variant non-ketotic hyperglycinaemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3723705013 | Spasticity, ataxia, gait anomalies syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3723706014 | Childhood-onset spasticity with variant non-ketotic hyperglycinemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3723707017 | A rare neurometabolic disease characterised by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinaemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3723708010 | A rare neurometabolic disease characterized by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 927801000172117 | spasticité de l'enfant avec une hyperglycinémie non cétosique | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 931971000172113 | syndrome spasticité, ataxie, anomalies de la marche | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Childhood-onset spasticity with hyperglycinemia (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 2 | |
| Childhood-onset spasticity with hyperglycinemia (disorder) | Interprets | Muscle tone | true | Inferred relationship | Some | 1 | |
| Childhood-onset spasticity with hyperglycinemia (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Childhood-onset spasticity with hyperglycinemia (disorder) | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Childhood-onset spasticity with hyperglycinemia (disorder) | Has interpretation | Increased | true | Inferred relationship | Some | 1 | |
| Childhood-onset spasticity with hyperglycinemia (disorder) | Is a | Chronic metabolic disorder | true | Inferred relationship | Some | ||
| Childhood-onset spasticity with hyperglycinemia (disorder) | Is a | Chronic nervous system disorder (disorder) | true | Inferred relationship | Some | ||
| Childhood-onset spasticity with hyperglycinemia (disorder) | Is a | Chronic disease of musculoskeletal system | true | Inferred relationship | Some | ||
| Childhood-onset spasticity with hyperglycinemia (disorder) | Is a | Non-ketotic hyperglycinaemia | true | Inferred relationship | Some | ||
| Childhood-onset spasticity with hyperglycinemia (disorder) | Is a | Spasticity | true | Inferred relationship | Some | ||
| Childhood-onset spasticity with hyperglycinemia (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 4 | |
| Childhood-onset spasticity with hyperglycinemia (disorder) | Is a | Hereditary ataxia (disorder) | true | Inferred relationship | Some | ||
| Childhood-onset spasticity with hyperglycinemia (disorder) | Is a | Mitochondrial myopathy | true | Inferred relationship | Some | ||
| Childhood-onset spasticity with hyperglycinemia (disorder) | Occurrence | Childhood | true | Inferred relationship | Some | 2 | |
| Childhood-onset spasticity with hyperglycinemia (disorder) | Occurrence | Childhood | true | Inferred relationship | Some | 3 | |
| Childhood-onset spasticity with hyperglycinemia (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Childhood-onset spasticity with hyperglycinemia (disorder) | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR