Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3638642017 | Autosomal recessive cerebellar ataxia due to GBA2 (glucosylceramidase beta 2) deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3638643010 | Autosomal recessive cerebellar ataxia with late-onset spasticity | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3638644016 | Autosomal recessive cerebellar ataxia with late-onset spasticity (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6434461000146116 | autosomaal recessieve cerebellaire ataxie door GBA2-deficiëntie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6701321000146118 | autosomaal recessieve cerebellaire ataxie met laat optredende spasticiteit | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6701331000146116 | autosomaal recessieve cerebellaire ataxie met laat optredende spasticiteit (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3638645015 | A rare genetic neurodegenerative disease with childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliosis and abnormalities of the brain (e.g. cerebral atrophy) may also be associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive cerebellar ataxia with late-onset spasticity | Is a | Cerebellar ataxia | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia with late-onset spasticity | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia with late-onset spasticity | Is a | Sphingolipidosis | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia with late-onset spasticity | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia with late-onset spasticity | Finding site | Cerebellar structure | true | Inferred relationship | Some | 1 | |
| Autosomal recessive cerebellar ataxia with late-onset spasticity | Is a | Hereditary ataxia (disorder) | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia with late-onset spasticity | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia with late-onset spasticity | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Autosomal recessive cerebellar ataxia with late-onset spasticity | Is a | Hereditary metabolic disease | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Description inactivation indicator reference set
FHIR