Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3763695011 | ARSAL - autosomal recessive spastic ataxia with leukoencephalopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3763696012 | Autosomal recessive spastic ataxia with leukoencephalopathy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3763697015 | Autosomal recessive spastic ataxia type 3 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3763698013 | Autosomal recessive spastic ataxia with leukoencephalopathy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3763699017 | SPAX3 - autosomal recessive spastic ataxia type 3 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3789567015 | Autosomal recessive spastic ataxia with leucoencephalopathy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3789568013 | ARSAL - autosomal recessive spastic ataxia with leucoencephalopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3763700016 | A rare genetic autosomal recessive spastic ataxia disease with characteristics of cerebellar ataxia, spasticity, cerebellar (and in some cases cerebral) atrophy, dystonia and leukoencephalopathy. Caused by homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3789569017 | A rare genetic autosomal recessive spastic ataxia disease with characteristics of cerebellar ataxia, spasticity, cerebellar (and in some cases cerebral) atrophy, dystonia and leucoencephalopathy. Caused by homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive spastic ataxia with leukoencephalopathy (disorder) | Is a | Hereditary ataxia (disorder) | true | Inferred relationship | Some | ||
| Autosomal recessive spastic ataxia with leukoencephalopathy (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive spastic ataxia with leukoencephalopathy (disorder) | Is a | Leukoencephalopathy | true | Inferred relationship | Some | ||
| Autosomal recessive spastic ataxia with leukoencephalopathy (disorder) | Is a | Cerebellar ataxia | true | Inferred relationship | Some | ||
| Autosomal recessive spastic ataxia with leukoencephalopathy (disorder) | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Autosomal recessive spastic ataxia with leukoencephalopathy (disorder) | Finding site | Cerebral white matter structure | true | Inferred relationship | Some | 2 | |
| Autosomal recessive spastic ataxia with leukoencephalopathy (disorder) | Finding site | Cerebellar structure | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR