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 |
| 3686396018 | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3686397010 | CLCN2-related leukoencephalopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3686398017 | Leukoencephalopathy with mild cerebellar ataxia and white matter edema (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3686399013 | Leukoencephalopathy with ataxia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3686401019 | CLCN2 (chloride voltage-gated channel 2) related leukoencephalopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3789583015 | CLCN2-related leucoencephalopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3789584014 | Leucoencephalopathy with mild cerebellar ataxia and white matter oedema | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3789585010 | CLCN2 (chloride voltage-gated channel 2) related leucoencephalopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3789586011 | Leucoencephalopathy with ataxia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3686402014 | A disorder of the white matter of the brain causing neurological problems, which can occur, anytime from childhood to adulthood. Characteristics of the disease include learning disabilities, retinopathy, atrophy of the optic nerves, spasticity, infertility in males, vertigo, tinnitus, hearing loss, paroxysmal kinesigenic dyskinesia and psychiatric disorders. In affected individuals, myelin becomes oedematous causing impaired nerve impulse transmission. Caused by mutations in the CLCN2 gene. Inherited in an autosomal recessive pattern. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3686403016 | A disorder of the white matter of the brain causing neurological problems, which can occur, anytime from childhood to adulthood. Characteristics of the disease include learning disabilities, retinopathy, atrophy of the optic nerves, spasticity, infertility in males, vertigo, tinnitus, hearing loss, paroxysmal kinesigenic dyskinesia and psychiatric disorders. In affected individuals, myelin becomes edematous causing impaired nerve impulse transmission. Caused by mutations in the CLCN2 gene. Inherited in an autosomal recessive pattern. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4152811000052118 | CLCN2-relaterad leukoencefalopati | sv | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| CLCN2-related leukoencephalopathy | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| CLCN2-related leukoencephalopathy | Is a | Leukoencephalopathy | true | Inferred relationship | Some | ||
| CLCN2-related leukoencephalopathy | Finding site | Cerebellar structure | true | Inferred relationship | Some | 1 | |
| CLCN2-related leukoencephalopathy | Is a | Cerebellar ataxia | true | Inferred relationship | Some | ||
| CLCN2-related leukoencephalopathy | Is a | Hereditary ataxia (disorder) | true | Inferred relationship | Some | ||
| CLCN2-related leukoencephalopathy | Finding site | Cerebral white matter structure | true | Inferred relationship | Some | 2 | |
| CLCN2-related leukoencephalopathy | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR