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 |
3646023013 | Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3646024019 | Ataxia, delayed dentition, hypomyelination syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3646025018 | Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3646026017 | Syndrome with characteristics of ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far eight cases have been described. There is evidence that the disease is caused by homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | Is a | Congenital disease (disorder) | false | Inferred relationship | Some | ||
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | Is a | Leucodystrophy | false | Inferred relationship | Some | ||
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | Is a | Cerebral atrophy | true | Inferred relationship | Some | ||
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | Is a | Hereditary ataxia (disorder) | true | Inferred relationship | Some | ||
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | Associated morphology | Dystrophy | true | Inferred relationship | Some | 3 | |
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | Associated morphology | Myelin sheath alteration | true | Inferred relationship | Some | 2 | |
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | Associated morphology | Atrophy | true | Inferred relationship | Some | 1 | |
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | Finding site | Cerebrum | true | Inferred relationship | Some | 1 | |
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | Finding site | White matter structure of brain and spinal cord (body structure) | true | Inferred relationship | Some | 3 | |
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | Finding site | Myelinated nerve fiber structure | true | Inferred relationship | Some | 2 | |
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | Is a | Hereditary degenerative disease of central nervous system | false | Inferred relationship | Some | ||
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | Is a | 4H leukodystrophy (disorder) | true | Inferred relationship | Some | ||
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | Is a | Malformation of tooth (disorder) | true | Inferred relationship | Some | ||
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | Is a | Late tooth eruption | true | Inferred relationship | Some | ||
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | Finding site | Gonadal endocrine structure | true | Inferred relationship | Some | 5 | |
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | Finding site | Structure of pars distalis of pituitary (body structure) | true | Inferred relationship | Some | 6 | |
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | Finding site | Tooth structure | true | Inferred relationship | Some | 4 | |
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | Associated morphology | Maturation deceleration | true | Inferred relationship | Some | 4 | |
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | Interprets | Eruption of tooth | true | Inferred relationship | Some | 7 | |
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | Has interpretation | Abnormal | true | Inferred relationship | Some | 7 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Description inactivation indicator reference set