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 |
3757872018 | Leigh syndrome with nephrotic syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3757873011 | Infantile subacute necrotizing encephalopathy with nephrotic syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3757874017 | Leigh disease with nephrotic syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3757875016 | Infantile subacute necrotising encephalopathy with nephrotic syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3757876015 | Leigh syndrome with nephrotic syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3757877012 | A rare genetic neurometabolic disease with characteristics of encephalomyopathy (including developmental delay, nystagmus, progressive ataxia, dystonia, amyotrophy, visual loss, sensorineural deafness, seizures) and bilateral symmetrical lesions in the basal ganglia or brainstem on imaging, associated with nephrotic syndrome. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Leigh syndrome with nephrotic syndrome (disorder) | Interprets | Measurement of protein in urine (procedure) | true | Inferred relationship | Some | 3 | |
Leigh syndrome with nephrotic syndrome (disorder) | Associated morphology | dégénérescence | false | Inferred relationship | Some | 1 | |
Leigh syndrome with nephrotic syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Leigh syndrome with nephrotic syndrome (disorder) | Is a | Leigh's disease | true | Inferred relationship | Some | ||
Leigh syndrome with nephrotic syndrome (disorder) | Is a | Mitochondrial encephalomyopathy (disorder) | true | Inferred relationship | Some | ||
Leigh syndrome with nephrotic syndrome (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 1 | |
Leigh syndrome with nephrotic syndrome (disorder) | Is a | Nephrotic syndrome | true | Inferred relationship | Some | ||
Leigh syndrome with nephrotic syndrome (disorder) | Is a | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
Leigh syndrome with nephrotic syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 2 | |
Leigh syndrome with nephrotic syndrome (disorder) | Has interpretation | Above reference range | true | Inferred relationship | Some | 3 | |
Leigh syndrome with nephrotic syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Leigh syndrome with nephrotic syndrome (disorder) | Interprets | Albumin measurement | true | Inferred relationship | Some | 2 | |
Leigh syndrome with nephrotic syndrome (disorder) | Finding site | Glomerulus structure | true | Inferred relationship | Some | 5 | |
Leigh syndrome with nephrotic syndrome (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 4 | |
Leigh syndrome with nephrotic syndrome (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
Leigh syndrome with nephrotic syndrome (disorder) | Is a | Metabolic renal disease | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets