Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2023. 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 |
| 8260531000146116 | Leigh-syndroom met nefrotisch syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13362831000146114 | infantiele subacute necrotiserende encefalopathie met nefrotisch syndroom (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13362841000146118 | infantiele subacute necrotiserende encefalopathie met nefrotisch syndroom | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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 |
| infantiele subacute necrotiserende encefalopathie met nefrotisch syndroom (aandoening) | Interprets | Measurement of protein in urine (procedure) | false | Inferred relationship | Some | 3 | |
| infantiele subacute necrotiserende encefalopathie met nefrotisch syndroom (aandoening) | Associated morphology | degeneratie (afwijkende morfologie) | false | Inferred relationship | Some | 1 | |
| infantiele subacute necrotiserende encefalopathie met nefrotisch syndroom (aandoening) | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| infantiele subacute necrotiserende encefalopathie met nefrotisch syndroom (aandoening) | Is a | Leigh's disease | false | Inferred relationship | Some | ||
| infantiele subacute necrotiserende encefalopathie met nefrotisch syndroom (aandoening) | Is a | Mitochondrial encephalomyopathy (disorder) | false | Inferred relationship | Some | ||
| infantiele subacute necrotiserende encefalopathie met nefrotisch syndroom (aandoening) | Finding site | Brain structure | false | Inferred relationship | Some | 1 | |
| infantiele subacute necrotiserende encefalopathie met nefrotisch syndroom (aandoening) | Is a | Nephrotic syndrome | false | Inferred relationship | Some | ||
| infantiele subacute necrotiserende encefalopathie met nefrotisch syndroom (aandoening) | Is a | Hereditary nephropathy (disorder) | false | Inferred relationship | Some | ||
| infantiele subacute necrotiserende encefalopathie met nefrotisch syndroom (aandoening) | Has interpretation | Below reference range | false | Inferred relationship | Some | 2 | |
| infantiele subacute necrotiserende encefalopathie met nefrotisch syndroom (aandoening) | Has interpretation | Above reference range | false | Inferred relationship | Some | 3 | |
| infantiele subacute necrotiserende encefalopathie met nefrotisch syndroom (aandoening) | Is a | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
| infantiele subacute necrotiserende encefalopathie met nefrotisch syndroom (aandoening) | Interprets | Albumin measurement | false | Inferred relationship | Some | 2 | |
| infantiele subacute necrotiserende encefalopathie met nefrotisch syndroom (aandoening) | Finding site | Glomerulus structure | false | Inferred relationship | Some | 5 | |
| infantiele subacute necrotiserende encefalopathie met nefrotisch syndroom (aandoening) | Finding site | Skeletal muscle structure | false | Inferred relationship | Some | 4 | |
| infantiele subacute necrotiserende encefalopathie met nefrotisch syndroom (aandoening) | Associated morphology | Degenerative abnormality | false | Inferred relationship | Some | 1 | |
| infantiele subacute necrotiserende encefalopathie met nefrotisch syndroom (aandoening) | Is a | Metabolic renal disease | false | Inferred relationship | Some | ||
| infantiele subacute necrotiserende encefalopathie met nefrotisch syndroom (aandoening) | Is a | Hereditary myopathy (disorder) | false | Inferred relationship | Some | ||
| infantiele subacute necrotiserende encefalopathie met nefrotisch syndroom (aandoening) | Is a | Hereditary metabolic disease | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Concept inactivation indicator reference set
REPLACED BY association reference set (foundation metadata concept)
FHIR