Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3308301017 | Renal tubulopathy with encephalopathy and liver failure syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3308302012 | Renal tubulopathy with encephalopathy and liver failure syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5401479013 | Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome and that can be associated with encephalopathy and psychiatric disorders. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Renal tubulopathy with encephalopathy and liver failure syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Renal tubulopathy with encephalopathy and liver failure syndrome (disorder) | Is a | Multisystem disorder | false | Inferred relationship | Some | ||
Renal tubulopathy with encephalopathy and liver failure syndrome (disorder) | Is a | Metabolic and genetic disorder affecting the liver | true | Inferred relationship | Some | ||
Renal tubulopathy with encephalopathy and liver failure syndrome (disorder) | Is a | Disorder of mitochondrial respiratory chain complexes | true | Inferred relationship | Some | ||
Renal tubulopathy with encephalopathy and liver failure syndrome (disorder) | Is a | Mitochondrial cytopathy (disorder) | true | Inferred relationship | Some | ||
Renal tubulopathy with encephalopathy and liver failure syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
Renal tubulopathy with encephalopathy and liver failure syndrome (disorder) | Is a | Disorder of digestive system specific to fetus OR newborn | true | Inferred relationship | Some | ||
Renal tubulopathy with encephalopathy and liver failure syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Renal tubulopathy with encephalopathy and liver failure syndrome (disorder) | Finding site | Liver structure | true | Inferred relationship | Some | 2 | |
Renal tubulopathy with encephalopathy and liver failure syndrome (disorder) | Is a | Metabolic renal disease | true | Inferred relationship | Some | ||
Renal tubulopathy with encephalopathy and liver failure syndrome (disorder) | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some | ||
Renal tubulopathy with encephalopathy and liver failure syndrome (disorder) | Is a | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
Renal tubulopathy with encephalopathy and liver failure syndrome (disorder) | Is a | Metabolic encephalopathy | true | Inferred relationship | Some | ||
Renal tubulopathy with encephalopathy and liver failure syndrome (disorder) | Is a | Renal tubular disorder | true | Inferred relationship | Some | ||
Renal tubulopathy with encephalopathy and liver failure syndrome (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 3 | |
Renal tubulopathy with encephalopathy and liver failure syndrome (disorder) | Finding site | Renal tubule structure (body structure) | true | Inferred relationship | Some | 4 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)