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 |
3308303019 | 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. The prevalence is unknown, several cases have been described, presentation is variable. Most of the characteristics of GRACILE syndrome are present but they are often less severe. Signs of disturbances in iron metabolism have been described. Most infants die during the neonatal period. In those who survive, encephalopathy and psychiatric disorders have been described. This disease is due to different mutations in the BCS1L gene (2q35) encoding a protein essential in the assembly of complex III in the mitochondrial respiratory chain. Inherited autosomal recessively. | en | Definition | Inactive | Entire term case sensitive (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)