Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3430716018 | Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder) | en | Fully specified name | Active | Initial character case insensitive | SNOMED CT core |
3430717010 | Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
3430718017 | Acquired Fanconi syndrome secondary to monoclonal gammopathy | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
3430719013 | In adults over 50 years of age, Fanconi syndrome is frequently related to the urinary secretion of a monoclonal immunoglobulin (Ig) light chain (LC), almost always of the kappa isotype. Prevalence is unknown but around 100 cases have been described in the literature so far. Onset occurs during adulthood: bone pain related to osteomalacia secondary to hypophosphatemia and progressive chronic renal failure are the usual manifestations. These manifestations may precede the diagnosis of a slowly progressive plasma cell disorder by several years. In most cases, the monoclonal kappa light chain is restricted to the V kappa-1 subgroup and bears non-polar or hydrophobic mutations in the variable domain, which induce resistance to cathepsin proteolysis in the proximal tubular cells and promote crystallization of the variable domain within the endolysosomal compartment. | en | Definition | Active | Case sensitive | SNOMED CT core |
3430720019 | In adults over 50 years of age, Fanconi syndrome is frequently related to the urinary secretion of a monoclonal immunoglobulin (Ig) light chain (LC), almost always of the kappa isotype. Prevalence is unknown but around 100 cases have been described in the literature so far. Onset occurs during adulthood: bone pain related to osteomalacia secondary to hypophosphataemia and progressive chronic renal failure are the usual manifestations. These manifestations may precede the diagnosis of a slowly progressive plasma cell disorder by several years. In most cases, the monoclonal kappa light chain is restricted to the V kappa-1 subgroup and bears non-polar or hydrophobic mutations in the variable domain, which induce resistance to cathepsin proteolysis in the proximal tubular cells and promote crystallisation of the variable domain within the endolysosomal compartment. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome | Is a | Acquired Fanconi syndrome | false | Inferred relationship | Some | ||
Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome | Finding site | Kidney structure | false | Inferred relationship | Some | ||
Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome | Occurrence | Middle age | true | Inferred relationship | Some | 1 | |
Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome | Finding site | Proximal convoluted renal tubule structure | true | Inferred relationship | Some | 1 | |
Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome | Is a | Proximal renal tubular acidosis | true | Inferred relationship | Some | ||
Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome | Is a | Renal tubular disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set