Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3430717010 | Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3430718017 | Acquired Fanconi syndrome secondary to monoclonal gammopathy | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder) | est un(e) (attribut) | Acquired Fanconi syndrome | false | Inferred relationship | Some | ||
| Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder) | localisation d'une constatation (attribut) | structure d'un rein | false | Inferred relationship | Some | ||
| Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder) | survenue (attribut) | Middle age (qualifier value) | true | Inferred relationship | Some | 1 | |
| Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder) | localisation d'une constatation (attribut) | Proximal convoluted renal tubule structure | true | Inferred relationship | Some | 1 | |
| Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder) | est un(e) (attribut) | acidose tubulaire rénale proximale (trouble) | true | Inferred relationship | Some | ||
| Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder) | est un(e) (attribut) | Renal tubular disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR