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724099000: Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder)


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


0 descendants.

Expanded Value Set


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

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