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

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
5403234018 A rare monoclonal gammopathy characterized by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphatemia and hypouricemia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403235017 A rare monoclonal gammopathy characterised by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphataemia and hypouricaemia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
5403234018 A rare monoclonal gammopathy characterized by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphatemia and hypouricemia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403235017 A rare monoclonal gammopathy characterised by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphataemia and hypouricaemia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3417211001000117 Erworbenes monoklonales lg-Leichtketten-assoziiertes Fanconi-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5976591000241118 syndrome de Fanconi acquis associé à une chaine légère d'immunoglobuline monoclonale fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5976601000241113 syndrome de Fanconi avec une chaine légère d'immunoglobuline monoclonale acquis fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5976591000241118 syndrome de Fanconi acquis associé à une chaine légère d'immunoglobuline monoclonale fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5976601000241113 syndrome de Fanconi avec une chaine légère d'immunoglobuline monoclonale acquis fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3417211001000117 Erworbenes monoklonales lg-Leichtketten-assoziiertes Fanconi-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
A rare monoclonal gammopathy characterized by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphatemia and hypouricemia. Is a Acquired Fanconi syndrome false Inferred relationship Existential restriction modifier (core metadata concept)
A rare monoclonal gammopathy characterized by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphatemia and hypouricemia. Finding site Kidney structure false Inferred relationship Existential restriction modifier (core metadata concept)
A rare monoclonal gammopathy characterized by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphatemia and hypouricemia. Occurrence Middle age true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare monoclonal gammopathy characterized by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphatemia and hypouricemia. Finding site Proximal convoluted renal tubule structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare monoclonal gammopathy characterized by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphatemia and hypouricemia. Is a Proximal renal tubular acidosis true Inferred relationship Existential restriction modifier (core metadata concept)
A rare monoclonal gammopathy characterized by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphatemia and hypouricemia. Is a Renal tubular disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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