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

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Abdominal organ finding\Kidney finding\Kidney disease\...

\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder)

\Metabolic renal disease\Renal tubular acidosis\Proximal renal tubular acidosis\Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder)

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Metabolic renal disease\Renal tubular acidosis\Proximal renal tubular acidosis\Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Renal tubular acidosis\Proximal renal tubular acidosis\Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Metabolic renal disease\Renal tubular acidosis\Proximal renal tubular acidosis\Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Metabolic renal disease\Renal tubular acidosis\Proximal renal tubular acidosis\Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Kidney finding\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Kidney finding\Kidney disease\Metabolic renal disease\Renal tubular acidosis\Proximal renal tubular acidosis\Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Renal tubular acidosis\Proximal renal tubular acidosis\Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Renal tubular acidosis\Proximal renal tubular acidosis\Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Metabolic renal disease\Renal tubular acidosis\Proximal renal tubular acidosis\Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Renal tubular acidosis\Proximal renal tubular acidosis\Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder)

\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Renal tubular acidosis\Proximal renal tubular acidosis\Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Metabolic renal disease\Renal tubular acidosis\Proximal renal tubular acidosis\Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Metabolic renal disease\Renal tubular acidosis\Proximal renal tubular acidosis\Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder)
\Disease\Metabolic disease\Metabolic disorder of transport\Renal tubular acidosis\Proximal renal tubular acidosis\Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder)
\Disease\Metabolic disease\Metabolic renal disease\Renal tubular acidosis\Proximal renal tubular acidosis\Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder)
\Disease\Metabolic disease\Disorder of acid-base balance\Acidosis\Metabolic acidosis\Metabolic acidosis, normal anion gap (NAG)\Renal tubular acidosis\Proximal renal tubular acidosis\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

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

11295091000172116 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) Belgian module (core metadata concept)

11295101000172112 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) Belgian module (core metadata concept)

4728131000172115 verworven syndroom van Fanconi geassocieerd met lichte ketens van monoklonale immunoglobulinen nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4728141000172110 verworven Fanconi-syndroom geassocieerd met lichte ketens van monoklonale immunoglobulinen nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder)	Is a	Acquired Fanconi syndrome	false	Inferred relationship	Some
Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder)	Finding site	Kidney structure	false	Inferred relationship	Some
Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder)	Occurrence	Middle age (qualifier value)	true	Inferred relationship	Some	1
Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder)	Finding site	Proximal convoluted renal tubule structure (body structure)	true	Inferred relationship	Some	1
Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder)	Is a	Proximal renal tubular acidosis	true	Inferred relationship	Some
Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder)	Is a	Renal tubular disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Belgian subset for nephrology in patient health records

Back to Start

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
11295091000172116	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)	Belgian module (core metadata concept)
11295101000172112	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)	Belgian module (core metadata concept)
4728131000172115	verworven syndroom van Fanconi geassocieerd met lichte ketens van monoklonale immunoglobulinen	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4728141000172110	verworven Fanconi-syndroom geassocieerd met lichte ketens van monoklonale immunoglobulinen	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)