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724099000: verworven Fanconi-syndroom geassocieerd met lichte ketens van monoklonale immunoglobulinen (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: module van internationale editie (metadata)

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
3430716018 Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder) en volledig gespecificeerde naam (metadata) Active alleen eerste karakter niet-hoofdlettergevoelig module van internationale editie (metadata) Brits-Engelse taalreferentieset: voorkeursterm
3430717010 Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome en synoniem (metadata) Active alleen eerste karakter niet-hoofdlettergevoelig module van internationale editie (metadata) Brits-Engelse taalreferentieset: voorkeursterm
3430718017 Acquired Fanconi syndrome secondary to monoclonal gammopathy en synoniem (metadata) Active alleen eerste karakter niet-hoofdlettergevoelig module van internationale editie (metadata) Brits-Engelse taalreferentieset: acceptabel
7053621000146116 verworven syndroom van Fanconi geassocieerd met lichte ketens van monoklonale immunoglobulinen nl synoniem (metadata) Active alleen eerste karakter niet-hoofdlettergevoelig SNOMED CT Netherlands NRC maintained module (core metadata concept) Netherlands Dutch language reference set: acceptabel
8900501000146112 verworven Fanconi-syndroom geassocieerd met lichte ketens van monoklonale immunoglobulinen (aandoening) nl volledig gespecificeerde naam (metadata) Active alleen eerste karakter niet-hoofdlettergevoelig SNOMED CT Netherlands NRC maintained module (core metadata concept) Netherlands Dutch language reference set: voorkeursterm
8900511000146114 verworven Fanconi-syndroom geassocieerd met lichte ketens van monoklonale immunoglobulinen nl synoniem (metadata) Active alleen eerste karakter niet-hoofdlettergevoelig SNOMED CT Netherlands NRC maintained module (core metadata concept) Netherlands Dutch language reference set: voorkeursterm
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 tekstdefinitie (metadata) Active gehele beschrijving hoofdlettergevoelig module van internationale editie (metadata) Amerikaans-Engelse taalreferentieset (metadata): voorkeursterm
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 tekstdefinitie (metadata) Active gehele beschrijving hoofdlettergevoelig module van internationale editie (metadata) Brits-Engelse taalreferentieset: voorkeursterm

0 descendants.

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 geïnfereerde relatie existentiële restrictie (metadata)
Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder) locatie van bevinding structuur van nier (lichaamsstructuur) false geïnfereerde relatie existentiële restrictie (metadata)
Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder) Occurrence Middle age (qualifier value) true geïnfereerde relatie existentiële restrictie (metadata) 1
Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder) locatie van bevinding structuur van tubulus renalis contortus proximalis true geïnfereerde relatie existentiële restrictie (metadata) 1
Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder) Is a proximale renale tubulaire acidose true geïnfereerde relatie existentiële restrictie (metadata)
Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome (disorder) Is a Renal tubular disorder true geïnfereerde relatie existentiële restrictie (metadata)

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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