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721840000: Hyperuricemia, anemia, renal failure syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5402702015 A rare autosomal dominant tubulointerstitial kidney disease (ADTKD) of childhood due to REN mutations and characterized by early onset hypoproliferative anemia, hyperuricemia, gout, and slowly progressive tubulointerstitial kidney disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402703013 A rare autosomal dominant tubulointerstitial kidney disease (ADTKD) of childhood due to REN mutations and characterised by early onset hypoproliferative anaemia, hyperuricaemia, gout, and slowly progressive tubulointerstitial kidney disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3326212015 Hyperuricemia, anemia, renal failure syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3326213013 Hyperuricemia, anemia, renal failure syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3326214019 Hyperuricaemia, anaemia, renal failure syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3326215018 Familial juvenile hyperuricemic nephropathy type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3326216017 Familial juvenile hyperuricaemic nephropathy type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3326217014 Renin associated familial juvenile hyperuricemic nephropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3326218016 Renin associated familial juvenile hyperuricaemic nephropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6276361000241119 syndrome d'hyperuricémie, anémie et insuffisance rénale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6276371000241110 néphropathie tubulo-interstitielle autosomique dominante associée à la rénine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6276381000241112 néphropathie hyperuricémique juvénile familiale de type 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3395431001000110 Nierenkrankheit, tubulointerstitielle, autosomal-dominante, REN-assoziierte 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 autosomal dominant tubulointerstitial kidney disease (ADTKD) of childhood due to REN mutations and characterized by early onset hypoproliferative anemia, hyperuricemia, gout, and slowly progressive tubulointerstitial kidney disease. Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some
A rare autosomal dominant tubulointerstitial kidney disease (ADTKD) of childhood due to REN mutations and characterized by early onset hypoproliferative anemia, hyperuricemia, gout, and slowly progressive tubulointerstitial kidney disease. Is a Hyperuricemia true Inferred relationship Some
A rare autosomal dominant tubulointerstitial kidney disease (ADTKD) of childhood due to REN mutations and characterized by early onset hypoproliferative anemia, hyperuricemia, gout, and slowly progressive tubulointerstitial kidney disease. Is a Renal tubular disorder true Inferred relationship Some
A rare autosomal dominant tubulointerstitial kidney disease (ADTKD) of childhood due to REN mutations and characterized by early onset hypoproliferative anemia, hyperuricemia, gout, and slowly progressive tubulointerstitial kidney disease. Is a Urate nephropathy true Inferred relationship Some
A rare autosomal dominant tubulointerstitial kidney disease (ADTKD) of childhood due to REN mutations and characterized by early onset hypoproliferative anemia, hyperuricemia, gout, and slowly progressive tubulointerstitial kidney disease. Is a Hereditary nephropathy (disorder) true Inferred relationship Some
A rare autosomal dominant tubulointerstitial kidney disease (ADTKD) of childhood due to REN mutations and characterized by early onset hypoproliferative anemia, hyperuricemia, gout, and slowly progressive tubulointerstitial kidney disease. Finding site Renal tubule structure true Inferred relationship Some 1
A rare autosomal dominant tubulointerstitial kidney disease (ADTKD) of childhood due to REN mutations and characterized by early onset hypoproliferative anemia, hyperuricemia, gout, and slowly progressive tubulointerstitial kidney disease. Finding site Kidney structure false Inferred relationship Some 2
A rare autosomal dominant tubulointerstitial kidney disease (ADTKD) of childhood due to REN mutations and characterized by early onset hypoproliferative anemia, hyperuricemia, gout, and slowly progressive tubulointerstitial kidney disease. Causative agent (attribute) Urate false Inferred relationship Some 2
A rare autosomal dominant tubulointerstitial kidney disease (ADTKD) of childhood due to REN mutations and characterized by early onset hypoproliferative anemia, hyperuricemia, gout, and slowly progressive tubulointerstitial kidney disease. Causative agent (attribute) Urate true Inferred relationship Some 1
A rare autosomal dominant tubulointerstitial kidney disease (ADTKD) of childhood due to REN mutations and characterized by early onset hypoproliferative anemia, hyperuricemia, gout, and slowly progressive tubulointerstitial kidney disease. Interprets Blood urate measurement true Inferred relationship Some 2
A rare autosomal dominant tubulointerstitial kidney disease (ADTKD) of childhood due to REN mutations and characterized by early onset hypoproliferative anemia, hyperuricemia, gout, and slowly progressive tubulointerstitial kidney disease. Has interpretation Above reference range true Inferred relationship Some 2
A rare autosomal dominant tubulointerstitial kidney disease (ADTKD) of childhood due to REN mutations and characterized by early onset hypoproliferative anemia, hyperuricemia, gout, and slowly progressive tubulointerstitial kidney disease. Occurrence Childhood true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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