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723373006: Uromodulin related autosomal dominant tubulointerstitial kidney disease (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
5403026016 A form of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to UMOD mutations that is clinically characterized by bland urinalysis (absence of blood or protein in the urine), chronic kidney disease (CKD) leading to end-stage kidney disease (ESKD) between 20 and 80 years, and gout occurring in 50% of affected individuals. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403027013 A form of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to UMOD mutations that is clinically characterised by bland urinalysis (absence of blood or protein in the urine), chronic kidney disease (CKD) leading to end-stage kidney disease (ESKD) between 20 and 80 years, and gout occurring in 50% of affected individuals. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3447492018 Autosomal dominant medullary cystic kidney disease with hyperuricemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3447493011 Autosomal dominant medullary cystic kidney disease with hyperuricaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3447494017 Medullary cystic kidney disease 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3636195014 Uromodulin related autosomal dominant tubulointerstitial kidney disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3636196010 UMOD-related autosomal dominant tubulointerstitial kidney disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3636197018 Uromodulin related autosomal dominant tubulointerstitial kidney disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
888311000172113 maladie des kystes médullaires rénaux autosomique dominante type 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1010491000172112 néphropathie tubulo-interstitielle autosomique dominante associée à UMOD fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3381611001000118 Nierenerkrankung, tubulointerstitielle, autosomal-dominante, UMOD-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 form of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to UMOD mutations that is clinically characterized by bland urinalysis (absence of blood or protein in the urine), chronic kidney disease (CKD) leading to end-stage kidney disease (ESKD) between 20 and 80 years, and gout occurring in 50% of affected individuals. Is a A rare, genetic renal tubular disease characterized by tubular damage and interstitial fibrosis in absence of glomerular lesions and clinically manifesting with chronic kidney disease (CKD) and slow progression to end-stage kidney disease (ESKD). true Inferred relationship Some
A form of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to UMOD mutations that is clinically characterized by bland urinalysis (absence of blood or protein in the urine), chronic kidney disease (CKD) leading to end-stage kidney disease (ESKD) between 20 and 80 years, and gout occurring in 50% of affected individuals. Associated morphology Fibrocystic change true Inferred relationship Some 1
A form of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to UMOD mutations that is clinically characterized by bland urinalysis (absence of blood or protein in the urine), chronic kidney disease (CKD) leading to end-stage kidney disease (ESKD) between 20 and 80 years, and gout occurring in 50% of affected individuals. Finding site Structure of medulla of kidney true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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