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726017001: Mucin 1 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
3447488013 Autosomal dominant medullary cystic kidney disease without hyperuricemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3447489017 Autosomal dominant medullary cystic kidney disease without hyperuricaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3447490014 Medullary cystic kidney disease 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3636198011 Mucin 1 related autosomal dominant tubulointerstitial kidney disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3636199015 MUC1-related autosomal dominant tubulointerstitial kidney disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3636200017 Mucin 1 related autosomal dominant tubulointerstitial kidney disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403512019 A rare autosomal dominant tubulointerstitial kidney (ADTKD) disease due to MUC1 mutations characterized clinically by a bland urinalysis (absence of blood or protein in the urine), and chronic kidney disease leading to end-stage kidney disease (ESKD) between 20 and 80 years. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403513012 A rare autosomal dominant tubulointerstitial kidney (ADTKD) disease due to MUC1 mutations characterised clinically by a bland urinalysis (absence of blood or protein in the urine), and chronic kidney disease leading to end-stage kidney disease (ESKD) between 20 and 80 years. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3447487015 Autosomal dominant medullary cystic kidney disease without hyperuricemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3447488013 Autosomal dominant medullary cystic kidney disease without hyperuricemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3447489017 Autosomal dominant medullary cystic kidney disease without hyperuricaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3447490014 Medullary cystic kidney disease 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3636198011 Mucin 1 related autosomal dominant tubulointerstitial kidney disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3636199015 MUC1-related autosomal dominant tubulointerstitial kidney disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3636200017 Mucin 1 related autosomal dominant tubulointerstitial kidney disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403512019 A rare autosomal dominant tubulointerstitial kidney (ADTKD) disease due to MUC1 mutations characterized clinically by a bland urinalysis (absence of blood or protein in the urine), and chronic kidney disease leading to end-stage kidney disease (ESKD) between 20 and 80 years. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403513012 A rare autosomal dominant tubulointerstitial kidney (ADTKD) disease due to MUC1 mutations characterised clinically by a bland urinalysis (absence of blood or protein in the urine), and chronic kidney disease leading to end-stage kidney disease (ESKD) between 20 and 80 years. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3412281001000111 Nierenerkrankung, tubulointerstitielle, autosomal-dominante, MUC1-assoziierte de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
894471000172116 maladie des kystes médullaires rénaux autosomique dominante associée à MUC1 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
921631000172117 néphropathie tubulo-intersitielle autosomique dominante associée à MUC1 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
894471000172116 maladie des kystes médullaires rénaux autosomique dominante associée à MUC1 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
921631000172117 néphropathie tubulo-intersitielle autosomique dominante associée à MUC1 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3412281001000111 Nierenerkrankung, tubulointerstitielle, autosomal-dominante, MUC1-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
Mucin 1 related autosomal dominant tubulointerstitial kidney disease (disorder) Is a Autosomal dominant tubulointerstitial kidney disease (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Mucin 1 related autosomal dominant tubulointerstitial kidney disease (disorder) Associated morphology Fibrocystic change true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mucin 1 related autosomal dominant tubulointerstitial kidney disease (disorder) Finding site Structure of medulla of kidney true Inferred relationship Existential restriction modifier (core metadata concept) 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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