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765330003: Autosomal dominant polycystic kidney disease (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3657944013 Autosomal dominant polycystic kidney disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3657945014 Autosomal dominant polycystic kidney disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3657946010 ADPKD - autosomal dominant polycystic kidney disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404533019 A rare, genetic, renal tubular disease characterized by progressive outgrowths of fluid-filled cysts from the renal epithelium, which can manifest with hematuria, urinary tract infections, hypertension, and abdominal or flank pain. The slowly progressive loss of kidney function may evolve to end stage kidney disease (ESKD). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404534013 A rare, genetic, renal tubular disease characterised by progressive outgrowths of fluid-filled cysts from the renal epithelium, which can manifest with haematuria, urinary tract infections, hypertension, and abdominal or flank pain. The slowly progressive loss of kidney function may evolve to end stage kidney disease (ESKD). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3657944013 Autosomal dominant polycystic kidney disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3657945014 Autosomal dominant polycystic kidney disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3657946010 ADPKD - autosomal dominant polycystic kidney disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3657947018 Inherited disease with characteristics of the development of cysts in the kidneys. The disease rarely causes any noticeable problems until the cysts grow large enough to affect renal function, usually between 30 and 60 years of age. Less commonly, children or older people may have noticeable symptoms. Two different genes are known to cause this disease PKD1 and PKD2. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404533019 A rare, genetic, renal tubular disease characterized by progressive outgrowths of fluid-filled cysts from the renal epithelium, which can manifest with hematuria, urinary tract infections, hypertension, and abdominal or flank pain. The slowly progressive loss of kidney function may evolve to end stage kidney disease (ESKD). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404534013 A rare, genetic, renal tubular disease characterised by progressive outgrowths of fluid-filled cysts from the renal epithelium, which can manifest with haematuria, urinary tract infections, hypertension, and abdominal or flank pain. The slowly progressive loss of kidney function may evolve to end stage kidney disease (ESKD). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
429871000274111 Autosomal dominante polyzystische Nierenerkrankung de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
873291000172114 polykystose rénale autosomique dominante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
889621000172116 ADPKD - autosomal dominant polycystic kidney disease fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
873291000172114 polykystose rénale autosomique dominante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
889621000172116 ADPKD - autosomal dominant polycystic kidney disease fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
429871000274111 Autosomal dominante polyzystische Nierenerkrankung de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3430861001000114 Nierenkrankheit, polyzystische, autosomal-dominante de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


5 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant polycystic kidney disease Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant polycystic kidney disease Finding site Kidney structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant polycystic kidney disease Is a Congenital cystic kidney disease true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant polycystic kidney disease Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant polycystic kidney disease Associated morphology Polycystic change true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant polycystic kidney disease Is a Hereditary nephropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group
Adult type polycystic kidney disease type 2 (disorder) Is a True Autosomal dominant polycystic kidney disease Inferred relationship Existential restriction modifier (core metadata concept)
Adult type polycystic kidney disease type 1 (disorder) Is a True Autosomal dominant polycystic kidney disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant polycystic kidney disease in childhood Is a True Autosomal dominant polycystic kidney disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Is a True Autosomal dominant polycystic kidney disease Inferred relationship Existential restriction modifier (core metadata concept)
Multinodular goiter, cystic kidney, polydactyly syndrome Is a True Autosomal dominant polycystic kidney disease Inferred relationship Existential restriction modifier (core metadata concept)

Reference Sets

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

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