707756004: Gitelman syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Abdominal organ finding\Kidney finding\Kidney disease\...

\Hereditary nephropathy (disorder)\Gitelman syndrome

\Disorder of renal parenchyma (disorder)\Renal tubular disorder\Tubulointerstitial nephritis (disorder)\Hypokalemic nephropathy\Gitelman syndrome
\Disorder of renal parenchyma (disorder)\Nephritis\Tubulointerstitial nephritis (disorder)\Hypokalemic nephropathy\Gitelman syndrome

\Metabolic renal disease\Renal hypocalciuria (disorder)\Gitelman syndrome
\Metabolic renal disease\Hypokalemic nephropathy\Gitelman syndrome

\General finding of soft tissue\Disorder of soft tissue\...

\Disorder of soft tissue of trunk\Disorder of soft tissue of abdominal cavity\Tubulointerstitial nephritis (disorder)\Hypokalemic nephropathy\Gitelman syndrome

\Disorder of soft tissue of body cavity\Disorder of soft tissue of abdominal cavity\Tubulointerstitial nephritis (disorder)\Hypokalemic nephropathy\Gitelman syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2015. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3031308017 Gitelman's syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3031375018 Gitelman syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3031384018 Gitelman syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

4964972015 A rare syndrome characterised by hypokalaemic metabolic alkalosis in combination with significant hypomagnesaemia and low urinary calcium excretion. The disease presents mainly in adolescents and adults but also encountered in children, as early as in the neonatal period. Caused by biallelic inactivating mutations in the SLC12A3 gene encoding the thiazide-sensitive sodium-chloride cotransporter NCC expressed in the apical membrane of cells lining the distal convoluted tubule. More than 350 different NCC mutations throughout the whole protein have been identified. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4964973013 A rare syndrome characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The disease presents mainly in adolescents and adults but also encountered in children, as early as in the neonatal period. Caused by biallelic inactivating mutations in the SLC12A3 gene encoding the thiazide-sensitive sodium-chloride cotransporter NCC expressed in the apical membrane of cells lining the distal convoluted tubule. More than 350 different NCC mutations throughout the whole protein have been identified. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Gitelman syndrome	Is a	Hypocalciuria	false	Inferred relationship	Some
Gitelman syndrome	Is a	Familial hypokalemic and hypomagnesemic tubulopathy	false	Inferred relationship	Some
Gitelman syndrome	Associated morphology	Inflammation	false	Inferred relationship	Some	2
Gitelman syndrome	Finding site	Structure of parenchyma of kidney	false	Inferred relationship	Some	2
Gitelman syndrome	Associated morphology	Inflammation	false	Inferred relationship	Some	3
Gitelman syndrome	Finding site	Structure of interstitial tissue of kidney	false	Inferred relationship	Some	3
Gitelman syndrome	Is a	Renal hypocalciuria (disorder)	true	Inferred relationship	Some
Gitelman syndrome	Associated morphology	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Some	1
Gitelman syndrome	Associated morphology	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Some	2
Gitelman syndrome	Finding site	Structure of interstitial tissue of kidney	true	Inferred relationship	Some	1
Gitelman syndrome	Finding site	Renal tubule structure (body structure)	true	Inferred relationship	Some	2
Gitelman syndrome	Is a	Connective tissue hereditary disorder (disorder)	true	Inferred relationship	Some
Gitelman syndrome	Is a	Hereditary nephropathy (disorder)	true	Inferred relationship	Some
Gitelman syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Gitelman syndrome	Is a	Hypokalemic alkalosis	true	Inferred relationship	Some
Gitelman syndrome	Is a	Hypokalemic nephropathy	true	Inferred relationship	Some
Gitelman syndrome	Is a	Primary hypomagnesemia	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3031308017	Gitelman's syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3031375018	Gitelman syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3031384018	Gitelman syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4964972015	A rare syndrome characterised by hypokalaemic metabolic alkalosis in combination with significant hypomagnesaemia and low urinary calcium excretion. The disease presents mainly in adolescents and adults but also encountered in children, as early as in the neonatal period. Caused by biallelic inactivating mutations in the SLC12A3 gene encoding the thiazide-sensitive sodium-chloride cotransporter NCC expressed in the apical membrane of cells lining the distal convoluted tubule. More than 350 different NCC mutations throughout the whole protein have been identified.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4964973013	A rare syndrome characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The disease presents mainly in adolescents and adults but also encountered in children, as early as in the neonatal period. Caused by biallelic inactivating mutations in the SLC12A3 gene encoding the thiazide-sensitive sodium-chloride cotransporter NCC expressed in the apical membrane of cells lining the distal convoluted tubule. More than 350 different NCC mutations throughout the whole protein have been identified.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core