707756004: syndrome de Gitelman (trouble)

SNOMED CT Concept\constatation clinique\...

\Viscus structure finding (finding)\constatation à propos d'un organe abdominal\Kidney finding\Kidney disease\...

\Hereditary nephropathy (disorder)\Gitelman syndrome

\maladie métabolique du rein\Renal hypocalciuria (disorder)\Gitelman syndrome
\maladie métabolique du rein\Hypokalemic nephropathy (disorder)\Familial hypokalaemic and hypomagnesaemic tubulopathy\Gitelman syndrome

\constatation générale à propos des tissus mous\Disorder of soft tissue\affection des tissus mous du tronc\Tubulointerstitial nephritis (disorder)\Hypokalemic nephropathy (disorder)\Familial hypokalaemic and hypomagnesaemic tubulopathy\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

736651000241118 syndrome de Gitelman (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

992231000172117 syndrome de Gitelman fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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	morphologie associée (attribut)	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Some	1
Gitelman syndrome	morphologie associée (attribut)	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Some	2
Gitelman syndrome	localisation d'une constatation (attribut)	Structure of interstitial tissue of kidney	true	Inferred relationship	Some	1
Gitelman syndrome	localisation d'une constatation (attribut)	Renal tubule structure	true	Inferred relationship	Some	2
Gitelman syndrome	est un(e) (attribut)	Connective tissue hereditary disorder	true	Inferred relationship	Some
Gitelman syndrome	est un(e) (attribut)	Hereditary nephropathy (disorder)	true	Inferred relationship	Some
Gitelman syndrome	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Gitelman syndrome	est un(e) (attribut)	Hypocalciuria	false	Inferred relationship	Some
Gitelman syndrome	est un(e) (attribut)	Familial hypokalaemic and hypomagnesaemic tubulopathy	true	Inferred relationship	Some
Gitelman syndrome	morphologie associée (attribut)	inflammation	false	Inferred relationship	Some	2
Gitelman syndrome	localisation d'une constatation (attribut)	Structure of parenchyma of kidney	false	Inferred relationship	Some	2
Gitelman syndrome	morphologie associée (attribut)	inflammation	false	Inferred relationship	Some	3
Gitelman syndrome	localisation d'une constatation (attribut)	Structure of interstitial tissue of kidney	false	Inferred relationship	Some	3
Gitelman syndrome	est un(e) (attribut)	Renal hypocalciuria (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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
736651000241118	syndrome de Gitelman (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
992231000172117	syndrome de Gitelman	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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