707755000: Familial hypokalemic and hypomagnesemic tubulopathy (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Feb 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3031199012 Familial hypokalaemic and hypomagnesaemic tubulopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3031268017 Familial hypokalemic and hypomagnesemic tubulopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3031344010 Familial hypokalemic and hypomagnesemic tubulopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3031199012 Familial hypokalaemic and hypomagnesaemic tubulopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3031199012 Familial hypokalaemic and hypomagnesaemic tubulopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3031268017 Familial hypokalemic and hypomagnesemic tubulopathy (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3031268017 Familial hypokalemic and hypomagnesemic tubulopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3031344010 Familial hypokalemic and hypomagnesemic tubulopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3031344010 Familial hypokalemic and hypomagnesemic tubulopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6167801000241118 tubulopathie familiale hypokaliémique et hypomagnésémique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6167811000241116 tubulopathie familiale avec hypokaliémie et hypomagnésémie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6167801000241118 tubulopathie familiale hypokaliémique et hypomagnésémique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6167811000241116 tubulopathie familiale avec hypokaliémie et hypomagnésémie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
tubulopathie familiale avec hypokaliémie et hypomagnésémie	Is a	Hypokalaemic alkalosis	false	Inferred relationship	Existential restriction modifier (core metadata concept)
tubulopathie familiale avec hypokaliémie et hypomagnésémie	Is a	Hypokalaemic nephropathy	false	Inferred relationship	Existential restriction modifier (core metadata concept)
tubulopathie familiale avec hypokaliémie et hypomagnésémie	Is a	Primary hypomagnesemia	false	Inferred relationship	Existential restriction modifier (core metadata concept)
tubulopathie familiale avec hypokaliémie et hypomagnésémie	Associated morphology	inflammation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
tubulopathie familiale avec hypokaliémie et hypomagnésémie	Finding site	Structure of parenchyma of kidney	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
tubulopathie familiale avec hypokaliémie et hypomagnésémie	Associated morphology	inflammation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
tubulopathie familiale avec hypokaliémie et hypomagnésémie	Finding site	Structure of interstitial tissue of kidney	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
tubulopathie familiale avec hypokaliémie et hypomagnésémie	Finding site	Structure of interstitial tissue of kidney	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
tubulopathie familiale avec hypokaliémie et hypomagnésémie	Finding site	Renal tubule structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
tubulopathie familiale avec hypokaliémie et hypomagnésémie	Associated morphology	Inflammatory morphology (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
tubulopathie familiale avec hypokaliémie et hypomagnésémie	Associated morphology	Inflammatory morphology (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome	Is a	False	tubulopathie familiale avec hypokaliémie et hypomagnésémie	Inferred relationship	Existential restriction modifier (core metadata concept)
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.	Is a	False	tubulopathie familiale avec hypokaliémie et hypomagnésémie	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

POSSIBLY EQUIVALENT TO association reference set