86353007: Hypocalciuria (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder of phosphate, calcium and vitamin D metabolism (disorder)\Disorder of calcium metabolism\Hypocalciuria

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

143211018 Hypocalciuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

828599018 Hypocalciuria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3800141000005116 hypokalciuri da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypocalciuria	Is a	Disorder of calcium metabolism	true	Inferred relationship	Some
Hypocalciuria	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hypocalciuric hypercalcemia	Due to	True	Hypocalciuria	Inferred relationship	Some	2
Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome	Is a	False	Hypocalciuria	Inferred relationship	Some
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	Hypocalciuria	Inferred relationship	Some
A mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.	Is a	True	Hypocalciuria	Inferred relationship	Some
Renal hypocalciuria (disorder)	Is a	True	Hypocalciuria	Inferred relationship	Some

This concept is not in any reference sets