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735475005: Renal hypocalciuria (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3514630012 Renal hypocalciuria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3514631011 Renal hypocalciuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3514630012 Renal hypocalciuria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3514631011 Renal hypocalciuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Renal hypocalciuria (disorder) Is a Hypocalciuria true Inferred relationship Existential restriction modifier (core metadata concept)
Renal hypocalciuria (disorder) Is a Kidney disease false Inferred relationship Existential restriction modifier (core metadata concept)
Renal hypocalciuria (disorder) Finding site Kidney structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Renal hypocalciuria (disorder) Is a Metabolic renal disease true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Is a False Renal hypocalciuria (disorder) 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 True Renal hypocalciuria (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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