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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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Familial hypokalemic and hypomagnesemic tubulopathy Is a Hypokalemic alkalosis false Inferred relationship Some
    Familial hypokalemic and hypomagnesemic tubulopathy Is a Hypokalemic nephropathy false Inferred relationship Some
    Familial hypokalemic and hypomagnesemic tubulopathy Is a Primary hypomagnesemia false Inferred relationship Some
    Familial hypokalemic and hypomagnesemic tubulopathy Associated morphology Inflammation false Inferred relationship Some 2
    Familial hypokalemic and hypomagnesemic tubulopathy Finding site Structure of parenchyma of kidney false Inferred relationship Some 2
    Familial hypokalemic and hypomagnesemic tubulopathy Associated morphology Inflammation false Inferred relationship Some 3
    Familial hypokalemic and hypomagnesemic tubulopathy Finding site Structure of interstitial tissue of kidney false Inferred relationship Some 3
    Familial hypokalemic and hypomagnesemic tubulopathy Finding site Structure of interstitial tissue of kidney false Inferred relationship Some 1
    Familial hypokalemic and hypomagnesemic tubulopathy Finding site Renal tubule structure false Inferred relationship Some 2
    Familial hypokalemic and hypomagnesemic tubulopathy Associated morphology Inflammatory morphology (morphologic abnormality) false Inferred relationship Some 2
    Familial hypokalemic and hypomagnesemic tubulopathy Associated morphology Inflammatory morphology (morphologic abnormality) false Inferred relationship Some 1
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Is a False Familial hypokalemic and hypomagnesemic tubulopathy 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 Familial hypokalemic and hypomagnesemic tubulopathy Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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