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80710001: Primary hypomagnesemia (disorder)

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
133884011 Primary hypomagnesemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
504496013 Primary hypomagnesaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
821900010 Primary hypomagnesemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
133884011 Primary hypomagnesemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
133884011 Primary hypomagnesemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
504496013 Primary hypomagnesaemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
504496013 Primary hypomagnesaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
821900010 Primary hypomagnesemia (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
821900010 Primary hypomagnesemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
6430311000241116 hypomagnésémie primaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6430311000241116 hypomagnésémie primaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

16 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Primary hypomagnesemia Is a Metabolic disorder of transport (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Primary hypomagnesemia Is a Hypomagnesaemia true Inferred relationship Existential restriction modifier (core metadata concept)
Primary hypomagnesemia Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Isolated familial intestinal hypomagnesemia Is a True Primary hypomagnesemia Inferred relationship Existential restriction modifier (core metadata concept)
Familial hypokalemia-hypomagnesemia Is a False Primary hypomagnesemia Inferred relationship Existential restriction modifier (core metadata concept)
Isolated familial renal hypomagnesaemia Is a True Primary hypomagnesemia Inferred relationship Existential restriction modifier (core metadata concept)
Familial hypomagnesaemia-hypercalciuria Is a True Primary hypomagnesemia Inferred relationship Existential restriction modifier (core metadata concept)
tubulopathie familiale avec hypokaliémie et hypomagnésémie Is a False Primary hypomagnesemia Inferred relationship Existential restriction modifier (core metadata concept)
Hypomagnesemia with secondary hypocalcemia (disorder) Is a True Primary hypomagnesemia Inferred relationship Existential restriction modifier (core metadata concept)
Familial primary hypomagnesemia with normocalciuria (disorder) Is a True Primary hypomagnesemia Inferred relationship Existential restriction modifier (core metadata concept)
Hypomagnesemia co-occurrent with normocalciuria (disorder) Is a True Primary hypomagnesemia Inferred relationship Existential restriction modifier (core metadata concept)
Isolated autosomal dominant hypomagnesemia Glaudemans type (disorder) Is a True Primary hypomagnesemia Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant primary hypomagnesemia with hypocalciuria Is a True Primary hypomagnesemia Inferred relationship Existential restriction modifier (core metadata concept)
Primary hypomagnesemia, refractory seizures, intellectual disability syndrome Is a True Primary hypomagnesemia 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 Primary hypomagnesemia Inferred relationship Existential restriction modifier (core metadata concept)
Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome Is a True Primary hypomagnesemia Inferred relationship Existential restriction modifier (core metadata concept)
Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder) Is a True Primary hypomagnesemia Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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