80710001: Primary hypomagnesemia (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\...

\Metabolic disorder of transport\Primary hypomagnesemia

\Disorder of fluid AND/OR electrolyte\Disorder of electrolytes\Magnesium disorder (disorder)\Hypomagnesaemia\Primary hypomagnesemia

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

3806151000005117 primær hypomagnesæmi 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
Primary hypomagnesemia	Is a	Metabolic disorder of transport	true	Inferred relationship	Some
Primary hypomagnesemia	Is a	Hypomagnesaemia	true	Inferred relationship	Some
Primary hypomagnesemia	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Isolated familial intestinal hypomagnesemia	Is a	True	Primary hypomagnesemia	Inferred relationship	Some
familiær hypokaliæmi-hypomagnesæmi	Is a	False	Primary hypomagnesemia	Inferred relationship	Some
Isolated familial renal hypomagnesemia	Is a	True	Primary hypomagnesemia	Inferred relationship	Some
Familial hypomagnesemia-hypercalciuria	Is a	True	Primary hypomagnesemia	Inferred relationship	Some
Familial hypokalemic and hypomagnesemic tubulopathy	Is a	False	Primary hypomagnesemia	Inferred relationship	Some
Hypomagnesemia with secondary hypocalcemia (disorder)	Is a	True	Primary hypomagnesemia	Inferred relationship	Some
Familial primary hypomagnesemia with normocalciuria (disorder)	Is a	True	Primary hypomagnesemia	Inferred relationship	Some
Hypomagnesemia co-occurrent with normocalciuria (disorder)	Is a	True	Primary hypomagnesemia	Inferred relationship	Some
Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia, characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal.	Is a	True	Primary hypomagnesemia	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	Primary hypomagnesemia	Inferred relationship	Some
A rare genetic disorder of magnesium transport characterized by infantile onset of generalized seizures and severe hypomagnesemia due to massive renal magnesium wasting. Seizures persist despite magnesium supplementation and are associated with significant global developmental delay and intellectual disability. Brain MRI may show reduced cerebral volume.	Is a	True	Primary hypomagnesemia	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	True	Primary hypomagnesemia	Inferred relationship	Some
A rare renal tubular disease characterised by hypomagnesaemia due to renal magnesium wasting, recurrent generalised seizures, mild to moderate intellectual disability, speech delay and obesity due to CNNM2 mutations. Most patients also manifest motor skill defects and hyperkinesia. Majority of the affected individuals do not exhibit brain anomalies.	Is a	True	Primary hypomagnesemia	Inferred relationship	Some
A rare disorder of magnesium transport characterised by hypomagnesaemia due to renal wasting, leading to tetany, early-onset seizures, impaired psychomotor development, and moderate intellectual disability. Secondary hypocalcaemia and obesity are absent.	Is a	True	Primary hypomagnesemia	Inferred relationship	Some

This concept is not in any reference sets