725031005: Familial primary hypomagnesemia with normocalciuria and normocalcemia (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Familial primary hypomagnesemia with normocalciuria (disorder)\Familial primary hypomagnesemia with normocalciuria and normocalcemia (disorder)
• \Metabolic disease\Metabolic disorder of transport (disorder)\Primary hypomagnesemia\Familial primary hypomagnesemia with normocalciuria (disorder)\Familial primary hypomagnesemia with normocalciuria and normocalcemia (disorder)
• \Metabolic disease\Disorder of fluid AND/OR electrolyte\Disorder of electrolytes\Magnesium disorder (disorder)\Hypomagnesaemia\Primary hypomagnesemia\Familial primary hypomagnesemia with normocalciuria (disorder)\Familial primary hypomagnesemia with normocalciuria and normocalcemia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3437074019	Familial primary hypomagnesemia with normocalciuria and normocalcemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3437075018	Familial primary hypomagnesemia with normocalciuria and normocalcemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3437076017	Familial primary hypomagnesaemia with normocalciuria and normocalcemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3437077014	FPHNN - familial primary hypomagnesemia with normocalciuria and normocalcemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3437078016	FPHNN - familial primary hypomagnesaemia with normocalciuria and normocalcemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3437074019	Familial primary hypomagnesemia with normocalciuria and normocalcemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3437075018	Familial primary hypomagnesemia with normocalciuria and normocalcemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3437076017	Familial primary hypomagnesaemia with normocalciuria and normocalcemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3437077014	FPHNN - familial primary hypomagnesemia with normocalciuria and normocalcemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3437078016	FPHNN - familial primary hypomagnesaemia with normocalciuria and normocalcemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3437079012	A form of familial primary hypomagnesemia characterized by low serum magnesium values but inappropriate normal urinary magnesium values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay. Less than 20 cases have been described in the literature. Caused by mutations in either CNNM2 (10q23.32) or EGF (4q25). CNNM2 encodes cyclin M2, a ubiquitous protein, predominantly expressed in the thick ascending limb of Henle's loop and in the renal distal convoluted tubule where it is thought to contribute to a magnesium-sensing mechanism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3437080010	A form of familial primary hypomagnesaemia characterised by low serum magnesium values but inappropriate normal urinary magnesium values (i.e. renal hypomagnaesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay. Less than 20 cases have been described in the literature. Caused by mutations in either CNNM2 (10q23.32) or EGF (4q25). CNNM2 encodes cyclin M2, a ubiquitous protein, predominantly expressed in the thick ascending limb of Henle's loop and in the renal distal convoluted tubule where it is thought to contribute to a magnesium-sensing mechanism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3383981001000116	Myopathie, distale, mit früher Beteiligung der Atemmuskulatur	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
943271000172115	hypomagnésémie primaire familiale avec normocalciurie et normocalcémie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
943271000172115	hypomagnésémie primaire familiale avec normocalciurie et normocalcémie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3383981001000116	Myopathie, distale, mit früher Beteiligung der Atemmuskulatur	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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