725393000: Autosomal dominant primary hypomagnesemia with hypocalciuria (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant primary hypomagnesemia with hypocalciuria
• \Metabolic disease\Metabolic disorder of transport (disorder)\Primary hypomagnesemia\Autosomal dominant primary hypomagnesemia with hypocalciuria
• \Metabolic disease\Disorder of fluid AND/OR electrolyte\Disorder of electrolytes\Magnesium disorder (disorder)\Hypomagnesaemia\Primary hypomagnesemia\Autosomal dominant primary hypomagnesemia with hypocalciuria
• \Metabolic disease\Disorder of mineral metabolism\Disorder of phosphate, calcium and vitamin D metabolism\Disorder of calcium metabolism (disorder)\Hypocalciuria\Autosomal dominant primary hypomagnesemia with hypocalciuria

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
3441990011	Autosomal dominant primary hypomagnesemia with hypocalciuria (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3441991010	Autosomal dominant primary hypomagnesemia with hypocalciuria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3441992015	Autosomal dominant primary hypomagnesaemia with hypocalciuria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3441993013	Isolated renal magnesium wasting	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3441994019	HOMG2 - renal hypomagnesemia type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3441995018	Isolated autosomal dominant hypomagnesemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3441996017	HOMG2 - renal hypomagnesaemia type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3441997014	Isolated autosomal dominant hypomagnesaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403454019	A mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403455018	A mild form of familial primary hypomagnesaemia (FPH), characterised by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3441990011	Autosomal dominant primary hypomagnesemia with hypocalciuria (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3441991010	Autosomal dominant primary hypomagnesemia with hypocalciuria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3441992015	Autosomal dominant primary hypomagnesaemia with hypocalciuria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3441993013	Isolated renal magnesium wasting	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3441994019	HOMG2 - renal hypomagnesemia type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3441995018	Isolated autosomal dominant hypomagnesemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3441996017	HOMG2 - renal hypomagnesaemia type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3441997014	Isolated autosomal dominant hypomagnesaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3441998016	A mild form of familial primary hypomagnesemia characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed. Only one large pedigree with 18 affected individuals has been reported in the literature. Caused by mutations in the FXYD2 gene (11q23; mutation p.Gly41Arg) which encodes the gamma subunit of the Na+/K+-ATPase, localized on the basolateral membranes of nephron epithelial cells and expressed in the distal convoluted tubule. Transmission is autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3441999012	A mild form of familial primary hypomagnesaemia characterised by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed. Only one large pedigree with 18 affected individuals has been reported in the literature. Caused by mutations in the FXYD2 gene (11q23; mutation p.Gly41Arg) which encodes the gamma subunit of the Na+/K+-ATPase, localised on the basolateral membranes of nephron epithelial cells and expressed in the distal convoluted tubule. Transmission is autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403454019	A mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403455018	A mild form of familial primary hypomagnesaemia (FPH), characterised by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3422151001000116	Primäre Hypomagnesiämie mit Hypokalziurie, autosomal-dominant	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
911981000172115	HOMG2 - hypomagnésémie rénale type 2	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
948321000172116	hypomagnésémie primaire autosomique dominante avec hypocalciurie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
911981000172115	HOMG2 - hypomagnésémie rénale type 2	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
948321000172116	hypomagnésémie primaire autosomique dominante avec hypocalciurie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3422151001000116	Primäre Hypomagnesiämie mit Hypokalziurie, autosomal-dominant	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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