725393000: Autosomal dominant primary hypomagnesemia with hypocalciuria (disorder)

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

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3441991010	Autosomal dominant primary hypomagnesemia with hypocalciuria	en	Synonym	Active	Case insensitive	SNOMED CT core
3441992015	Autosomal dominant primary hypomagnesaemia with hypocalciuria	en	Synonym	Active	Case insensitive	SNOMED CT core
3441993013	Isolated renal magnesium wasting	en	Synonym	Active	Case insensitive	SNOMED CT core
3441994019	HOMG2 - renal hypomagnesemia type 2	en	Synonym	Active	Case sensitive	SNOMED CT core
3441995018	Isolated autosomal dominant hypomagnesemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3441996017	HOMG2 - renal hypomagnesaemia type 2	en	Synonym	Active	Case sensitive	SNOMED CT core
3441997014	Isolated autosomal dominant hypomagnesaemia	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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