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

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

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2071711000168111	Familial primary hypomagnesaemia with normocalciuria and normocalcaemia	en	Synonym	Active	Case insensitive	SNOMED Clinical Terms Australian extension
2071721000168116	FPHNN - familial primary hypomagnesaemia with normocalciuria and normocalcaemia	en	Synonym	Active	Case sensitive	SNOMED Clinical Terms Australian extension
3437074019	Familial primary hypomagnesemia with normocalciuria and normocalcemia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3437075018	Familial primary hypomagnesemia with normocalciuria and normocalcemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3437076017	Familial primary hypomagnesaemia with normocalciuria and normocalcemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3437077014	FPHNN - familial primary hypomagnesemia with normocalciuria and normocalcemia	en	Synonym	Active	Case sensitive	SNOMED CT core
3437078016	FPHNN - familial primary hypomagnesaemia with normocalciuria and normocalcemia	en	Synonym	Active	Case sensitive	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	Inactive	Case sensitive	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	Inactive	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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