722008003: Isolated autosomal dominant hypomagnesemia Glaudemans type (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Isolated autosomal dominant hypomagnesaemia Glaudemans type
• \Metabolic disease\Metabolic disorder of transport\Primary hypomagnesaemia\Isolated autosomal dominant hypomagnesaemia Glaudemans type
• \Metabolic disease\Disorder of fluid AND/OR electrolyte\Disorder of electrolytes\Magnesium disorder\Hypomagnesaemia\Primary hypomagnesaemia\Isolated autosomal dominant hypomagnesaemia Glaudemans type

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3313725017	Isolated autosomal dominant hypomagnesemia Glaudemans type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3313735011	Isolated autosomal dominant hypomagnesemia Glaudemans type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3330121010	Isolated autosomal dominant hypomagnesaemia Glaudemans type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3330122015	A form of familial primary hypomagnesemia characterized by low serum magnesium values but normal urinary magnesium 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. The disease has only been described in one large Brazilian kindred with 46 family members, of whom 21 were affected. Caused by a N255D mutation in the KCNA1 gene (12p13), which encodes the voltage-gated potassium channel Kv1.1. Mutations in KCNA1 result in a nonfunctional channel protein, with a dominant negative effect on wild-type Kv1.1 channel function, which is involved in the maintenance of membrane voltage and optimal function of the TRPM6 channel. Transmission is autosomal dominant.	en	Definition	Active	Case sensitive	SNOMED CT core
3330123013	A form of familial primary hypomagnesaemia characterised by low serum magnesium values but normal urinary magnesium 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. The disease has only been described in one large Brazilian kindred with 46 family members, of whom 21 were affected. Caused by a N255D mutation in the KCNA1 gene (12p13), which encodes the voltage-gated potassium channel Kv1.1. Mutations in KCNA1 result in a nonfunctional channel protein, with a dominant negative effect on wild-type Kv1.1 channel function, which is involved in the maintenance of membrane voltage and optimal function of the TRPM6 channel. 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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