715793003: Acetazolamide responsive myotonia (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myotonic disorder\Potassium aggravated myotonia\Acetazolamide responsive myotonia
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Myotonic disorder\Potassium aggravated myotonia\Acetazolamide responsive myotonia
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\Potassium aggravated myotonia\Acetazolamide responsive myotonia
• \Disorder of skeletal muscle\Myotonic disorder\Potassium aggravated myotonia\Acetazolamide responsive myotonia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Potassium aggravated myotonia\Acetazolamide responsive myotonia
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Potassium aggravated myotonia\Acetazolamide responsive myotonia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Potassium aggravated myotonia\Acetazolamide responsive myotonia
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Potassium aggravated myotonia\Acetazolamide responsive myotonia
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Myotonic disorder\Potassium aggravated myotonia\Acetazolamide responsive myotonia
• \Disease\Myopathy\Disorder of skeletal muscle\Myotonic disorder\Potassium aggravated myotonia\Acetazolamide responsive myotonia
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myotonic disorder\Potassium aggravated myotonia\Acetazolamide responsive myotonia

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3303730013	Acetazolamide responsive myotonia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3303731012	Acetazolamide responsive myotonia	en	Synonym	Active	Case insensitive	SNOMED CT core
3303767017	A form of potassium-aggravated myotonia which shows dramatic improvement with the use of acetazolamide. Symptoms generally manifest during childhood (before 10 years old), with myotonia of the facial, limbs and/or intercostal muscles that is triggered by potassium ingestion, fasting and mildly by cold exposure and exercise. Muscle stiffness is generally painful. Acetazolamide-responsive myotonia is a sodium muscle channelopathy due to missense mutations of the SCN4A gene, encoding the alpha subunit of the skeletal muscle voltage-gated sodium channel Nav1.4. 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

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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