715793003: Acetazolamide responsive myotonia (disorder)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3303731012	Acetazolamide responsive myotonia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5401095015	A form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3303730013	Acetazolamide responsive myotonia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3303730013	Acetazolamide responsive myotonia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3303731012	Acetazolamide responsive myotonia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3303731012	Acetazolamide responsive myotonia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401095015	A form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3442801001000111	Myotonia congenita, Azetazolamidempfindliche	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
920361000172111	myotonie sensible à l'acétazolamide	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
996971000172113	myotonie avec crampes douloureuses	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
920361000172111	myotonie sensible à l'acétazolamide	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
996971000172113	myotonie avec crampes douloureuses	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3442801001000111	Myotonia congenita, Azetazolamidempfindliche	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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