715789009: Myotonia permanens (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 (disorder)\Myotonia permanens (disorder)
• \Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Myotonic disorder\Potassium aggravated myotonia (disorder)\Myotonia permanens (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\...
• \Hereditary disorder of musculoskeletal system\Potassium aggravated myotonia (disorder)\Myotonia permanens (disorder)
• \Disorder of skeletal muscle\Myotonic disorder\Potassium aggravated myotonia (disorder)\Myotonia permanens (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Potassium aggravated myotonia (disorder)\Myotonia permanens (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Potassium aggravated myotonia (disorder)\Myotonia permanens (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Potassium aggravated myotonia (disorder)\Myotonia permanens (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Potassium aggravated myotonia (disorder)\Myotonia permanens (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myotonic disorder\Potassium aggravated myotonia (disorder)\Myotonia permanens (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Myotonic disorder\Potassium aggravated myotonia (disorder)\Myotonia permanens (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myotonic disorder\Potassium aggravated myotonia (disorder)\Myotonia permanens (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
3303715016	Myotonia permanens (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3303716015	Myotonia permanens	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3303717012	A very rare, persistent and more severe form of potassium-aggravated myotonia. Begins during childhood (usually before 10 years of age) and involves mainly the face, neck, limbs, and thoracic muscles. It can be aggravated by exercise or potassium ingestion and less often by cold. Myotonia permanens is a muscle sodium 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

Expanded Value Set

This concept is not in any reference sets

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