715789009: Myotonia permanens (disorder)

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

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3303716015	Myotonia permanens	en	Synonym	Active	Case insensitive	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	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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