726051002: Myotonia congenita (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myotonic disorder\Congenital myotonia
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Myotonic disorder\Congenital myotonia
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal muscle\Myotonic disorder\Congenital myotonia
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Myotonic disorder\Congenital myotonia
• \Disease\Myopathy\Disorder of skeletal muscle\Myotonic disorder\Congenital myotonia
• \Disease\Congenital disease\Congenital myotonia
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myotonic disorder\Congenital myotonia

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3447739012	Myotonia congenita (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3447740014	Myotonia congenita	en	Synonym	Active	Case insensitive	SNOMED CT core
3447741013	Congenital myotonia	en	Synonym	Active	Case insensitive	SNOMED CT core
3447742018	A disorder of the skeletal muscles with childhood onset of myotonia. The myotonia most often occurs in the legs and can interfere with movement. There are two major forms of this disease Thomsen disease and Becker disease. These conditions are distinguished by the severity of their symptoms and their patterns of inheritance. The disease is caused by mutations in the CLCN1 gene. Mutations in this gene alter the usual structure or function of chloride channels. This disruption in chloride ion flow triggers prolonged muscle contractions.	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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