57938005: Congenital myotonia, autosomal dominant form (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myotonic disorder\Myotonia congenita\Congenital myotonia, autosomal dominant form
• \Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Myotonic disorder\Myotonia congenita\Congenital myotonia, autosomal dominant form
• \Musculoskeletal finding\Disorder of musculoskeletal system\...
• \Hereditary disorder of musculoskeletal system\Congenital myotonia, autosomal dominant form
• \Disorder of skeletal muscle\Myotonic disorder\Myotonia congenita\Congenital myotonia, autosomal dominant form
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital myotonia, autosomal dominant form
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Congenital myotonia, autosomal dominant form
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital myotonia, autosomal dominant form
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Congenital myotonia, autosomal dominant form
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myotonic disorder\Myotonia congenita\Congenital myotonia, autosomal dominant form
• \Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Myotonic disorder\Myotonia congenita\Congenital myotonia, autosomal dominant form
• \Disease\Congenital disease\Myotonia congenita\Congenital myotonia, autosomal dominant form
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myotonic disorder\Myotonia congenita\Congenital myotonia, autosomal dominant form

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
96321017	Congenital myotonia, autosomal dominant form	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
498018015	Myotonia congenita - autosomal dominant form	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
498020017	Thomsen's disease	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
498021018	Thomsen myotonia congenita	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
796615016	Congenital myotonia, autosomal dominant form (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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