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\Congenital myotonia\Congenital myotonia, autosomal dominant form
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Myotonic disorder\Congenital myotonia\Congenital myotonia, autosomal dominant form
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\Congenital myotonia, autosomal dominant form
• \Disorder of skeletal muscle\Myotonic disorder\Congenital myotonia\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Congenital myotonia, autosomal dominant form
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Myotonic disorder\Congenital myotonia\Congenital myotonia, autosomal dominant form
• \Disease\Myopathy\Disorder of skeletal muscle\Myotonic disorder\Congenital myotonia\Congenital myotonia, autosomal dominant form
• \Disease\Congenital disease\Congenital myotonia\Congenital myotonia, autosomal dominant form
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myotonic disorder\Congenital myotonia\Congenital myotonia, autosomal dominant form

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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