20305008: Congenital myotonia, autosomal recessive 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 recessive form
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Myotonic disorder\Congenital myotonia\Congenital myotonia, autosomal recessive form
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\Congenital myotonia, autosomal recessive form
• \Disorder of skeletal muscle\Myotonic disorder\Congenital myotonia\Congenital myotonia, autosomal recessive form
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital myotonia, autosomal recessive form
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital myotonia, autosomal recessive form
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital myotonia, autosomal recessive form
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Congenital myotonia, autosomal recessive form
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Myotonic disorder\Congenital myotonia\Congenital myotonia, autosomal recessive form
• \Disease\Myopathy\Disorder of skeletal muscle\Myotonic disorder\Congenital myotonia\Congenital myotonia, autosomal recessive form
• \Disease\Congenital disease\Congenital myotonia\Congenital myotonia, autosomal recessive form
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myotonic disorder\Congenital myotonia\Congenital myotonia, autosomal recessive form

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1222419014	Becker myotonia congenita	en	Synonym	Active	Case sensitive	SNOMED CT core
1222420015	Myotonia congenita - autosomal recessive form	en	Synonym	Active	Case insensitive	SNOMED CT core
34147015	Congenital myotonia, autosomal recessive form	en	Synonym	Active	Case insensitive	SNOMED CT core
749363012	Congenital myotonia, autosomal recessive form (disorder)	en	Fully specified name	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

Back to Start