715317001: Proximal myotonic myopathy (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\...
• \Myotonic disorder\Myotonic dystrophy (disorder)\A rare myotonic dystrophy of juvenile or adult-onset characterised by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.
• \Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\A rare myotonic dystrophy of juvenile or adult-onset characterised by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.
• \Muscle finding (finding)\Disorder of muscle\...
• \Degenerative disorder of muscle (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\A rare myotonic dystrophy of juvenile or adult-onset characterised by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.
• \Disorder of skeletal muscle\Myotonic disorder\Myotonic dystrophy (disorder)\A rare myotonic dystrophy of juvenile or adult-onset characterised by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.
• \Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\A rare myotonic dystrophy of juvenile or adult-onset characterised by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\...
• \Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\A rare myotonic dystrophy of juvenile or adult-onset characterised by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.
• \Degenerative disorder of musculoskeletal system (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\A rare myotonic dystrophy of juvenile or adult-onset characterised by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.
• \Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\A rare myotonic dystrophy of juvenile or adult-onset characterised by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.
• \Disorder of skeletal muscle\Myotonic disorder\Myotonic dystrophy (disorder)\A rare myotonic dystrophy of juvenile or adult-onset characterised by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.
• \Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\A rare myotonic dystrophy of juvenile or adult-onset characterised by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.
• \Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\A rare myotonic dystrophy of juvenile or adult-onset characterised by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\A rare myotonic dystrophy of juvenile or adult-onset characterised by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\A rare myotonic dystrophy of juvenile or adult-onset characterised by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Myotonic dystrophy (disorder)\A rare myotonic dystrophy of juvenile or adult-onset characterised by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.
• \Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\A rare myotonic dystrophy of juvenile or adult-onset characterised by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.
• \Disease\Degenerative disorder\Degenerative disorder of muscle (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\A rare myotonic dystrophy of juvenile or adult-onset characterised by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\A rare myotonic dystrophy of juvenile or adult-onset characterised by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\A rare myotonic dystrophy of juvenile or adult-onset characterised by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Degenerative disorder of musculoskeletal system (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\A rare myotonic dystrophy of juvenile or adult-onset characterised by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\A rare myotonic dystrophy of juvenile or adult-onset characterised by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Myotonic disorder\Myotonic dystrophy (disorder)\A rare myotonic dystrophy of juvenile or adult-onset characterised by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\A rare myotonic dystrophy of juvenile or adult-onset characterised by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.
• \Disease\Disorder of muscle\Degenerative disorder of muscle (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\A rare myotonic dystrophy of juvenile or adult-onset characterised by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Myotonic disorder\Myotonic dystrophy (disorder)\A rare myotonic dystrophy of juvenile or adult-onset characterised by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\A rare myotonic dystrophy of juvenile or adult-onset characterised by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\A rare myotonic dystrophy of juvenile or adult-onset characterised by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myotonic disorder\Myotonic dystrophy (disorder)\A rare myotonic dystrophy of juvenile or adult-onset characterised by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\A rare myotonic dystrophy of juvenile or adult-onset characterised by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\A rare myotonic dystrophy of juvenile or adult-onset characterised by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.
• \Disease\Developmental disorder (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\A rare myotonic dystrophy of juvenile or adult-onset characterised by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3302203011	Proximal myotonic myopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302204017	Proximal myotonic myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302205016	Myotonic dystrophy type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302206015	Ricker disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302207012	Ricker syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400819016	A rare myotonic dystrophy of juvenile or adult-onset characterized by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400820010	A rare myotonic dystrophy of juvenile or adult-onset characterised by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302203011	Proximal myotonic myopathy (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302203011	Proximal myotonic myopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302204017	Proximal myotonic myopathy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302204017	Proximal myotonic myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302205016	Myotonic dystrophy type 2	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302205016	Myotonic dystrophy type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302206015	Ricker disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302207012	Ricker syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302208019	A multisystemic disease characterised by the association of proximal muscle weakness with myotonia, cardiac manifestations and cataract. Patients usually present during adulthood. There are no reports of congenital or childhood onset but a rare juvenile form of the disease has been described. The disease is transmitted in an autosomal dominant manner and is caused by expansion of a CCTG repeat in intron 1 of the CNBP gene (3q21).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302209010	A multisystemic disease characterized by the association of proximal muscle weakness with myotonia, cardiac manifestations and cataract. Patients usually present during adulthood. There are no reports of congenital or childhood onset but a rare juvenile form of the disease has been described. The disease is transmitted in an autosomal dominant manner and is caused by expansion of a CCTG repeat in intron 1 of the CNBP gene (3q21).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400819016	A rare myotonic dystrophy of juvenile or adult-onset characterized by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400820010	A rare myotonic dystrophy of juvenile or adult-onset characterised by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3419121001000110	Myopathie, myotone proximale	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
875171000172115	dystrophie myotonique proximale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
997761000172117	myopathie myotonique proximale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
875171000172115	dystrophie myotonique proximale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
997761000172117	myopathie myotonique proximale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3419121001000110	Myopathie, myotone proximale	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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