715317001: proximale myotone myopathie (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\...
• \Myotonic disorder\Myotonic dystrophy (disorder)\Proximal myotonic myopathy (disorder)
• \Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Proximal myotonic myopathy (disorder)
• \Muscle finding\Disorder of muscle\...
• \Hereditary myopathy (disorder)\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Proximal myotonic myopathy (disorder)
• \Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Proximal myotonic myopathy (disorder)
• \Disorder of skeletal muscle\Myotonic disorder\Myotonic dystrophy (disorder)\Proximal myotonic myopathy (disorder)
• \Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Proximal myotonic myopathy (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\...
• \Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Proximal myotonic myopathy (disorder)
• \Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Proximal myotonic myopathy (disorder)
• \Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Proximal myotonic myopathy (disorder)
• \Disorder of skeletal muscle\Myotonic disorder\Myotonic dystrophy (disorder)\Proximal myotonic myopathy (disorder)
• \Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Proximal myotonic myopathy (disorder)
• \Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Proximal myotonic myopathy (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary myopathy (disorder)\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Proximal myotonic myopathy (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Proximal myotonic myopathy (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Proximal myotonic myopathy (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Myotonic dystrophy (disorder)\Proximal myotonic myopathy (disorder)
• \Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Proximal myotonic myopathy (disorder)
• \Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Proximal myotonic myopathy (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Proximal myotonic myopathy (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Proximal myotonic myopathy (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Proximal myotonic myopathy (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Proximal myotonic myopathy (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myotonic disorder\Myotonic dystrophy (disorder)\Proximal myotonic myopathy (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Proximal myotonic myopathy (disorder)
• \Disease\Disorder of muscle\Hereditary myopathy (disorder)\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Proximal myotonic myopathy (disorder)
• \Disease\Disorder of muscle\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Proximal myotonic myopathy (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Myotonic disorder\Myotonic dystrophy (disorder)\Proximal myotonic myopathy (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Proximal myotonic myopathy (disorder)
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Proximal myotonic myopathy (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myotonic disorder\Myotonic dystrophy (disorder)\Proximal myotonic myopathy (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Proximal myotonic myopathy (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Proximal myotonic myopathy (disorder)
• \Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Proximal myotonic myopathy (disorder)

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
6389891000146113	proximale myotone myopathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6389901000146114	proximale myotone myopathie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6389911000146111	PROMM	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6389921000146118	MD type 2	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6389931000146116	myotonische dystrofie type 2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6389941000146112	ziekte van Ricker	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6389951000146110	proximale myotone dystrofie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6389961000146113	Ricker-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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

Expanded Value Set

Reference Sets

Dutch rare neuromuscular disorders simple reference set (foundation metadata concept)

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