726107008: distale myopathie Welander-type (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\...
• \Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Muscle finding\Disorder of muscle\...
• \Hereditary myopathy (disorder)\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Degenerative disorder of muscle\Muscular dystrophy\...
• \Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Disorder of skeletal muscle\Muscular dystrophy\...
• \Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\...
• \Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Degenerative disorder of musculoskeletal system\Muscular dystrophy\...
• \Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Chronic disease of musculoskeletal system\Muscular dystrophy\...
• \Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Disorder of skeletal muscle\Muscular dystrophy\...
• \Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Disease\Genetic disease\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary myopathy (disorder)\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Distal myopathy Welander type (disorder)
• \Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Disease\Disorder of muscle\Hereditary myopathy (disorder)\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Disease\Disorder of muscle\Degenerative disorder of muscle\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Disease\Disorder of muscle\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Disease\Developmental disorder\Muscular dystrophy\Muscular dystrophy not predominantly limb girdle in distribution\Distal muscular dystrophy\Distal myopathy Welander type (disorder)
• \Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\Distal muscular dystrophy\Distal myopathy Welander type (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3448212018	Distal myopathy Welander type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3448213011	Distal myopathy Welander type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3448214017	Distal myopathy Swedish type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6163411000146110	spierdystrofie van Welander	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12740871000146112	distale myopathie Welander-type	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12740881000146114	distale myopathie Welander-type (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3448215016	A distal myopathy with characteristics of weakness in the distal upper extremities usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremities primarily in toe and ankle extensors. This disease is mainly restricted to a geographical area around the Baltic Sea and is a late adult-onset disorder. Caused by a missense change (c.1362G>A; p.E384K) in TIA1 gene (2p13) which encodes nucleolysin TIA-1 isoform p40, a key component of stress granules. Inherited as an autosomal dominant trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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