1197756002: Proximal myopathy with focal depletion of mitochondria (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Proximal myopathy\Proximal myopathy with focal depletion of mitochondria
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Proximal myopathy\Proximal myopathy with focal depletion of mitochondria
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Chronic disease of musculoskeletal system\Proximal myopathy with focal depletion of mitochondria
• \Disorder of skeletal muscle\Proximal myopathy\Proximal myopathy with focal depletion of mitochondria
• \Disease\Genetic disease\Proximal myopathy with focal depletion of mitochondria
• \Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Proximal myopathy with focal depletion of mitochondria
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Proximal myopathy\Proximal myopathy with focal depletion of mitochondria
• \Disease\Myopathy\Disorder of skeletal muscle\Proximal myopathy\Proximal myopathy with focal depletion of mitochondria
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Proximal myopathy with focal depletion of mitochondria
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Proximal myopathy\Proximal myopathy with focal depletion of mitochondria

Status: current, Primitive. Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4697932012	Proximal myopathy with focal depletion of mitochondria	en	Synonym	Active	Case insensitive	SNOMED CT core
4697933019	Proximal myopathy with focal depletion of mitochondria (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4697934013	A rare genetic neuromuscular disease with characteristics of late onset of mild, progressive proximal muscle weakness, severe myalgia during and after exercise, and susceptibility to rhabdomyolysis. Intellectual disability is mild or absent. There are no abnormalities of the skin. Muscle biopsy shows focal depletion of mitochondria especially at the centre of muscle fibres, surrounded by enlarged mitochondria at the periphery.	en	Definition	Active	Case sensitive	SNOMED CT core
4697935014	A rare genetic neuromuscular disease with characteristics of late onset of mild, progressive proximal muscle weakness, severe myalgia during and after exercise, and susceptibility to rhabdomyolysis. Intellectual disability is mild or absent. There are no abnormalities of the skin. Muscle biopsy shows focal depletion of mitochondria especially at the center of muscle fibers, surrounded by enlarged mitochondria at the periphery.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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