764994007: Myopathy with hexagonally cross-linked tubular arrays (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Proximal myopathy\Myopathy with hexagonally cross-linked tubular arrays
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Proximal myopathy\Myopathy with hexagonally cross-linked tubular arrays
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal muscle\Proximal myopathy\Myopathy with hexagonally cross-linked tubular arrays
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Proximal myopathy\Myopathy with hexagonally cross-linked tubular arrays
• \Disease\Myopathy\Disorder of skeletal muscle\Proximal myopathy\Myopathy with hexagonally cross-linked tubular arrays
• \Disease\Congenital disease\Myopathy with hexagonally cross-linked tubular arrays
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Proximal myopathy\Myopathy with hexagonally cross-linked tubular arrays

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3655980012	Myopathy with hexagonally cross-linked tubular arrays	en	Synonym	Active	Case insensitive	SNOMED CT core
3655981011	Myopathy with hexagonally cross-linked tubular arrays (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3655986018	A rare congenital non-dystrophic mild slowly progressive proximal myopathy characterised by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organised hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without muscular weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus.	en	Definition	Active	Case sensitive	SNOMED CT core
3655987010	A rare congenital non-dystrophic mild slowly progressive proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without muscular weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus.	en	Definition	Active	Case sensitive	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

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