765092004: Spheroid body myopathy (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myofibrillar myopathy\Spheroid body myopathy
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Myofibrillar myopathy\Spheroid body myopathy
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\Spheroid body myopathy
• \Disorder of skeletal muscle\Myofibrillar myopathy\Spheroid body myopathy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spheroid body myopathy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Spheroid body myopathy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spheroid body myopathy
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Spheroid body myopathy
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Myofibrillar myopathy\Spheroid body myopathy
• \Disease\Myopathy\Disorder of skeletal muscle\Myofibrillar myopathy\Spheroid body myopathy
• \Disease\Congenital disease\Spheroid body myopathy
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myofibrillar myopathy\Spheroid body myopathy

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3656377012	Spheroid body myopathy	en	Synonym	Active	Case insensitive	SNOMED CT core
3656378019	Spheroid body myopathy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3656379010	A rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non or slowly progressive), associated with spheroid body inclusions (composed of myofilament material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations.	en	Definition	Active	Case sensitive	SNOMED CT core
3656380013	A rare form of myofibrillar myopathy characterised by predominantly proximal muscle weakness (that could be either non or slowly progressive), associated with spheroid body inclusions (composed of myofilament material within individual muscle fibres) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations.	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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