765092004: Spheroid body myopathy (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myofibrillar myopathy\Spheroid body myopathy
• \Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Myofibrillar myopathy\Spheroid body myopathy
• \Musculoskeletal finding\Disorder of musculoskeletal system\...
• \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 foetus and/or newborn\Congenital disease (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\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spheroid body myopathy
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myofibrillar myopathy\Spheroid body myopathy
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Myofibrillar myopathy\Spheroid body myopathy
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myofibrillar myopathy\Spheroid body myopathy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3656377012	Spheroid body myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3656378019	Spheroid body myopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404470013	Spheroid body myopathy is 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404471012	Spheroid body myopathy is 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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

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Component annotation with string value reference set (foundation metadata concept)

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