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765092004: Spheroid body myopathy (disorder)


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
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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
881131000172112 myopathie à corps sphéroîdes fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spheroid body myopathy Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Spheroid body myopathy Is a Congenital disease (disorder) true Inferred relationship Some
Spheroid body myopathy Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Spheroid body myopathy Is a Myofibrillar myopathy true Inferred relationship Some
Spheroid body myopathy Occurrence Congenital true Inferred relationship Some 1
Spheroid body myopathy Finding site Skeletal muscle structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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