1255274002: Congenital myopathy with reduced type 2 muscle fibers (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fiber type\Congenital myopathy with reduced type 2 muscle fibers
• \Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fiber type\Congenital myopathy with reduced type 2 muscle fibers
• \Musculoskeletal finding\Disorder of musculoskeletal system\...
• \Hereditary disorder of musculoskeletal system\Congenital myopathy with reduced type 2 muscle fibers
• \Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fiber type\Congenital myopathy with reduced type 2 muscle fibers
• \Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fiber type\Congenital myopathy with reduced type 2 muscle fibers
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital myopathy with reduced type 2 muscle fibers
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital myopathy with reduced type 2 muscle fibers
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital myopathy with reduced type 2 muscle fibers
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital myopathy with reduced type 2 muscle fibers
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Congenital myopathy with reduced type 2 muscle fibers
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fiber type\Congenital myopathy with reduced type 2 muscle fibers
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fiber type\Congenital myopathy with reduced type 2 muscle fibers
• \Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fiber type\Congenital myopathy with reduced type 2 muscle fibers
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fiber type\Congenital myopathy with reduced type 2 muscle fibers
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fiber type\Congenital myopathy with reduced type 2 muscle fibers
• \Disease\Developmental disorder\Developmental hereditary disorder\Congenital myopathy with reduced type 2 muscle fibers
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fiber type\Congenital myopathy with reduced type 2 muscle fibers

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Oct 2022. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5145808016	Congenital myopathy with reduced type II muscle fibres	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
5145809012	Congenital myopathy with type 2 muscle fibre atrophy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5145810019	Congenital myopathy with type II fiber atrophy	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
5145811015	Congenital myopathy with reduced type II muscle fibers	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
5145812010	Congenital myopathy with fast-twitch fiber atrophy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5145813017	Congenital myopathy with fast-twitch fibre atrophy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5145814011	Congenital myopathy with reduced type 2 muscle fibers	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5145815012	Congenital myopathy with type II fibre atrophy	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
5145816013	Congenital myopathy with reduced type 2 muscle fibers (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
5145817016	Congenital myopathy with reduced type 2 muscle fibres	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5145818014	Congenital myopathy with type 2 muscle fiber atrophy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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