1209168005: Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation (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 fiber type disproportion\Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation
• \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 fiber type disproportion\Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation
• \Musculoskeletal finding\Disorder of musculoskeletal system\...
• \Hereditary disorder of musculoskeletal system\Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation
• \Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fiber type\Congenital myopathy with fiber type disproportion\Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation
• \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 fiber type disproportion\Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation
• \Disease\Genetic disease\Congenital myopathy with fiber type disproportion\Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation
• \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 fiber type disproportion\Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation
• \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 fiber type disproportion\Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation
• \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 fiber type disproportion\Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation
• \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 fiber type disproportion\Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fiber type\Congenital myopathy with fiber type disproportion\Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation
• \Disease\Developmental disorder\Developmental hereditary disorder\Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation
• \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 fiber type disproportion\Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5025330016	Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
5025331017	Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5025332012	Congenital fibre-type disproportion myopathy due to myosin heavy chain 7 mutation	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5025333019	Congenital fiber-type disproportion myopathy due to MYH7 mutation	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
5025334013	Congenital fibre-type disproportion myopathy due to MYH7 mutation	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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