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 fibre type\Congenital myopathy with fibre type disproportion\Congenital fibre-type disproportion myopathy due to MYH7 mutation
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion\Congenital fibre-type disproportion myopathy due to MYH7 mutation
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\Congenital fibre-type disproportion myopathy due to MYH7 mutation
• \Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion\Congenital fibre-type disproportion myopathy due to MYH7 mutation
• \Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion\Congenital fibre-type disproportion myopathy due to MYH7 mutation
• \Disease\Genetic disease\Congenital myopathy with fibre type disproportion\Congenital fibre-type disproportion myopathy due to MYH7 mutation
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital fibre-type disproportion myopathy due to MYH7 mutation
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital fibre-type disproportion myopathy due to MYH7 mutation
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Congenital fibre-type disproportion myopathy due to MYH7 mutation
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital fibre-type disproportion myopathy due to MYH7 mutation
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Congenital fibre-type disproportion myopathy due to MYH7 mutation
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion\Congenital fibre-type disproportion myopathy due to MYH7 mutation
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion\Congenital fibre-type disproportion myopathy due to MYH7 mutation
• \Disease\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion\Congenital fibre-type disproportion myopathy due to MYH7 mutation
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion\Congenital fibre-type disproportion myopathy due to MYH7 mutation
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion\Congenital fibre-type disproportion myopathy due to MYH7 mutation
• \Disease\Developmental disorder\Developmental hereditary disorder\Congenital fibre-type disproportion myopathy due to MYH7 mutation
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion\Congenital fibre-type disproportion myopathy due to MYH7 mutation

Status: current, Primitive. Date: 31-Mar 2022. Module: SNOMED CT core

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	Case insensitive	SNOMED CT core
5025331017	Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation	en	Synonym	Active	Case insensitive	SNOMED CT core
5025332012	Congenital fibre-type disproportion myopathy due to myosin heavy chain 7 mutation	en	Synonym	Active	Case insensitive	SNOMED CT core
5025333019	Congenital fiber-type disproportion myopathy due to MYH7 mutation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5025334013	Congenital fibre-type disproportion myopathy due to MYH7 mutation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5025340018	Congenital myopathy with fibre-type disproportion associated with the MYH7 (myosin heavy chain 7) gene on the cytogenetic location 14q11.2 inherited in an autosomal dominant manner.	en	Definition	Active	Case sensitive	SNOMED CT core
5025544014	Congenital myopathy with fiber-type disproportion associated with the MYH7 (myosin heavy chain 7) gene on the cytogenetic location 14q11.2 inherited in an autosomal dominant manner.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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