1201964008: Congenital fiber-type disproportion myopathy due to ZAK 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 ZAK 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 ZAK mutation
• \Musculoskeletal finding\Disorder of musculoskeletal system\...
• \Hereditary disorder of musculoskeletal system\Congenital fiber-type disproportion myopathy due to ZAK 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 ZAK 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 ZAK mutation
• \Disease\Genetic disease\Congenital myopathy with fiber type disproportion\Congenital fiber-type disproportion myopathy due to ZAK mutation
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital fiber-type disproportion myopathy due to ZAK mutation
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital fiber-type disproportion myopathy due to ZAK mutation
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital fiber-type disproportion myopathy due to ZAK mutation
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital fiber-type disproportion myopathy due to ZAK mutation
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Congenital fiber-type disproportion myopathy due to ZAK 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 ZAK 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 ZAK 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 ZAK 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 ZAK 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 ZAK mutation
• \Disease\Developmental disorder\Developmental hereditary disorder\Congenital fiber-type disproportion myopathy due to ZAK 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 ZAK mutation

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 28-Feb 2022. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4945912012	Congenital fiber-type disproportion myopathy due to ZAK mutation	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
4945913019	Congenital fiber-type disproportion myopathy due to ZAK mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
4945914013	Congenital fibre-type disproportion myopathy due to ZAK mutation	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
4945915014	CNM6 - centronuclear myopathy 6	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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