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

Status: current, Primitive. Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4945912012	Congenital fiber-type disproportion myopathy due to ZAK mutation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4945913019	Congenital fiber-type disproportion myopathy due to ZAK mutation (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
4945914013	Congenital fibre-type disproportion myopathy due to ZAK mutation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4945915014	CNM6 - centronuclear myopathy 6	en	Synonym	Active	Case sensitive	SNOMED CT core
4945918011	A rare genetic congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by homozygous mutation in the ZAK gene on chromosome 2q31.	en	Definition	Active	Case sensitive	SNOMED CT core
4945919015	A rare genetic congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Caused by homozygous mutation in the ZAK gene on chromosome 2q31.	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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