1202024009: Autosomal dominant congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion\Congenital fiber-type disproportion myopathy due to SELENON mutation\Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation
• \Muscle finding (finding)\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion\Congenital fiber-type disproportion myopathy due to SELENON mutation\Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\...
• \Hereditary disorder of musculoskeletal system\Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation
• \Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion\Congenital fiber-type disproportion myopathy due to SELENON mutation\Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation
• \Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle (disorder)\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion\Congenital fiber-type disproportion myopathy due to SELENON mutation\Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation
• \Disease\Genetic disease\Congenital myopathy with fibre type disproportion\Congenital fiber-type disproportion myopathy due to SELENON mutation\Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle (disorder)\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion\Congenital fiber-type disproportion myopathy due to SELENON mutation\Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion\Congenital fiber-type disproportion myopathy due to SELENON mutation\Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle (disorder)\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion\Congenital fiber-type disproportion myopathy due to SELENON mutation\Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion\Congenital fiber-type disproportion myopathy due to SELENON mutation\Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle (disorder)\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion\Congenital fiber-type disproportion myopathy due to SELENON mutation\Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle (disorder)\Myopathy with abnormality of histochemical fibre type\Congenital myopathy with fibre type disproportion\Congenital fiber-type disproportion myopathy due to SELENON mutation\Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4946208017	Autosomal dominant congenital fibre-type disproportion myopathy due to selenoprotein N mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4946209013	Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4946210015	Autosomal dominant congenital fiber-type disproportion myopathy due to selenoprotein N mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4946211016	Autosomal dominant congenital fiber-type disproportion myopathy due to SELENON mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4946212011	Autosomal dominant congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4946222017	A rare autosomal dominant congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by SELENON (1p36.11) gene mutation.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4946223010	A rare autosomal dominant congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Caused by SELENON (1p36.11) gene mutation.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4946208017	Autosomal dominant congenital fibre-type disproportion myopathy due to selenoprotein N mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4946209013	Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4946210015	Autosomal dominant congenital fiber-type disproportion myopathy due to selenoprotein N mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4946211016	Autosomal dominant congenital fiber-type disproportion myopathy due to SELENON mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4946212011	Autosomal dominant congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4946222017	A rare autosomal dominant congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Caused by SELENON (1p36.11) gene mutation.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4946223010	A rare autosomal dominant congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Caused by SELENON (1p36.11) gene mutation.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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