1208414002: Autosomal recessive congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle 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 ACTA1 mutation\Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 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 ACTA1 mutation\Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 mutation
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\Congenital fibre-type disproportion myopathy due to ACTA1 mutation\Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 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 ACTA1 mutation\Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 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 ACTA1 mutation\Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 mutation
• \Disease\Genetic disease\Congenital myopathy with fibre type disproportion\Congenital fibre-type disproportion myopathy due to ACTA1 mutation\Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 mutation
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital fibre-type disproportion myopathy due to ACTA1 mutation\Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 mutation
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital fibre-type disproportion myopathy due to ACTA1 mutation\Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 mutation
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Congenital fibre-type disproportion myopathy due to ACTA1 mutation\Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 mutation
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 mutation
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital fibre-type disproportion myopathy due to ACTA1 mutation\Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 mutation
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Congenital fibre-type disproportion myopathy due to ACTA1 mutation\Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 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 ACTA1 mutation\Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 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 ACTA1 mutation\Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 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 ACTA1 mutation\Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 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 ACTA1 mutation\Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 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 ACTA1 mutation\Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 mutation
• \Disease\Developmental disorder\Developmental hereditary disorder\Congenital fibre-type disproportion myopathy due to ACTA1 mutation\Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 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 ACTA1 mutation\Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 mutation

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4964324013	Autosomal recessive congenital fibre-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation	en	Synonym	Active	Case insensitive	SNOMED CT core
4964325014	Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 mutation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4964326010	Autosomal recessive congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation	en	Synonym	Active	Case insensitive	SNOMED CT core
4964327018	Autosomal recessive congenital fiber-type disproportion myopathy due to ACTA1 mutation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4964328011	Autosomal recessive congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4964336019	A rare autosomal recessive congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Causative gene mutation is ACTA1 (1q42.13).	en	Definition	Active	Case sensitive	SNOMED CT core
4964337011	A rare autosomal recessive congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Causative gene mutation is ACTA1 (1q42.13).	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Australian dialect reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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