1208417009: Autosomal recessive congenital fiber-type disproportion myopathy due to tropomyosin 3 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 fibre-type disproportion myopathy due to TPM3 mutation\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 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 fibre-type disproportion myopathy due to TPM3 mutation\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\...
• \Hereditary disorder of musculoskeletal system\Congenital fibre-type disproportion myopathy due to TPM3 mutation\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 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 fibre-type disproportion myopathy due to TPM3 mutation\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 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 fibre-type disproportion myopathy due to TPM3 mutation\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation
• \Disease\Genetic disease\Congenital myopathy with fibre type disproportion\Congenital fibre-type disproportion myopathy due to TPM3 mutation\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Congenital fibre-type disproportion myopathy due to TPM3 mutation\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital fibre-type disproportion myopathy due to TPM3 mutation\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Congenital fibre-type disproportion myopathy due to TPM3 mutation\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 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 fibre-type disproportion myopathy due to TPM3 mutation\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Congenital fibre-type disproportion myopathy due to TPM3 mutation\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Congenital fibre-type disproportion myopathy due to TPM3 mutation\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 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 fibre-type disproportion myopathy due to TPM3 mutation\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 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 fibre-type disproportion myopathy due to TPM3 mutation\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 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 fibre-type disproportion myopathy due to TPM3 mutation\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 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 fibre-type disproportion myopathy due to TPM3 mutation\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Congenital fibre-type disproportion myopathy due to TPM3 mutation\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 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 fibre-type disproportion myopathy due to TPM3 mutation\Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4964346017	Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4964347014	Autosomal recessive congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4964348016	Autosomal recessive congenital fibre-type disproportion myopathy due to tropomyosin 3 mutation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4964349012	Autosomal recessive congenital fibre-type disproportion myopathy due to TPM3 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4964350012	Autosomal recessive congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4964351011	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 TPM3 (1q21.3).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4964352016	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 TPM3 (1q21.3).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4964346017	Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4964347014	Autosomal recessive congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4964348016	Autosomal recessive congenital fibre-type disproportion myopathy due to tropomyosin 3 mutation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4964349012	Autosomal recessive congenital fibre-type disproportion myopathy due to TPM3 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4964350012	Autosomal recessive congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4964351011	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 TPM3 (1q21.3).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4964352016	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 TPM3 (1q21.3).	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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