1179294000: Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\...
• \Myofibrillar myopathy\Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome
• \Myoneural disorder\Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome
• \Muscle finding (finding)\Disorder of muscle\Disorder of skeletal muscle\...
• \Myofibrillar myopathy\Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome
• \Myoneural disorder\Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\...
• \Hereditary disorder of musculoskeletal system\Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome
• \Disorder of skeletal muscle\Myofibrillar myopathy\Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome
• \Disorder of skeletal muscle\Myoneural disorder\Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Autosomal dominant distal hereditary motor neuropathy (disorder)\Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant distal hereditary motor neuropathy (disorder)\Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Autosomal dominant distal hereditary motor neuropathy (disorder)\Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Peripheral motor neuropathy\Autosomal dominant distal hereditary motor neuropathy (disorder)\Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Autosomal dominant distal hereditary motor neuropathy (disorder)\Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\Myoneural disorder\Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\Peripheral motor neuropathy\Autosomal dominant distal hereditary motor neuropathy (disorder)\Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Myofibrillar myopathy\Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Myoneural disorder\Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Myofibrillar myopathy\Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Myoneural disorder\Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myofibrillar myopathy\Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4650583011	Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4650584017	Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5399482016	A rare genetic neuromuscular disease characterized by length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles. Age of onset is typically in the second to third decade of life. Patients present with slowly progressive muscle weakness and atrophy initially affecting the distal lower limbs and later progressing to involve proximal limbs and also truncal muscles. There is no involvement of respiratory and cardiac muscles.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399483014	A rare genetic neuromuscular disease characterised by length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles. Age of onset is typically in the second to third decade of life. Patients present with slowly progressive muscle weakness and atrophy initially affecting the distal lower limbs and later progressing to involve proximal limbs and also truncal muscles. There is no involvement of respiratory and cardiac muscles.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4650583011	Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4650584017	Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4650585016	A rare genetic neuromuscular disease with characteristics of length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles. Age of onset is typically in the second to third decade of life. Patients present with slowly progressive muscle weakness and atrophy initially affecting the distal lower limbs and later progressing to involve proximal limbs and also truncal muscles. There is no involvement of respiratory and cardiac muscles.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399482016	A rare genetic neuromuscular disease characterized by length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles. Age of onset is typically in the second to third decade of life. Patients present with slowly progressive muscle weakness and atrophy initially affecting the distal lower limbs and later progressing to involve proximal limbs and also truncal muscles. There is no involvement of respiratory and cardiac muscles.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399483014	A rare genetic neuromuscular disease characterised by length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles. Age of onset is typically in the second to third decade of life. Patients present with slowly progressive muscle weakness and atrophy initially affecting the distal lower limbs and later progressing to involve proximal limbs and also truncal muscles. There is no involvement of respiratory and cardiac muscles.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3447601001000112	Autosomal-dominante distale axonale motorische Neuropathie-myofibrilläre Myopathie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5808021000241112	syndrome autosomique dominant de neuropathie motrice axonale distale et de myopathie myofibrillaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5808021000241112	syndrome autosomique dominant de neuropathie motrice axonale distale et de myopathie myofibrillaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3447601001000112	Autosomal-dominante distale axonale motorische Neuropathie-myofibrilläre Myopathie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

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Component annotation with string value reference set (foundation metadata concept)

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