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

• SNOMED CT Concept\Clinical 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\Myopathy\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\Musculoskeletal 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\Hereditary disorder of nervous system\Autosomal dominant distal hereditary motor neuropathy\Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\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\Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal dominant distal hereditary motor neuropathy\Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Peripheral motor neuropathy\Autosomal dominant distal hereditary motor neuropathy\Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Autosomal dominant distal hereditary motor neuropathy\Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Myoneural disorder\Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Peripheral motor neuropathy\Autosomal dominant distal hereditary motor neuropathy\Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Myofibrillar myopathy\Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Myoneural disorder\Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome
• \Disease\Myopathy\Disorder of skeletal muscle\Myofibrillar myopathy\Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome
• \Disease\Myopathy\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, Primitive. 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	Active	Case insensitive	SNOMED CT core
4650584017	Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome (disorder)	en	Fully specified name	Active	Case insensitive	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	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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