716696006: Autosomal dominant centronuclear myopathy (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal dominant centronuclear myopathy
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal dominant centronuclear myopathy
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\Autosomal dominant centronuclear myopathy
• \Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal dominant centronuclear myopathy
• \Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal dominant centronuclear myopathy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant centronuclear myopathy
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal dominant centronuclear myopathy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant centronuclear myopathy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant centronuclear myopathy
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Autosomal dominant centronuclear myopathy
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal dominant centronuclear myopathy
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal dominant centronuclear myopathy
• \Disease\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal dominant centronuclear myopathy
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal dominant centronuclear myopathy
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal dominant centronuclear myopathy
• \Disease\Developmental disorder\Developmental hereditary disorder\Autosomal dominant centronuclear myopathy
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal dominant centronuclear myopathy

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3307231010	Autosomal dominant centronuclear myopathy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3307232015	Autosomal dominant centronuclear myopathy	en	Synonym	Active	Case insensitive	SNOMED CT core
3307233013	An inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. The exact prevalence remains unknown. Most commonly, the age of onset is in adolescence, although earlier presentations in infancy or childhood have been reported. Muscle weakness of variable severity is the major clinical manifestation. Mutations in the dynamin 2 (DNM2) gene on chromosome 19p13.2 are responsible.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Unit of use quantity reference set

Description inactivation indicator reference set

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