764945007: Congenital myopathy with internal nuclei and atypical cores (disorder)

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

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3655707019	Centronuclear myopathy type 4	en	Synonym	Active	Case insensitive	SNOMED CT core
3655708012	Congenital myopathy with internal nuclei and atypical cores (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3655709016	Congenital myopathy with internal nuclei and atypical cores	en	Synonym	Active	Case insensitive	SNOMED CT core
3655710014	A rare genetic skeletal muscle disease with characteristics of neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.	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

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