43152001: Central core disease (disorder)

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

Status: current, Defined. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2966549015	Central core myopathy	en	Synonym	Active	Case insensitive	SNOMED CT core
71981018	Central core disease	en	Synonym	Active	Case insensitive	SNOMED CT core
780131019	Central core disease (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4945364013	An inherited neuromuscular disorder with characteristics of central cores on muscle biopsy and clinical features of a congenital myopathy. Typical presentation is in infancy with hypotonia and motor developmental delay and predominantly proximal weakness pronounced in the hip girdle. Caused by (predominantly dominant) mutations in the skeletal muscle ryanodine receptor (RYR1) gene, encoding the principal skeletal muscle sarcoplasmic reticulum calcium release channel (RyR1). Altered excitability and/or changes in calcium homeostasis within muscle cells due to mutation-induced conformational changes in the RyR protein are considered to be the main pathogenetic mechanism(s).	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

Back to Start