719815005: X-linked myopathy with excessive autophagy (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\X-linked myopathy with excessive autophagy
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\X-linked myopathy with excessive autophagy
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\X-linked myopathy with excessive autophagy
• \Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\X-linked myopathy with excessive autophagy
• \Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\X-linked myopathy with excessive autophagy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked myopathy with excessive autophagy
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked myopathy with excessive autophagy
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked myopathy with excessive autophagy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked myopathy with excessive autophagy
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\X-linked myopathy with excessive autophagy
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\X-linked myopathy with excessive autophagy
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\X-linked myopathy with excessive autophagy
• \Disease\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\X-linked myopathy with excessive autophagy
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\X-linked myopathy with excessive autophagy
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\X-linked myopathy with excessive autophagy
• \Disease\Developmental disorder\Developmental hereditary disorder\X-linked myopathy with excessive autophagy
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with cytoplasmic inclusions\X-linked myopathy with excessive autophagy

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3318008013	X-linked myopathy with excessive autophagy (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3318009017	X-linked myopathy with excessive autophagy	en	Synonym	Active	Case sensitive	SNOMED CT core
3318010010	Vacuolar myopathy	en	Synonym	Active	Case insensitive	SNOMED CT core
3318011014	This myopathy is a childhood-onset X-linked myopathy with characteristics of slow progression of muscle weakness and unique histopathological findings. It has been described in about fifteen families The first manifestations appear typically in children around 5-10 years of age and include difficulty climbing stairs and running. Transmission is X-linked recessive; female carriers are asymptomatic or only mildly affected. The Xq28 locus has been associated with the disease.	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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