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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318009017	X-linked myopathy with excessive autophagy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318010010	Vacuolar myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5402223010	X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterized by slow progression of muscle weakness and unique histopathological findings.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402224016	X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318008013	X-linked myopathy with excessive autophagy (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318009017	X-linked myopathy with excessive autophagy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318010010	Vacuolar myopathy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3318010010	Vacuolar myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402223010	X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterized by slow progression of muscle weakness and unique histopathological findings.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402224016	X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3443801001000118	Myopathie mit exzessiver Autophagie, X-chromosomal	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
879451000172119	myopathie vacuolaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
994111000172111	myopathie avec autophagie excessive liée à l'X	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
879451000172119	myopathie vacuolaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
994111000172111	myopathie avec autophagie excessive liée à l'X	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3443801001000118	Myopathie mit exzessiver Autophagie, X-chromosomal	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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