719988004: Autosomal dominant limb girdle muscular dystrophy type 1E (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant limb girdle muscular dystrophy type 1E
• \Muscle finding\Myopathy\...
• \Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant limb girdle muscular dystrophy type 1E
• \Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant limb girdle muscular dystrophy type 1E
• \Musculoskeletal finding\Musculoskeletal disorder\...
• \Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant limb girdle muscular dystrophy type 1E
• \Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant limb girdle muscular dystrophy type 1E
• \Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant limb girdle muscular dystrophy type 1E
• \Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant limb girdle muscular dystrophy type 1E
• \Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant limb girdle muscular dystrophy type 1E
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant limb girdle muscular dystrophy type 1E
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant limb girdle muscular dystrophy type 1E
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant limb girdle muscular dystrophy type 1E
• \Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant limb girdle muscular dystrophy type 1E
• \Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant limb girdle muscular dystrophy type 1E
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant limb girdle muscular dystrophy type 1E
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant limb girdle muscular dystrophy type 1E
• \Disease\Disorder of body system\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant limb girdle muscular dystrophy type 1E
• \Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant limb girdle muscular dystrophy type 1E
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant limb girdle muscular dystrophy type 1E
• \Disease\Myopathy\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant limb girdle muscular dystrophy type 1E
• \Disease\Myopathy\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant limb girdle muscular dystrophy type 1E
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant limb girdle muscular dystrophy type 1E
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant limb girdle muscular dystrophy type 1E
• \Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant limb girdle muscular dystrophy type 1E
• \Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant limb girdle muscular dystrophy type 1E

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3318728018	Autosomal dominant limb girdle muscular dystrophy type 1E (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3318729014	Autosomal dominant limb girdle muscular dystrophy type 1E	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3318730016	A limb-girdle muscular dystrophy with characteristics of skeletal and cardiac myopathy with cardiac conduction defects and muscle cytoplasmic inclusions.	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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