719985001: Autosomal dominant limb girdle muscular dystrophy type 1A (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy (disorder)\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.
• \Muscle finding\Disorder of muscle\...
• \Degenerative disorder of muscle\Muscular dystrophy (disorder)\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.
• \Disorder of skeletal muscle\Muscular dystrophy (disorder)\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.
• \Musculoskeletal finding\Disorder of musculoskeletal system (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\A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.
• \Degenerative disorder of musculoskeletal system\Muscular dystrophy (disorder)\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.
• \Chronic disease of musculoskeletal system\Muscular dystrophy (disorder)\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.
• \Disorder of skeletal muscle\Muscular dystrophy (disorder)\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.
• \Disease\Genetic disease\Muscular dystrophy (disorder)\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.
• \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\A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.
• \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\A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\Autosomal dominant muscular dystrophy with limb girdle distribution\A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.
• \Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy (disorder)\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.
• \Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy (disorder)\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.
• \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\A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (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\A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Degenerative disorder of musculoskeletal system\Muscular dystrophy (disorder)\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Muscular dystrophy (disorder)\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Muscular dystrophy (disorder)\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.
• \Disease\Disorder of muscle\Degenerative disorder of muscle\Muscular dystrophy (disorder)\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy (disorder)\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy (disorder)\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy (disorder)\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.
• \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\A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.
• \Disease\Developmental disorder\Muscular dystrophy (disorder)\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.

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
5402294011	A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402295012	A rare subtype of autosomal dominant limb girdle muscular dystrophy characterised by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318715013	Autosomal dominant limb girdle muscular dystrophy type 1A (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3318716014	Autosomal dominant limb girdle muscular dystrophy type 1A	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3318717017	Limb girdle muscular dystrophy due to myotilin deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3318719019	Limb-girdle muscular dystrophy 1A myotilin myopathy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
908071000172111	dystrophie musculaire des ceintures autosomique dominante type 1A	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
976511000172118	dystrophie musculaire des ceintures par déficit en myotiline	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3449421001000113	Gliedergürtelmuskeldystrophie, autosomal-dominante, Typ 1A	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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