725907002: Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)

• SNOMED CT Concept\Clinical finding (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 recessive muscular dystrophy with limb girdle distribution (disorder)\Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)
• \Muscle finding (finding)\Disorder of muscle\...
• \Degenerative disorder of muscle (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution (disorder)\Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)
• \Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution (disorder)\Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\...
• \Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution (disorder)\Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)
• \Degenerative disorder of musculoskeletal system (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution (disorder)\Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)
• \Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution (disorder)\Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)
• \Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution (disorder)\Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)
• \Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution (disorder)\Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution (disorder)\Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution (disorder)\Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive muscular dystrophy with limb girdle distribution (disorder)\Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)
• \Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution (disorder)\Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)
• \Disease\Degenerative disorder\Degenerative disorder of muscle (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution (disorder)\Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution (disorder)\Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)
• \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 recessive muscular dystrophy with limb girdle distribution (disorder)\Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Degenerative disorder of musculoskeletal system (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution (disorder)\Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution (disorder)\Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution (disorder)\Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)
• \Disease\Disorder of muscle\Degenerative disorder of muscle (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution (disorder)\Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution (disorder)\Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution (disorder)\Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution (disorder)\Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution (disorder)\Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)
• \Disease\Developmental disorder (disorder)\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution (disorder)\Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3446315013	Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3446316014	Autosomal recessive limb girdle muscular dystrophy type 2Y	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3446317017	Autosomal recessive muscular dystrophy due to LAP1B (lamin-associated protein 1B) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3446318010	Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3446319019	Muscular dystrophy with progressive weakness, distal contracture and rigid spine	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403504010	A form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403505011	A form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterised by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3446315013	Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3446316014	Autosomal recessive limb girdle muscular dystrophy type 2Y	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3446317017	Autosomal recessive muscular dystrophy due to LAP1B (lamin-associated protein 1B) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3446318010	Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3446319019	Muscular dystrophy with progressive weakness, distal contracture and rigid spine	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3446320013	A form of limb-girdle muscular dystrophy presenting in the first or second decades of life with characteristics of slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function and mild cardiomyopathy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403504010	A form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403505011	A form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterised by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3384121001000116	Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2Y	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
998411000172112	dystrophie musculaire des ceintures autosomique récessive avec une atrophie musculaire distale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1000871000172111	dystrophie musculaire des ceintures autosomique récessive type 2Y	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
998411000172112	dystrophie musculaire des ceintures autosomique récessive avec une atrophie musculaire distale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1000871000172111	dystrophie musculaire des ceintures autosomique récessive type 2Y	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3384121001000116	Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2Y	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)

Back to Start