1179297007: LIM zinc finger domain containing 2-related limb girdle muscular dystrophy (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)\LIMS2-related limb girdle muscular dystrophy
• \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)\LIMS2-related limb girdle muscular dystrophy
• \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)\LIMS2-related limb girdle muscular dystrophy
• \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)\LIMS2-related limb girdle muscular dystrophy
• \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)\LIMS2-related limb girdle muscular dystrophy
• \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)\LIMS2-related limb girdle muscular dystrophy
• \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)\LIMS2-related limb girdle muscular dystrophy
• \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)\LIMS2-related limb girdle muscular dystrophy
• \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)\LIMS2-related limb girdle muscular dystrophy
• \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)\LIMS2-related limb girdle muscular dystrophy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive muscular dystrophy with limb girdle distribution (disorder)\LIMS2-related limb girdle muscular dystrophy
• \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)\LIMS2-related limb girdle muscular dystrophy
• \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)\LIMS2-related limb girdle muscular dystrophy
• \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)\LIMS2-related limb girdle muscular dystrophy
• \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)\LIMS2-related limb girdle muscular dystrophy
• \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)\LIMS2-related limb girdle muscular dystrophy
• \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)\LIMS2-related limb girdle muscular dystrophy
• \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)\LIMS2-related limb girdle muscular dystrophy
• \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)\LIMS2-related limb girdle muscular dystrophy
• \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)\LIMS2-related limb girdle muscular dystrophy
• \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)\LIMS2-related limb girdle muscular dystrophy
• \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)\LIMS2-related limb girdle muscular dystrophy
• \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)\LIMS2-related limb girdle muscular dystrophy
• \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)\LIMS2-related limb girdle muscular dystrophy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4650610011	LIMS2-related limb girdle muscular dystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4650611010	Autosomal recessive limb girdle muscular dystrophy type 2W	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4650612015	LIM zinc finger domain containing 2-related limb girdle muscular dystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4650613013	Limb girdle muscular dystrophy type 2W	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4650614019	LIM zinc finger domain containing 2-related limb girdle muscular dystrophy (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4650610011	LIMS2-related limb girdle muscular dystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4650611010	Autosomal recessive limb girdle muscular dystrophy type 2W	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4650612015	LIM zinc finger domain containing 2-related limb girdle muscular dystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4650613013	Limb girdle muscular dystrophy type 2W	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4650614019	LIM zinc finger domain containing 2-related limb girdle muscular dystrophy (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4650615018	A subtype of autosomal recessive limb girdle muscular dystrophy with characteristics of childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadriparesis, calf hypertrophy, triangular tongue and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3412611001000116	Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2W	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6378341000241114	dystrophie musculaire des ceintures de type 2W	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6378351000241112	dystrophie musculaire des ceintures liée à LIMS2 (LIM zinc finger domain containing 2)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6378361000241110	dystrophie musculaire des ceintures autosomique récessive de type 2W	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6378341000241114	dystrophie musculaire des ceintures de type 2W	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6378351000241112	dystrophie musculaire des ceintures liée à LIMS2 (LIM zinc finger domain containing 2)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6378361000241110	dystrophie musculaire des ceintures autosomique récessive de type 2W	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3412611001000116	Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2W	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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