725043006: Autosomal recessive limb girdle muscular dystrophy type 2O (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 2O (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 2O (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 2O (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 2O (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 2O (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 2O (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 2O (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 2O (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 2O (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 2O (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 2O (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 2O (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 2O (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 2O (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 2O (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 2O (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 2O (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 2O (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 2O (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 2O (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 2O (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 2O (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 2O (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 2O (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
3437372012	Autosomal recessive limb girdle muscular dystrophy type 2O (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3437373019	Autosomal recessive limb girdle muscular dystrophy type 2O	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3437374013	Limb-girdle muscular dystrophy 2O POMGNT1 (protein o-mannose beta-1,2-n-acetylglucosaminyltransferase) gene mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3437375014	Limb-girdle muscular dystrophy 2O POMGNT1 gene mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5403369019	A form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403370018	A form of limb-girdle muscular dystrophy characterised by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3437372012	Autosomal recessive limb girdle muscular dystrophy type 2O (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3437373019	Autosomal recessive limb girdle muscular dystrophy type 2O	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3437374013	Limb-girdle muscular dystrophy 2O POMGNT1 (protein o-mannose beta-1,2-n-acetylglucosaminyltransferase) gene mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3437375014	Limb-girdle muscular dystrophy 2O POMGNT1 gene mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3437376010	A form of limb-girdle muscular dystrophy with onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures and myopia. Caused by homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403369019	A form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403370018	A form of limb-girdle muscular dystrophy characterised by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3384251001000117	POMGNT1-assoziierte Gliedergürtelmuskeldystrophie R15	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
976131000172115	dystrophie musculaire des ceintures autosomique récessive type 2O	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
979311000172119	LGMD2O - limb-girdle muscular dystrophy type 2O	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
976131000172115	dystrophie musculaire des ceintures autosomique récessive type 2O	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
979311000172119	LGMD2O - limb-girdle muscular dystrophy type 2O	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3384251001000117	POMGNT1-assoziierte Gliedergürtelmuskeldystrophie R15	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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