1279884000: 'protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2'-gerelateerde 'limb-girdle'-spierdystrofie type R24 (aandoening)

• 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\Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 (disorder)
• \Muscle finding\Disorder of muscle\...
• \Hereditary myopathy (disorder)\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 (disorder)
• \Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 (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\Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\...
• \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\Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 (disorder)
• \Degenerative disorder 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\Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 (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\Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 (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\Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 (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\Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary myopathy (disorder)\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 (disorder)
• \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 recessive muscular dystrophy with limb girdle distribution\Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 (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\Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive muscular dystrophy with limb girdle distribution\Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 (disorder)
• \Disease\Degenerative disorder\Degenerative disorder 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\Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 (disorder)
• \Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 (disorder)
• \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 recessive muscular dystrophy with limb girdle distribution\Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\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\Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder 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\Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\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\Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\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\Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 (disorder)
• \Disease\Disorder of muscle\Hereditary myopathy (disorder)\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 (disorder)
• \Disease\Disorder of muscle\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 (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\Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 (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\Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 (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\Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 (disorder)
• \Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution\Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2023. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5234336010	Limb girdle muscular dystrophy type R24	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5234337018	Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5234338011	POMGNT2-related limb girdle muscular dystrophy R24	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5234339015	POMGNT2-related muscular dystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5234340018	Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
14338591000146115	POMGNT2-gerelateerde LGMD R24	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14338601000146113	'protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2'-gerelateerde 'limb-girdle'-spierdystrofie type R24	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14338611000146110	'protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2'-gerelateerde 'limb-girdle'-spierdystrofie type R24 (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14338621000146117	POMGNT2-gerelateerde 'limb-girdle'-spierdystrofie type R24	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14338631000146115	POMGNT2-gerelateerde gordeldystrofie R24	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
5234341019	A rare autosomal recessive limb girdle muscular dystrophy with characteristics of infantile to adolescent onset of a milder form of limb-girdle muscular dystrophy with or without intellectual disability. Patients present variable proximal limb muscular weakness with calf hypertrophy and elevated serum creatine kinase.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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