720523006: Autosomal recessive limb girdle muscular dystrophy type 2K (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 2K (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 2K (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 2K (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 2K (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 2K (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 2K (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 2K (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 2K (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 2K (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 2K (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 2K (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 2K (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 2K (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 2K (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 2K (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 2K (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 2K (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 2K (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 2K (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 2K (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 2K (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 2K (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 2K (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 2K (disorder)

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
3321128016	Autosomal recessive limb girdle muscular dystrophy type 2K (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3321129012	Autosomal recessive limb girdle muscular dystrophy type 2K	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3321130019	Limb girdle muscular dystrophy with intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5402397018	A form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402398011	A form of limb-girdle muscular dystrophy characterised by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3321128016	Autosomal recessive limb girdle muscular dystrophy type 2K (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3321129012	Autosomal recessive limb girdle muscular dystrophy type 2K	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3321130019	Limb girdle muscular dystrophy with intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3321130019	Limb girdle muscular dystrophy with intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321131015	Limb-girdle muscular dystrophy type 2K has characteristics of onset of muscle wasting during childhood, associated with intellectual deficit. Moderate muscular hypertrophy and microcephaly are also present. So far, the syndrome has been described in ten boys, the majority of whom came from consanguineous Turkish families. The disease is caused by mutations in the POMT1 gene (chromosome 9) encoding O-mannosyltransferase 1, an enzyme involved in protein glycosylation.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402397018	A form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402398011	A form of limb-girdle muscular dystrophy characterised by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3454061001000114	POMT1-assoziierte Gliedergürtelmuskeldystrophie R11	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
967471000172119	dystrophie musculaire des ceintures autosomique récessive type 2K	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
981581000172112	LGMD2K - limb-girdle muscular dystrophy type 2K	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
967471000172119	dystrophie musculaire des ceintures autosomique récessive type 2K	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
981581000172112	LGMD2K - limb-girdle muscular dystrophy type 2K	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3454061001000114	POMT1-assoziierte Gliedergürtelmuskeldystrophie R11	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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