725907002: autosomaal recessieve 'limb-girdle'-spierdystrofie type 2Y (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\Autosomal recessive limb girdle muscular dystrophy type 2Y (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\Autosomal recessive limb girdle muscular dystrophy type 2Y (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\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\Autosomal recessive limb girdle muscular dystrophy type 2Y (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\Autosomal recessive limb girdle muscular dystrophy type 2Y (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\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\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\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\Autosomal recessive limb girdle muscular dystrophy type 2Y (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\Autosomal recessive limb girdle muscular dystrophy type 2Y (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\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\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\Autosomal recessive limb girdle muscular dystrophy type 2Y (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\Autosomal recessive limb girdle muscular dystrophy type 2Y (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\Autosomal recessive limb girdle muscular dystrophy type 2Y (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\Autosomal recessive limb girdle muscular dystrophy type 2Y (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\Autosomal recessive limb girdle muscular dystrophy type 2Y (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\Autosomal recessive limb girdle muscular dystrophy type 2Y (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\Autosomal recessive limb girdle muscular dystrophy type 2Y (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\Autosomal recessive limb girdle muscular dystrophy type 2Y (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\Autosomal recessive limb girdle muscular dystrophy type 2Y (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\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\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\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\Autosomal recessive limb girdle muscular dystrophy type 2Y (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\Autosomal recessive limb girdle muscular dystrophy type 2Y (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\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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)	Is a	Autosomal recessive muscular dystrophy with limb girdle distribution	true	Inferred relationship	Some
Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
6700411000146113	LGMD2Y	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6828001000146113	spierdystrofie met progressieve zwakte, distale contracturen en rigide wervelkolom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7881671000146112	autosomaal recessieve gordeldystrofie type 2Y	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7881681000146114	'limb-girdle'-spierdystrofie door torsine-1A-interagerend proteïne 1-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7881691000146111	autosomaal recessieve 'limb-girdle'-spierdystrofie type 2Y	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7881701000146111	'limb-girdle muscular dystrophy' door LAP1B-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7881711000146113	autosomaal recessieve 'limb-girdle'-spierdystrofie type 2Y (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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