240054004: autosomaal recessieve 'limb-girdle' spierdystrofie (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

\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

\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

\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

\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

\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

\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 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

\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
\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
\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
\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
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive muscular dystrophy with limb girdle distribution
\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
\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
\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
\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
\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
\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
\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
\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
\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
\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
\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
\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
\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
\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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive muscular dystrophy with limb girdle distribution	Is a	Muscular dystrophy with predominantly proximal limb girdle distribution	true	Inferred relationship	Some
Autosomal recessive muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Autosomal recessive muscular dystrophy with limb girdle distribution	Associated morphology	Dystrophy	false	Inferred relationship	Some	1
Autosomal recessive muscular dystrophy with limb girdle distribution	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Autosomal recessive muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Autosomal recessive muscular dystrophy with limb girdle distribution	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive muscular dystrophy with limb girdle distribution	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Autosomal recessive muscular dystrophy with limb girdle distribution	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal recessive muscular dystrophy with limb girdle distribution	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2
Autosomal recessive muscular dystrophy with limb girdle distribution	Is a	Hereditary myopathy (disorder)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Some
autosomaal recessieve spierdystrofie met gen op 15q	Is a	False	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Some
congenitale spierdystrofie	Is a	False	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Some
Hutterite type of muscular dystrophy	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Some
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Some
Severe childhood autosomal recessive muscular dystrophy	Is a	False	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Some
Autosomal recessive limb girdle muscular dystrophy type 2D (disorder)	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Some
Autosomal recessive limb girdle muscular dystrophy type 2A (disorder)	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Some
Autosomal recessive limb girdle muscular dystrophy type 2C (disorder)	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Some
Autosomal recessive limb girdle muscular dystrophy type 2F (disorder)	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Some
autosomaal dominante 'limb-girdle'-spierdystrofie type 1B	Is a	False	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Some
Autosomal recessive limb girdle muscular dystrophy type 2B (disorder)	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Some
Autosomal recessive limb girdle muscular dystrophy type 2I (disorder)	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Some
Autosomal recessive limb girdle muscular dystrophy type 2E (disorder)	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Some
Autosomal recessive limb girdle muscular dystrophy type 2G (disorder)	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Some
Autosomal recessive limb girdle muscular dystrophy type 2K (disorder)	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Some
Epidermolysis bullosa simplex with muscular dystrophy (disorder)	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Some
Autosomal recessive limb girdle muscular dystrophy type 2J (disorder)	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Some
Autosomal recessive limb girdle muscular dystrophy type 2O (disorder)	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Some
Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder)	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Some
Autosomal recessive limb girdle muscular dystrophy type 2P (disorder)	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Some
Autosomal recessive limb girdle muscular dystrophy type 2Q (disorder)	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Some
Autosomal recessive limb girdle muscular dystrophy type 2L (disorder)	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Some
Autosomal recessive limb girdle muscular dystrophy type 2N (disorder)	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Some
Autosomal recessive limb girdle muscular dystrophy type 2M (disorder)	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Some
Autosomal recessive limb girdle muscular dystrophy type 2S (disorder)	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Some
Autosomal recessive limb girdle muscular dystrophy type 2T (disorder)	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Some
autosomaal recessieve 'limb-girdle'-spierdystrofie type 2R (aandoening)	Is a	False	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Some
Autosomal recessive limb girdle muscular dystrophy type 2U	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Some
Reunion-Indiana Amish type muscular dystrophy	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Some
POGLUT1-related limb girdle muscular dystrophy R21	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Some
Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder)	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Some
LIMS2-related limb girdle muscular dystrophy	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Some
Limb girdle muscular dystrophy due to POMK deficiency	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Some
Laminin alpha-2 related limb girdle muscular dystrophy R23 (disorder)	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Some
Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 (disorder)	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Some

Reference Sets

Dutch rare neuromuscular disorders simple reference set (foundation metadata concept)

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
359650013	Autosomal recessive muscular dystrophy with limb girdle distribution	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
629144012	Autosomal recessive muscular dystrophy with limb girdle distribution (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1262891000146111	autosomaal recessieve 'limb-girdle' spierdystrofie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1262901000146112	autosomaal recessieve 'limb-girdle' spierdystrofie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1263261000146113	AR-LGMD	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)