240046001: '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

\Muscle finding\Disorder of muscle\...

\Hereditary myopathy (disorder)\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution

\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution

\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal 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

\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution

\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution

\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution

\Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution
\Disease\Genetic disease\Hereditary disease\Hereditary myopathy (disorder)\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal 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
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal 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
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal 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
\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
\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
\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
\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
\Disease\Disorder of muscle\Hereditary myopathy (disorder)\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal 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
\Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal 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
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution
\Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal 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
Muscular dystrophy with predominantly proximal limb girdle distribution	Is a	'limb-girdle'-spierdystrofie (aandoening)	false	Inferred relationship	Some
Muscular dystrophy with predominantly proximal limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Muscular dystrophy with predominantly proximal limb girdle distribution	Associated morphology	Dystrophy	false	Inferred relationship	Some	1
Muscular dystrophy with predominantly proximal limb girdle distribution	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Muscular dystrophy with predominantly proximal limb girdle distribution	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Muscular dystrophy with predominantly proximal limb girdle distribution	Is a	Hereditary progressive muscular dystrophy	true	Inferred relationship	Some
Muscular dystrophy with predominantly proximal limb girdle distribution	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Muscular dystrophy with predominantly proximal limb girdle distribution	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
X-linked muscular dystrophy with limb girdle distribution	Is a	True	Muscular dystrophy with predominantly proximal limb girdle distribution	Inferred relationship	Some
Autosomal recessive muscular dystrophy with limb girdle distribution	Is a	True	Muscular dystrophy with predominantly proximal limb girdle distribution	Inferred relationship	Some
Autosomal dominant muscular dystrophy with limb girdle distribution	Is a	True	Muscular dystrophy with predominantly proximal limb girdle distribution	Inferred relationship	Some
congenitale spierdystrofie	Is a	False	Muscular dystrophy with predominantly proximal limb girdle distribution	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
359640012	Muscular dystrophy with predominantly proximal limb girdle distribution	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
629136012	Muscular dystrophy with predominantly proximal limb girdle distribution (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3758293014	Limb-girdle muscular dystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7875191000146110	'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)
7875201000146112	'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)
7901681000146115	limb-girdle muscular dystrophy	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7901691000146118	LGMD	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7901701000146118	gordeldystrofie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7875251000146113	Dit is een erfelijke aandoening waarbij de spieren van met name schouders, bovenarmen, heupen en bovenbenen niet of onvoldoende functioneren.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)