240069003: laat optredende proximale spierdystrofie met dysartrie (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 dominant muscular dystrophy with limb girdle distribution\Autosomal dominant muscular dystrophy with gene located at 5q31\Late onset proximal muscular dystrophy with dysarthria

\Muscle finding\Disorder of muscle\...

\Hereditary myopathy (disorder)\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant muscular dystrophy with gene located at 5q31\Late onset proximal muscular dystrophy with dysarthria

\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant muscular dystrophy with gene located at 5q31\Late onset proximal muscular dystrophy with dysarthria

\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant muscular dystrophy with gene located at 5q31\Late onset proximal muscular dystrophy with dysarthria

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant muscular dystrophy with gene located at 5q31\Late onset proximal muscular dystrophy with dysarthria

\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant muscular dystrophy with gene located at 5q31\Late onset proximal muscular dystrophy with dysarthria

\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant muscular dystrophy with gene located at 5q31\Late onset proximal muscular dystrophy with dysarthria

\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant muscular dystrophy with gene located at 5q31\Late onset proximal muscular dystrophy with dysarthria

\Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant muscular dystrophy with gene located at 5q31\Late onset proximal muscular dystrophy with dysarthria
\Disease\Genetic disease\Hereditary disease\Hereditary myopathy (disorder)\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant muscular dystrophy with gene located at 5q31\Late onset proximal muscular dystrophy with dysarthria
\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 dominant muscular dystrophy with limb girdle distribution\Autosomal dominant muscular dystrophy with gene located at 5q31\Late onset proximal muscular dystrophy with dysarthria
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant muscular dystrophy with gene located at 5q31\Late onset proximal muscular dystrophy with dysarthria
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant muscular dystrophy with gene located at 5q31\Late onset proximal muscular dystrophy with dysarthria
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant muscular dystrophy with gene located at 5q31\Late onset proximal muscular dystrophy with dysarthria
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant muscular dystrophy with gene located at 5q31\Late onset proximal muscular dystrophy with dysarthria
\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 dominant muscular dystrophy with limb girdle distribution\Autosomal dominant muscular dystrophy with gene located at 5q31\Late onset proximal muscular dystrophy with dysarthria
\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 dominant muscular dystrophy with limb girdle distribution\Autosomal dominant muscular dystrophy with gene located at 5q31\Late onset proximal muscular dystrophy with dysarthria
\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 dominant muscular dystrophy with limb girdle distribution\Autosomal dominant muscular dystrophy with gene located at 5q31\Late onset proximal muscular dystrophy with dysarthria
\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 dominant muscular dystrophy with limb girdle distribution\Autosomal dominant muscular dystrophy with gene located at 5q31\Late onset proximal muscular dystrophy with dysarthria
\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 dominant muscular dystrophy with limb girdle distribution\Autosomal dominant muscular dystrophy with gene located at 5q31\Late onset proximal muscular dystrophy with dysarthria
\Disease\Disorder of muscle\Hereditary myopathy (disorder)\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant muscular dystrophy with gene located at 5q31\Late onset proximal muscular dystrophy with dysarthria
\Disease\Disorder of muscle\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant muscular dystrophy with gene located at 5q31\Late onset proximal muscular dystrophy with dysarthria
\Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant muscular dystrophy with gene located at 5q31\Late onset proximal muscular dystrophy with dysarthria
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant muscular dystrophy with gene located at 5q31\Late onset proximal muscular dystrophy with dysarthria
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant muscular dystrophy with gene located at 5q31\Late onset proximal muscular dystrophy with dysarthria
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant muscular dystrophy with gene located at 5q31\Late onset proximal muscular dystrophy with dysarthria
\Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant muscular dystrophy with gene located at 5q31\Late onset proximal muscular dystrophy with dysarthria

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
Late onset proximal muscular dystrophy with dysarthria	Is a	Autosomal dominant muscular dystrophy with gene located at 5q31	true	Inferred relationship	Some
Late onset proximal muscular dystrophy with dysarthria	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Late onset proximal muscular dystrophy with dysarthria	Occurrence	Congenital	false	Inferred relationship	Some
Late onset proximal muscular dystrophy with dysarthria	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	2
Late onset proximal muscular dystrophy with dysarthria	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Late onset proximal muscular dystrophy with dysarthria	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Late onset proximal muscular dystrophy with dysarthria	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Late onset proximal muscular dystrophy with dysarthria	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Late onset proximal muscular dystrophy with dysarthria	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Late onset proximal muscular dystrophy with dysarthria	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Late onset proximal muscular dystrophy with dysarthria	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Late onset proximal muscular dystrophy with dysarthria	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Late onset proximal muscular dystrophy with dysarthria	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Late onset proximal muscular dystrophy with dysarthria	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Late onset proximal muscular dystrophy with dysarthria	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Late onset proximal muscular dystrophy with dysarthria	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Late onset proximal muscular dystrophy with dysarthria	Occurrence	Congenital	false	Inferred relationship	Some	3
Late onset proximal muscular dystrophy with dysarthria	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	3
Late onset proximal muscular dystrophy with dysarthria	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	3
Late onset proximal muscular dystrophy with dysarthria	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Late onset proximal muscular dystrophy with dysarthria	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
359668011	Gilchrist type muscular dystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
359669015	Late onset proximal muscular dystrophy with dysarthria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
629161010	Late onset proximal muscular dystrophy with dysarthria (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6198521000146112	laat optredende proximale spierdystrofie met dysartrie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6198531000146114	laat optredende proximale spierdystrofie met dysartrie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)