719985001: Autosomal dominant limb girdle muscular dystrophy type 1A (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 dominant muscular dystrophy with limb girdle distribution\Autosomal dominant limb girdle muscular dystrophy type 1A (disorder)

\Muscle finding\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 limb girdle muscular dystrophy type 1A (disorder)

\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 limb girdle muscular dystrophy type 1A (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 dominant muscular dystrophy with limb girdle distribution\Autosomal dominant limb girdle muscular dystrophy type 1A (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 limb girdle muscular dystrophy type 1A (disorder)

\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 limb girdle muscular dystrophy type 1A (disorder)

\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 limb girdle muscular dystrophy type 1A (disorder)

\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 limb girdle muscular dystrophy type 1A (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 dominant muscular dystrophy with limb girdle distribution\Autosomal dominant limb girdle muscular dystrophy type 1A (disorder)
\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 limb girdle muscular dystrophy type 1A (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant muscular dystrophy with limb girdle distribution\Autosomal dominant limb girdle muscular dystrophy type 1A (disorder)
\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 limb girdle muscular dystrophy type 1A (disorder)
\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 limb girdle muscular dystrophy type 1A (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 dominant muscular dystrophy with limb girdle distribution\Autosomal dominant limb girdle muscular dystrophy type 1A (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 dominant muscular dystrophy with limb girdle distribution\Autosomal dominant limb girdle muscular dystrophy type 1A (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 dominant muscular dystrophy with limb girdle distribution\Autosomal dominant limb girdle muscular dystrophy type 1A (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 dominant muscular dystrophy with limb girdle distribution\Autosomal dominant limb girdle muscular dystrophy type 1A (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 dominant muscular dystrophy with limb girdle distribution\Autosomal dominant limb girdle muscular dystrophy type 1A (disorder)
\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 limb girdle muscular dystrophy type 1A (disorder)
\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 limb girdle muscular dystrophy type 1A (disorder)
\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 limb girdle muscular dystrophy type 1A (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 dominant muscular dystrophy with limb girdle distribution\Autosomal dominant limb girdle muscular dystrophy type 1A (disorder)
\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 limb girdle muscular dystrophy type 1A (disorder)
\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 limb girdle muscular dystrophy type 1A (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

3318715013 Autosomal dominant limb girdle muscular dystrophy type 1A (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3318716014 Autosomal dominant limb girdle muscular dystrophy type 1A en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3318717017 Limb girdle muscular dystrophy due to myotilin deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3318719019 Limb-girdle muscular dystrophy 1A myotilin myopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3318718010 A limb girdle muscular dystrophy caused by myotilin deficiency with characteristics of limb-girdle weakness in combination with dysarthria. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3912531000052119 autosomalt dominant muskeldystrofi i skulder-bäckengördel, typ 1A sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant limb girdle muscular dystrophy type 1A (disorder)	Is a	Autosomal dominant muscular dystrophy with limb girdle distribution	true	Inferred relationship	Some
Autosomal dominant limb girdle muscular dystrophy type 1A (disorder)	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Autosomal dominant limb girdle muscular dystrophy type 1A (disorder)	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	3
Autosomal dominant limb girdle muscular dystrophy type 1A (disorder)	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	2
Autosomal dominant limb girdle muscular dystrophy type 1A (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Autosomal dominant limb girdle muscular dystrophy type 1A (disorder)	Associated morphology	Dystrophy	false	Inferred relationship	Some	3
Autosomal dominant limb girdle muscular dystrophy type 1A (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Autosomal dominant limb girdle muscular dystrophy type 1A (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Autosomal dominant limb girdle muscular dystrophy type 1A (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal dominant limb girdle muscular dystrophy type 1A (disorder)	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
3318715013	Autosomal dominant limb girdle muscular dystrophy type 1A (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3318716014	Autosomal dominant limb girdle muscular dystrophy type 1A	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3318717017	Limb girdle muscular dystrophy due to myotilin deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3318719019	Limb-girdle muscular dystrophy 1A myotilin myopathy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3318718010	A limb girdle muscular dystrophy caused by myotilin deficiency with characteristics of limb-girdle weakness in combination with dysarthria.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3912531000052119	autosomalt dominant muskeldystrofi i skulder-bäckengördel, typ 1A	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)