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:

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 (body structure)	false	Inferred relationship	Some	2
Autosomal dominant limb girdle muscular dystrophy type 1A (disorder)	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some	3
Autosomal dominant limb girdle muscular dystrophy type 1A (disorder)	Associated morphology	Developmental anomaly	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 (body 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
908071000172111	dystrophie musculaire des ceintures autosomique dominante type 1A	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
976511000172118	dystrophie musculaire des ceintures par déficit en myotiline	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
977991000172115	autosomaal dominante bekken- en schoudergordel-spierdystrofie type 1A	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
984111000172110	autosomaal dominante limb-girdle-spierdystrofie type 1A	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)