719988004: Autosomal dominant limb girdle muscular dystrophy type 1E (disorder)

SNOMED CT Concept\Clinical 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 1E

\Muscle finding\Disorder of skeletal AND/OR smooth 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 1E

\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 1E

\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 1E

\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 1E

\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 1E

\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 1E

\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 1E
\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 1E
\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 1E
\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 1E
\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 1E
\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 1E
\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 1E
\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 1E
\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 1E
\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 1E
\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 1E
\Disease\Disorder of skeletal AND/OR smooth 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 1E
\Disease\Disorder of skeletal AND/OR smooth 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 1E
\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 1E
\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 1E
\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 1E
\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 1E

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3318728018 Autosomal dominant limb girdle muscular dystrophy type 1E (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3318729014 Autosomal dominant limb girdle muscular dystrophy type 1E en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant limb girdle muscular dystrophy type 1E	Is a	Autosomal dominant muscular dystrophy with limb girdle distribution	true	Inferred relationship	Existential restriction modifier
Autosomal dominant limb girdle muscular dystrophy type 1E	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	2
Autosomal dominant limb girdle muscular dystrophy type 1E	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	3
Autosomal dominant limb girdle muscular dystrophy type 1E	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Autosomal dominant limb girdle muscular dystrophy type 1E	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Autosomal dominant limb girdle muscular dystrophy type 1E	Associated morphology	Dystrophy	false	Inferred relationship	Existential restriction modifier	3
Autosomal dominant limb girdle muscular dystrophy type 1E	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant limb girdle muscular dystrophy type 1E	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant limb girdle muscular dystrophy type 1E	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant limb girdle muscular dystrophy type 1E	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3318728018	Autosomal dominant limb girdle muscular dystrophy type 1E (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3318729014	Autosomal dominant limb girdle muscular dystrophy type 1E	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module