240054004: Autosomal recessive muscular dystrophy with limb girdle distribution (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 recessive muscular dystrophy with limb girdle distribution

\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 recessive muscular dystrophy with limb girdle distribution

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

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

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

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

\Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with 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\Autosomal recessive muscular dystrophy with limb girdle distribution
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive muscular dystrophy with 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\Autosomal recessive muscular dystrophy with limb girdle distribution
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with 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\Autosomal recessive muscular dystrophy with 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\Autosomal recessive muscular dystrophy with 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\Autosomal recessive muscular dystrophy with 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\Autosomal recessive muscular dystrophy with 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\Autosomal recessive muscular dystrophy with limb girdle distribution
\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 recessive muscular dystrophy with limb girdle distribution
\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 recessive muscular dystrophy with 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\Autosomal recessive muscular dystrophy with 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\Autosomal recessive muscular dystrophy with limb girdle distribution
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution
\Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal recessive muscular dystrophy with limb girdle distribution

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

359650013 Autosomal recessive muscular dystrophy with limb girdle distribution en Synonym Active Entire term case insensitive SNOMED CT core module

629144012 Autosomal recessive muscular dystrophy with limb girdle distribution (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive muscular dystrophy with limb girdle distribution	Is a	Muscular dystrophy with predominantly proximal limb girdle distribution	true	Inferred relationship	Existential restriction modifier
Autosomal recessive muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	1
Autosomal recessive muscular dystrophy with limb girdle distribution	Associated morphology	Dystrophy	false	Inferred relationship	Existential restriction modifier	1
Autosomal recessive muscular dystrophy with limb girdle distribution	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive muscular dystrophy with limb girdle distribution	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Autosomal recessive muscular dystrophy with limb girdle distribution	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Existential restriction modifier
Autosomal recessive muscular dystrophy with limb girdle distribution	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive muscular dystrophy with limb girdle distribution	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Autosomal recessive muscular dystrophy with gene located at 15q	Is a	False	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Congenital muscular dystrophy	Is a	False	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Hutterite type of muscular dystrophy	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Severe childhood autosomal recessive muscular dystrophy	Is a	False	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Autosomal recessive limb girdle muscular dystrophy type 2D	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Autosomal recessive limb girdle muscular dystrophy type 2A	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Autosomal recessive limb girdle muscular dystrophy type 2C	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Autosomal recessive limb girdle muscular dystrophy type 2F	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Autosomal dominant limb girdle muscular dystrophy type 1B	Is a	False	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Autosomal recessive limb girdle muscular dystrophy type 2B	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Autosomal recessive limb girdle muscular dystrophy type 2I	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Autosomal recessive limb girdle muscular dystrophy type 2E	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Autosomal recessive limb girdle muscular dystrophy type 2G	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Autosomal recessive limb girdle muscular dystrophy type 2K	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Epidermolysis bullosa simplex with muscular dystrophy	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Autosomal recessive limb girdle muscular dystrophy type 2J	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Autosomal recessive limb girdle muscular dystrophy type 2O	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Autosomal recessive limb girdle muscular dystrophy type 2Y	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Autosomal recessive limb girdle muscular dystrophy type 2P	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Autosomal recessive limb girdle muscular dystrophy type 2Q	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Autosomal recessive limb girdle muscular dystrophy type 2L	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Autosomal recessive limb girdle muscular dystrophy type 2N	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Autosomal recessive limb girdle muscular dystrophy type 2M	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Autosomal recessive limb girdle muscular dystrophy type 2S	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Autosomal recessive limb girdle muscular dystrophy type 2T	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Autosomal recessive limb girdle muscular dystrophy type 2R	Is a	False	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Autosomal recessive limb girdle muscular dystrophy type 2U	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Reunion-Indiana Amish type muscular dystrophy	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Protein O-glucosyltransferase 1-related limb girdle muscular dystrophy R21	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Blood vessel epicardial substance related limb girdle muscular dystrophy	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
LIM zinc finger domain containing 2-related limb girdle muscular dystrophy	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency	Is a	True	Autosomal recessive muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
359650013	Autosomal recessive muscular dystrophy with limb girdle distribution	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
629144012	Autosomal recessive muscular dystrophy with limb girdle distribution (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module