240068006: Autosomal dominant muscular dystrophy with gene located at 5q31 (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 muscular dystrophy with gene located at 5q31

\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 muscular dystrophy with gene located at 5q31

\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

\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

\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

\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

\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

\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
\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
\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
\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
\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
\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
\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
\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
\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
\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
\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
\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
\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
\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
\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
\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
\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

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

Descriptions:

Id Description Lang Type Status Case? Module

359667018 Autosomal dominant muscular dystrophy with gene located at 5q31 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

629160011 Autosomal dominant muscular dystrophy with gene located at 5q31 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant muscular dystrophy with gene located at 5q31	Is a	Autosomal dominant muscular dystrophy with limb girdle distribution	true	Inferred relationship	Some
Autosomal dominant muscular dystrophy with gene located at 5q31	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Autosomal dominant muscular dystrophy with gene located at 5q31	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Autosomal dominant muscular dystrophy with gene located at 5q31	Occurrence	Congenital	false	Inferred relationship	Some
Autosomal dominant muscular dystrophy with gene located at 5q31	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Autosomal dominant muscular dystrophy with gene located at 5q31	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Autosomal dominant muscular dystrophy with gene located at 5q31	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Autosomal dominant muscular dystrophy with gene located at 5q31	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Autosomal dominant muscular dystrophy with gene located at 5q31	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Autosomal dominant muscular dystrophy with gene located at 5q31	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Autosomal dominant muscular dystrophy with gene located at 5q31	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Autosomal dominant muscular dystrophy with gene located at 5q31	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Autosomal dominant muscular dystrophy with gene located at 5q31	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Autosomal dominant muscular dystrophy with gene located at 5q31	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Autosomal dominant muscular dystrophy with gene located at 5q31	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Autosomal dominant muscular dystrophy with gene located at 5q31	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Autosomal dominant muscular dystrophy with gene located at 5q31	Occurrence	Congenital	false	Inferred relationship	Some	3
Autosomal dominant muscular dystrophy with gene located at 5q31	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	3
Autosomal dominant muscular dystrophy with gene located at 5q31	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	3
Autosomal dominant muscular dystrophy with gene located at 5q31	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal dominant muscular dystrophy with gene located at 5q31	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Late onset proximal muscular dystrophy with dysarthria	Is a	True	Autosomal dominant muscular dystrophy with gene located at 5q31	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
359667018	Autosomal dominant muscular dystrophy with gene located at 5q31	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
629160011	Autosomal dominant muscular dystrophy with gene located at 5q31 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core