240065009: Adult onset autosomal recessive muscular dystrophy with normal dystrophin (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 recessive muscular dystrophy with limb girdle distribution\Adult onset autosomal recessive muscular dystrophy with normal dystrophin

\Muscle finding\Disorder of 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\Adult onset autosomal recessive muscular dystrophy with normal dystrophin

\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\Adult onset autosomal recessive muscular dystrophy with normal dystrophin

\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\Adult onset autosomal recessive muscular dystrophy with normal dystrophin

\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\Adult onset autosomal recessive muscular dystrophy with normal dystrophin

\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\Adult onset autosomal recessive muscular dystrophy with normal dystrophin

\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\Adult onset autosomal recessive muscular dystrophy with normal dystrophin

\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\Adult onset autosomal recessive muscular dystrophy with normal dystrophin
\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\Adult onset autosomal recessive muscular dystrophy with normal dystrophin
\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\Adult onset autosomal recessive muscular dystrophy with normal dystrophin
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive muscular dystrophy with limb girdle distribution\Adult onset autosomal recessive muscular dystrophy with normal dystrophin
\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\Adult onset autosomal recessive muscular dystrophy with normal dystrophin
\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\Adult onset autosomal recessive muscular dystrophy with normal dystrophin
\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\Adult onset autosomal recessive muscular dystrophy with normal dystrophin
\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\Adult onset autosomal recessive muscular dystrophy with normal dystrophin
\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\Adult onset autosomal recessive muscular dystrophy with normal dystrophin
\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\Adult onset autosomal recessive muscular dystrophy with normal dystrophin
\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\Adult onset autosomal recessive muscular dystrophy with normal dystrophin
\Disease\Disorder of 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\Adult onset autosomal recessive muscular dystrophy with normal dystrophin
\Disease\Disorder of 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\Adult onset autosomal recessive muscular dystrophy with normal dystrophin
\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\Adult onset autosomal recessive muscular dystrophy with normal dystrophin
\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\Adult onset autosomal recessive muscular dystrophy with normal dystrophin
\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\Adult onset autosomal recessive muscular dystrophy with normal dystrophin
\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\Adult onset autosomal recessive muscular dystrophy with normal dystrophin

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

359664013 Adult onset autosomal recessive muscular dystrophy with normal dystrophin en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

629157016 Adult onset autosomal recessive muscular dystrophy with normal dystrophin (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3884471000052117 autosomalt recessiv muskeldystrofi med normalt dystrofin med debut i vuxen ålder sv Synonym (core metadata concept) Active Entire term 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
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Is a	Autosomal recessive muscular dystrophy with limb girdle distribution	true	Inferred relationship	Some
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Is a	Congenital hereditary muscular dystrophy	false	Inferred relationship	Some
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Occurrence	Adulthood	false	Inferred relationship	Some
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Associated morphology	kongenital anomali	false	Inferred relationship	Some	2
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Occurrence	Congenital	false	Inferred relationship	Some
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Occurrence	Congenital	false	Inferred relationship	Some	3
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	3
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	3
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Occurrence	Congenital	false	Inferred relationship	Some	2
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	2
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Occurrence	Adulthood	true	Inferred relationship	Some	1
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	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
359664013	Adult onset autosomal recessive muscular dystrophy with normal dystrophin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
629157016	Adult onset autosomal recessive muscular dystrophy with normal dystrophin (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3884471000052117	autosomalt recessiv muskeldystrofi med normalt dystrofin med debut i vuxen ålder	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)