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

\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\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 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\Adult onset autosomal recessive muscular dystrophy with normal dystrophin
\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\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. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

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

629157016 Adult onset autosomal recessive muscular dystrophy with normal dystrophin (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
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Is a	Autosomal recessive muscular dystrophy with limb girdle distribution	true	Inferred relationship	Existential restriction modifier
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Is a	Congenital hereditary muscular dystrophy	false	Inferred relationship	Existential restriction modifier
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	1
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Occurrence	Adulthood	false	Inferred relationship	Existential restriction modifier
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	2
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier	1
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	2
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	1
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	2
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	2
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	1
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	2
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	1
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	2
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	1
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	1
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	2
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	3
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier	2
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Pathological process	Pathological developmental process	false	Inferred relationship	Existential restriction modifier	2
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Occurrence	Adulthood	true	Inferred relationship	Existential restriction modifier	1
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	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
359664013	Adult onset autosomal recessive muscular dystrophy with normal dystrophin	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
629157016	Adult onset autosomal recessive muscular dystrophy with normal dystrophin (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module