240067001: Autosomal dominant 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 dominant 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 dominant 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 dominant 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 dominant 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 dominant 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 dominant 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 dominant muscular dystrophy with limb girdle distribution

\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
\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
\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
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant 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 dominant 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 dominant 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 dominant 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 dominant 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 dominant 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 dominant 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 dominant 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 dominant 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 dominant 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 dominant 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 dominant 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 dominant muscular dystrophy with limb girdle distribution
\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

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

359666010 Autosomal dominant muscular dystrophy with limb girdle distribution en Synonym Active Entire term case insensitive SNOMED CT core module

629159018 Autosomal dominant 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 dominant muscular dystrophy with limb girdle distribution	Is a	Congenital hereditary muscular dystrophy	false	Inferred relationship	Existential restriction modifier
Autosomal dominant muscular dystrophy with limb girdle distribution	Is a	Muscular dystrophy with predominantly proximal limb girdle distribution	true	Inferred relationship	Existential restriction modifier
Autosomal dominant muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	2
Autosomal dominant muscular dystrophy with limb girdle distribution	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Autosomal dominant muscular dystrophy with limb girdle distribution	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	2
Autosomal dominant muscular dystrophy with limb girdle distribution	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	1
Autosomal dominant muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	1
Autosomal dominant muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	2
Autosomal dominant muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	2
Autosomal dominant muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	1
Autosomal dominant muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	1
Autosomal dominant muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	2
Autosomal dominant muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	2
Autosomal dominant muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	1
Autosomal dominant muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	2
Autosomal dominant muscular dystrophy with limb girdle distribution	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Autosomal dominant muscular dystrophy with limb girdle distribution	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Autosomal dominant muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	3
Autosomal dominant muscular dystrophy with limb girdle distribution	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Autosomal dominant muscular dystrophy with limb girdle distribution	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Existential restriction modifier
Autosomal dominant muscular dystrophy with limb girdle distribution	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant 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 dominant muscular dystrophy with gene located at 5q31	Is a	True	Autosomal dominant muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Autosomal dominant limb girdle muscular dystrophy type 1B	Is a	False	Autosomal dominant muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Autosomal dominant limb girdle muscular dystrophy type 1A	Is a	True	Autosomal dominant muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Autosomal dominant limb girdle muscular dystrophy type 1C	Is a	False	Autosomal dominant muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Autosomal dominant limb girdle muscular dystrophy type 1D	Is a	True	Autosomal dominant muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Autosomal dominant limb girdle muscular dystrophy type 1E	Is a	True	Autosomal dominant muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Autosomal dominant limb girdle muscular dystrophy type 1F	Is a	True	Autosomal dominant muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Autosomal dominant limb girdle muscular dystrophy type 1G	Is a	True	Autosomal dominant muscular dystrophy with limb girdle distribution	Inferred relationship	Existential restriction modifier
Autosomal dominant limb-girdle muscular dystrophy type 1H	Is a	True	Autosomal dominant 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
359666010	Autosomal dominant muscular dystrophy with limb girdle distribution	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
629159018	Autosomal dominant muscular dystrophy with limb girdle distribution (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module