240067001: autosomaal dominante 'limb-girdle' spierdystrofie (aandoening)

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

\Muscle finding\Disorder of muscle\...

\Hereditary myopathy (disorder)\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution

\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 myopathy (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\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 muscle\Hereditary myopathy (disorder)\Hereditary progressive muscular dystrophy\Muscular dystrophy with predominantly proximal limb girdle distribution\Autosomal dominant muscular dystrophy with limb girdle distribution
\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
\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
\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 (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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	Some
Autosomal dominant muscular dystrophy with limb girdle distribution	Is a	Muscular dystrophy with predominantly proximal limb girdle distribution	true	Inferred relationship	Some
Autosomal dominant muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Autosomal dominant muscular dystrophy with limb girdle distribution	Occurrence	Congenital	false	Inferred relationship	Some
Autosomal dominant muscular dystrophy with limb girdle distribution	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	2
Autosomal dominant muscular dystrophy with limb girdle distribution	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Autosomal dominant muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Autosomal dominant muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Autosomal dominant muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Autosomal dominant muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Autosomal dominant muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Autosomal dominant muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Autosomal dominant muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Autosomal dominant muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Autosomal dominant muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Autosomal dominant muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Autosomal dominant muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Autosomal dominant muscular dystrophy with limb girdle distribution	Occurrence	Congenital	false	Inferred relationship	Some	3
Autosomal dominant muscular dystrophy with limb girdle distribution	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	3
Autosomal dominant muscular dystrophy with limb girdle distribution	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	3
Autosomal dominant muscular dystrophy with limb girdle distribution	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant muscular dystrophy with limb girdle distribution	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Autosomal dominant muscular dystrophy with limb girdle distribution	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal dominant muscular dystrophy with limb girdle distribution	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2
Autosomal dominant muscular dystrophy with limb girdle distribution	Is a	Hereditary myopathy (disorder)	false	Inferred relationship	Some

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	Some
autosomaal dominante 'limb-girdle'-spierdystrofie type 1B	Is a	False	Autosomal dominant muscular dystrophy with limb girdle distribution	Inferred relationship	Some
Autosomal dominant limb girdle muscular dystrophy type 1A (disorder)	Is a	True	Autosomal dominant muscular dystrophy with limb girdle distribution	Inferred relationship	Some
autosomaal dominante 'limb-girdle'-spierdystrofie type 1C	Is a	False	Autosomal dominant muscular dystrophy with limb girdle distribution	Inferred relationship	Some
Autosomal dominant limb girdle muscular dystrophy type 1D (disorder)	Is a	True	Autosomal dominant muscular dystrophy with limb girdle distribution	Inferred relationship	Some
Autosomal dominant limb girdle muscular dystrophy type 1E (disorder)	Is a	True	Autosomal dominant muscular dystrophy with limb girdle distribution	Inferred relationship	Some
Autosomal dominant limb girdle muscular dystrophy type 1F (disorder)	Is a	True	Autosomal dominant muscular dystrophy with limb girdle distribution	Inferred relationship	Some
Autosomal dominant limb girdle muscular dystrophy type 1G (disorder)	Is a	True	Autosomal dominant muscular dystrophy with limb girdle distribution	Inferred relationship	Some
Autosomal dominant limb-girdle muscular dystrophy type 1H	Is a	True	Autosomal dominant muscular dystrophy with limb girdle distribution	Inferred relationship	Some
Calpain-3-related limb girdle muscular dystrophy D4	Is a	True	Autosomal dominant muscular dystrophy with limb girdle distribution	Inferred relationship	Some
ziekte van Bethlem	Is a	False	Autosomal dominant muscular dystrophy with limb girdle distribution	Inferred relationship	Some

Reference Sets

Dutch rare neuromuscular disorders simple reference set (foundation metadata concept)

Dutch pathology simple reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
359666010	Autosomal dominant muscular dystrophy with limb girdle distribution	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
629159018	Autosomal dominant muscular dystrophy with limb girdle distribution (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1262651000146115	autosomaal dominante 'limb-girdle' spierdystrofie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1262661000146117	autosomaal dominante 'limb-girdle' spierdystrofie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1263221000146118	AD-LGMD	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)