111508004: Emery-Dreifuss muscular dystrophy (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Emery-Dreifuss muscular dystrophy

\Muscle finding (finding)\Disorder of muscle\...

\Degenerative disorder of muscle (disorder)\Muscular dystrophy\Emery-Dreifuss muscular dystrophy

\Disorder of skeletal muscle\Muscular dystrophy\Emery-Dreifuss muscular dystrophy

\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\...

\Degenerative disorder of musculoskeletal system (disorder)\Muscular dystrophy\Emery-Dreifuss muscular dystrophy

\Chronic disease of musculoskeletal system\Muscular dystrophy\Emery-Dreifuss muscular dystrophy

\Disorder of skeletal muscle\Muscular dystrophy\Emery-Dreifuss muscular dystrophy

\Disease\Genetic disease\Muscular dystrophy\Emery-Dreifuss muscular dystrophy
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system (disorder)\Muscular dystrophy\Emery-Dreifuss muscular dystrophy
\Disease\Degenerative disorder\Degenerative disorder of muscle (disorder)\Muscular dystrophy\Emery-Dreifuss muscular dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Degenerative disorder of musculoskeletal system (disorder)\Muscular dystrophy\Emery-Dreifuss muscular dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Muscular dystrophy\Emery-Dreifuss muscular dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Muscular dystrophy\Emery-Dreifuss muscular dystrophy
\Disease\Disorder of muscle\Degenerative disorder of muscle (disorder)\Muscular dystrophy\Emery-Dreifuss muscular dystrophy
\Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Emery-Dreifuss muscular dystrophy
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Emery-Dreifuss muscular dystrophy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Emery-Dreifuss muscular dystrophy
\Disease\Developmental disorder (disorder)\Muscular dystrophy\Emery-Dreifuss muscular dystrophy

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
Emery-Dreifuss muscular dystrophy	Is a	X-linked muscular dystrophy not predominantly limb girdle	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Emery-Dreifuss muscular dystrophy	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Emery-Dreifuss muscular dystrophy	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Emery-Dreifuss muscular dystrophy	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Emery-Dreifuss muscular dystrophy	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Emery-Dreifuss muscular dystrophy	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Emery-Dreifuss muscular dystrophy	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Emery-Dreifuss muscular dystrophy	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Emery-Dreifuss muscular dystrophy	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Emery-Dreifuss muscular dystrophy	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Emery-Dreifuss muscular dystrophy	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Emery-Dreifuss muscular dystrophy	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Emery-Dreifuss muscular dystrophy	Is a	Genetic disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Emery-Dreifuss muscular dystrophy	Is a	Muscular dystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)	Is a	True	Emery-Dreifuss muscular dystrophy	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive Emery-Dreifuss muscular dystrophy	Is a	True	Emery-Dreifuss muscular dystrophy	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked Emery-Dreifuss muscular dystrophy	Is a	True	Emery-Dreifuss muscular dystrophy	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
178750014	Emery-Dreifuss muscular dystrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
363299012	EMD - Emery-Dreifuss muscular dystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
363300016	Benign scapuloperoneal muscular dystrophy with early contractures	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
632293017	Emery-Dreifuss muscular dystrophy (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
178750014	Emery-Dreifuss muscular dystrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
363299012	EMD - Emery-Dreifuss muscular dystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
363300016	Benign scapuloperoneal muscular dystrophy with early contractures	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
363300016	Benign scapuloperoneal muscular dystrophy with early contractures	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
632293017	Emery-Dreifuss muscular dystrophy (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3420071001000111	Emery-Dreifuss Muskeldystrophie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
941571000172116	DMED - dystrophie musculaire d'Emery-Dreifuss	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1006491000172112	dystrophie musculaire d'Emery-Dreifuss	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
941571000172116	DMED - dystrophie musculaire d'Emery-Dreifuss	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1006491000172112	dystrophie musculaire d'Emery-Dreifuss	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3420071001000111	Emery-Dreifuss Muskeldystrophie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module