111508004: spierdystrofie van Emery-Dreifuss (aandoening)

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\Disorder of muscle\...

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

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

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Degenerative disorder of musculoskeletal system\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\Muscular dystrophy\Emery-Dreifuss muscular dystrophy
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Emery-Dreifuss muscular dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Emery-Dreifuss muscular dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Muscular dystrophy\Emery-Dreifuss muscular dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscular dystrophy\Emery-Dreifuss muscular dystrophy
\Disease\Disorder of muscle\Degenerative disorder of muscle\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\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	Some
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Emery-Dreifuss muscular dystrophy	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	2
Emery-Dreifuss muscular dystrophy	Occurrence	Congenital	false	Inferred relationship	Some
Emery-Dreifuss muscular dystrophy	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Emery-Dreifuss muscular dystrophy	Occurrence	Congenital	false	Inferred relationship	Some	3
Emery-Dreifuss muscular dystrophy	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	3
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	3
Emery-Dreifuss muscular dystrophy	Occurrence	Congenital	false	Inferred relationship	Some	2
Emery-Dreifuss muscular dystrophy	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	2
Emery-Dreifuss muscular dystrophy	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Emery-Dreifuss muscular dystrophy	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Emery-Dreifuss muscular dystrophy	Occurrence	Congenital	false	Inferred relationship	Some	1
Emery-Dreifuss muscular dystrophy	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2
Emery-Dreifuss muscular dystrophy	Is a	Genetic disease	false	Inferred relationship	Some
Emery-Dreifuss muscular dystrophy	Is a	Muscular dystrophy	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)	Is a	True	Emery-Dreifuss muscular dystrophy	Inferred relationship	Some
Autosomal recessive Emery-Dreifuss muscular dystrophy	Is a	True	Emery-Dreifuss muscular dystrophy	Inferred relationship	Some
X-linked Emery-Dreifuss muscular dystrophy	Is a	True	Emery-Dreifuss muscular dystrophy	Inferred relationship	Some

Reference Sets

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

Dutch pathology simple reference set (foundation metadata concept)

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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
12271000146117	spierdystrofie van Emery-Dreifuss	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
97271000146116	benigne scapuloperoneale spierdystrofie met vroege contracturen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
949561000146119	spierdystrofie van Emery-Dreifuss (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)