1010712009: autosomaal dominante 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\...

\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)

\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)

\Muscle finding\Disorder of muscle\...

\Hereditary myopathy (disorder)\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)

\Degenerative disorder of muscle\Muscular dystrophy\...

\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)

\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)

\Disorder of skeletal muscle\Muscular dystrophy\...

\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)

\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)

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

\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)

\Degenerative disorder of musculoskeletal system\Muscular dystrophy\...

\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)

\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)

\Chronic disease of musculoskeletal system\Muscular dystrophy\...

\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)

\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)

\Disorder of skeletal muscle\Muscular dystrophy\...

\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)

\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)

\Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
\Disease\Genetic disease\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary myopathy (disorder)\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
\Disease\Disorder of muscle\Hereditary myopathy (disorder)\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
\Disease\Disorder of muscle\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
\Disease\Disorder of muscle\Degenerative disorder of muscle\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
\Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
\Disease\Developmental disorder\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)	Is a	Emery-Dreifuss muscular dystrophy	true	Inferred relationship	Some
Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2
Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)	Is a	Hereditary progressive muscular dystrophy	true	Inferred relationship	Some
Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some

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
4213648012	Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4213649016	EDMD2 - autosomal dominant Emery-Dreifuss muscular dystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4213650016	Autosomal dominant Emery-Dreifuss muscular dystrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
12047141000146110	autosomaal dominante 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)
12047151000146113	autosomaal dominante 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)
12249421000146112	autosomaal dominante Emery-Dreifuss-spierdystrofie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)