1156836006: X-linked 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\...

\Hereditary progressive muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy

\Emery-Dreifuss muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy

\Muscle finding\Disorder of muscle\...

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

\Hereditary progressive muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy

\Emery-Dreifuss muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy

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

\Hereditary progressive muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy

\Emery-Dreifuss muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy

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

\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy

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

\Hereditary progressive muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy

\Emery-Dreifuss muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy

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

\Hereditary progressive muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy

\Emery-Dreifuss muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy

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

\Hereditary progressive muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy

\Emery-Dreifuss muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy

\Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy
\Disease\Genetic disease\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked Emery-Dreifuss muscular dystrophy
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy
\Disease\Disorder of muscle\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy
\Disease\Disorder of muscle\Degenerative disorder of muscle\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy
\Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy
\Disease\Disorder of muscle\Disorder of skeletal muscle\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy
\Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy
\Disease\Developmental disorder\Muscular dystrophy\Emery-Dreifuss muscular dystrophy\X-linked Emery-Dreifuss muscular dystrophy

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

Descriptions:

Id Description Lang Type Status Case? Module

4576296015 X-linked Emery-Dreifuss muscular dystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4576297012 X-linked Emery-Dreifuss muscular dystrophy (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

5065441000052117 X-bunden Emery-Dreifuss muskeldystrofi sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4576296015	X-linked Emery-Dreifuss muscular dystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4576297012	X-linked Emery-Dreifuss muscular dystrophy (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5065441000052117	X-bunden Emery-Dreifuss muskeldystrofi	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)