111508004: Emery-Dreifuss muscular dystrophy (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Muscle finding\Disorder of skeletal AND/OR smooth 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 skeletal AND/OR smooth muscle\Degenerative disorder of muscle\Muscular dystrophy\Emery-Dreifuss muscular dystrophy
\Disease\Disorder of skeletal AND/OR smooth 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. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

178750014 Emery-Dreifuss muscular dystrophy en Synonym Active Only initial character case insensitive SNOMED CT core module

363299012 EMD - Emery-Dreifuss muscular dystrophy en Synonym Active Entire term case sensitive SNOMED CT core module

363300016 Benign scapuloperoneal muscular dystrophy with early contractures en Synonym Active Entire term case insensitive SNOMED CT core module

632293017 Emery-Dreifuss muscular dystrophy (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

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
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	2
Emery-Dreifuss muscular dystrophy	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	2
Emery-Dreifuss muscular dystrophy	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Emery-Dreifuss muscular dystrophy	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier	1
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	1
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	1
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	2
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	1
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	2
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	1
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	2
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	1
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	2
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	1
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	2
Emery-Dreifuss muscular dystrophy	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Emery-Dreifuss muscular dystrophy	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Emery-Dreifuss muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	3
Emery-Dreifuss muscular dystrophy	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Emery-Dreifuss muscular dystrophy	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier	2
Emery-Dreifuss muscular dystrophy	Pathological process	Pathological developmental process	false	Inferred relationship	Existential restriction modifier	2
Emery-Dreifuss muscular dystrophy	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Emery-Dreifuss muscular dystrophy	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	1
Emery-Dreifuss muscular dystrophy	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	2
Emery-Dreifuss muscular dystrophy	Is a	Genetic disease	false	Inferred relationship	Existential restriction modifier
Emery-Dreifuss muscular dystrophy	Is a	Muscular dystrophy	true	Inferred relationship	Existential restriction modifier

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

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	Active	Only initial character case insensitive	SNOMED CT core module
363299012	EMD - Emery-Dreifuss muscular dystrophy	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
363300016	Benign scapuloperoneal muscular dystrophy with early contractures	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
632293017	Emery-Dreifuss muscular dystrophy (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module