1177122009: Myotonic dystrophy (disorder)

SNOMED CT Concept\Clinical finding\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\...

\Myotonic disorder\Myotonic dystrophy

\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\...

\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy

\Disorder of skeletal muscle\Myotonic disorder\Myotonic dystrophy
\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy

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

\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Myotonic dystrophy

\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy

\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy

\Disorder of skeletal muscle\Myotonic disorder\Myotonic dystrophy
\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy

\Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Myotonic dystrophy
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Myotonic dystrophy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Myotonic dystrophy
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Myotonic dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Myotonic dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myotonic disorder\Myotonic dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy
\Disease\Disorder of skeletal AND/OR smooth muscle\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Myotonic disorder\Myotonic dystrophy
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myotonic disorder\Myotonic dystrophy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Myotonic dystrophy
\Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Oct 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

4643487015 Myotonic dystrophy (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

4643488013 DM - dystrophia myotonica en Synonym Active Entire term case sensitive SNOMED CT core module

4643489017 Myotonia dystrophica en Synonym Active Entire term case insensitive SNOMED CT core module

4643490014 Myotonic dystrophy en Synonym Active Entire term case insensitive SNOMED CT core module

4643491013 Dystrophia myotonica en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Myotonic dystrophy	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Myotonic dystrophy	Is a	Hereditary progressive muscular dystrophy	true	Inferred relationship	Existential restriction modifier
Myotonic dystrophy	Is a	Myotonic disorder	true	Inferred relationship	Existential restriction modifier
Myotonic dystrophy	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	2
Myotonic dystrophy	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	1
Myotonic dystrophy	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier	1
Myotonic dystrophy	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Steinert myotonic dystrophy syndrome	Is a	True	Myotonic dystrophy	Inferred relationship	Existential restriction modifier
Proximal myotonic myopathy	Is a	True	Myotonic dystrophy	Inferred relationship	Existential restriction modifier
Cardiomyopathy in myotonic dystrophy	Associated with	True	Myotonic dystrophy	Inferred relationship	Existential restriction modifier	1
Congenital myotonic dystrophy	Is a	True	Myotonic dystrophy	Inferred relationship	Existential restriction modifier
Dilated cardiomyopathy due to myotonic dystrophy	Due to	True	Myotonic dystrophy	Inferred relationship	Existential restriction modifier	2

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4643487015	Myotonic dystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
4643488013	DM - dystrophia myotonica	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4643489017	Myotonia dystrophica	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4643490014	Myotonic dystrophy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4643491013	Dystrophia myotonica	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module