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\Myopathy\...

\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\Musculoskeletal disorder\...

\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Myotonic dystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Myotonic disorder\Myotonic dystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy
\Disease\Myopathy\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy
\Disease\Myopathy\Disorder of skeletal muscle\Myotonic disorder\Myotonic dystrophy
\Disease\Myopathy\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, Primitive. Date: 31-Oct 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4643487015 Myotonic dystrophy (disorder) en Fully specified name Active Case insensitive SNOMED CT core

4643488013 DM - dystrophia myotonica en Synonym Active Case sensitive SNOMED CT core

4643489017 Myotonia dystrophica en Synonym Active Case insensitive SNOMED CT core

4643490014 Myotonic dystrophy en Synonym Active Case insensitive SNOMED CT core

4643491013 Dystrophia myotonica en Synonym Active Case insensitive SNOMED CT core

Expanded Value Set

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

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

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

REPLACED BY association reference set

Back to Start

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