1177122009: Myotonic dystrophy (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

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

\Myotonic disorder\Myotonic dystrophy (disorder)

\Muscular dystrophy (disorder)\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)

\Muscle finding\Disorder of muscle\...

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

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

\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\...

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

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

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

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

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

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

Descriptions:

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare genetic multi-system disorder characterised by a wide range of muscle-related manifestations (muscle weakness, myotonia, early onset cataracts before age 50) and systemic manifestations (cerebral, endocrine, cardiac, gastrointestinal tract, uterus, skin and immunologic involvement) that vary depending on the age of onset. The very wide clinical spectrum ranges from lethal presentations in infancy to mild, late-onset disease.	Is a	True	Myotonic dystrophy (disorder)	Inferred relationship	Some
A rare myotonic dystrophy of juvenile or adult-onset characterized by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.	Is a	True	Myotonic dystrophy (disorder)	Inferred relationship	Some
Cardiomyopathy in myotonic dystrophy	Associated with	True	Myotonic dystrophy (disorder)	Inferred relationship	Some	1
Congenital myotonic dystrophy	Is a	False	Myotonic dystrophy (disorder)	Inferred relationship	Some
Dilated cardiomyopathy due to myotonic dystrophy (disorder)	Due to	True	Myotonic dystrophy (disorder)	Inferred relationship	Some	2

This concept is not in any reference sets

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