715317001: Proximal myotonic myopathy (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)\Proximal myotonic myopathy (disorder)

\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Proximal myotonic myopathy (disorder)

\Muscle finding\Disorder of muscle\...

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

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

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

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

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

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

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3302203011 Proximal myotonic myopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3302204017 Proximal myotonic myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3302205016 Myotonic dystrophy type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3302206015 Ricker disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3302207012 Ricker syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5400819016 A rare myotonic dystrophy of juvenile or adult-onset characterized by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5400820010 A rare myotonic dystrophy of juvenile or adult-onset characterised by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Proximal myotonic myopathy (disorder)	Is a	Autosomal dominant hereditary disorder	false	Inferred relationship	Some
Proximal myotonic myopathy (disorder)	Is a	Myotonic disorder	false	Inferred relationship	Some
Proximal myotonic myopathy (disorder)	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Proximal myotonic myopathy (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Proximal myotonic myopathy (disorder)	Is a	Myotonic dystrophy (disorder)	true	Inferred relationship	Some
Proximal myotonic myopathy (disorder)	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2
Proximal myotonic myopathy (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Proximal myotonic myopathy (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3302203011	Proximal myotonic myopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302204017	Proximal myotonic myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302205016	Myotonic dystrophy type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302206015	Ricker disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302207012	Ricker syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400819016	A rare myotonic dystrophy of juvenile or adult-onset characterized by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400820010	A rare myotonic dystrophy of juvenile or adult-onset characterised by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core