715317001: Proximal myotonic myopathy (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Myotonic disorder\Myotonic dystrophy\Proximal myotonic myopathy

\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy\Proximal myotonic myopathy

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

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

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

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

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

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

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

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

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

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

Descriptions:

Id Description Lang Type Status Case? Module

3302203011 Proximal myotonic myopathy (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3302204017 Proximal myotonic myopathy en Synonym Active Entire term case insensitive SNOMED CT core module
3302205016 Myotonic dystrophy type 2 en Synonym Active Entire term case insensitive SNOMED CT core module
3302206015 Ricker disease en Synonym Active Entire term case sensitive SNOMED CT core module
3302207012 Ricker syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3302203011	Proximal myotonic myopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3302204017	Proximal myotonic myopathy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3302205016	Myotonic dystrophy type 2	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3302206015	Ricker disease	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3302207012	Ricker syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module