77956009: Steinert myotonic dystrophy syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Myotonic disorder\Myotonic dystrophy\Steinert myotonic dystrophy syndrome

\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy\Steinert myotonic dystrophy syndrome

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

\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy\Steinert myotonic dystrophy syndrome

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

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

\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Myotonic dystrophy\Steinert myotonic dystrophy syndrome

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

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

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

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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

129376015 Steinert myotonic dystrophy syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

129377012 Steinert syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

818843014 Steinert myotonic dystrophy syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

4643494017 Myotonic dystrophy type 1 en Synonym Active Entire term case insensitive SNOMED CT core module

4643495016 Steinert disease en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Steinert myotonic dystrophy syndrome	Is a	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	false	Inferred relationship	Existential restriction modifier
Steinert myotonic dystrophy syndrome	Is a	Congenital anomaly of skeletal muscle	false	Inferred relationship	Existential restriction modifier
Steinert myotonic dystrophy syndrome	Is a	Myotonic disorder	false	Inferred relationship	Existential restriction modifier
Steinert myotonic dystrophy syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	2
Steinert myotonic dystrophy syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Steinert myotonic dystrophy syndrome	Associated morphology	Dystrophy	false	Inferred relationship	Existential restriction modifier	1
Steinert myotonic dystrophy syndrome	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	1
Steinert myotonic dystrophy syndrome	Is a	Congenital anomaly of skeletal muscle	false	Inferred relationship	Existential restriction modifier
Steinert myotonic dystrophy syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier
Steinert myotonic dystrophy syndrome	Is a	Muscular dystrophy	false	Inferred relationship	Existential restriction modifier
Steinert myotonic dystrophy syndrome	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	1
Steinert myotonic dystrophy syndrome	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier	1
Steinert myotonic dystrophy syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Steinert myotonic dystrophy syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Steinert myotonic dystrophy syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	1
Steinert myotonic dystrophy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Steinert myotonic dystrophy syndrome	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	2
Steinert myotonic dystrophy syndrome	Is a	Hereditary progressive muscular dystrophy	false	Inferred relationship	Existential restriction modifier
Steinert myotonic dystrophy syndrome	Is a	Autosomal dominant hereditary disorder	false	Inferred relationship	Existential restriction modifier
Steinert myotonic dystrophy syndrome	Is a	Myotonic dystrophy	true	Inferred relationship	Existential restriction modifier

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

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
129376015	Steinert myotonic dystrophy syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
129377012	Steinert syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
818843014	Steinert myotonic dystrophy syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
4643494017	Myotonic dystrophy type 1	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4643495016	Steinert disease	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module