77956009: myotone dystrofie type 1 (aandoening)

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

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

\Myotonic disorder\Myotonic dystrophy (disorder)\Steinert myotonic dystrophy syndrome

\Muscular dystrophy\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Steinert myotonic dystrophy syndrome

\Muscle finding\Disorder of muscle\...

\Hereditary myopathy (disorder)\Hereditary progressive muscular dystrophy\Myotonic dystrophy (disorder)\Steinert myotonic dystrophy syndrome

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

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

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

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

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

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

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

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

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

Descriptions:

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	Some
Steinert myotonic dystrophy syndrome	Is a	Congenital anomaly of skeletal muscle	false	Inferred relationship	Some
Steinert myotonic dystrophy syndrome	Is a	Myotonic disorder	false	Inferred relationship	Some
Steinert myotonic dystrophy syndrome	Finding site	Brain structure	false	Inferred relationship	Some	2
Steinert myotonic dystrophy syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Steinert myotonic dystrophy syndrome	Associated morphology	Dystrophy	false	Inferred relationship	Some	1
Steinert myotonic dystrophy syndrome	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Steinert myotonic dystrophy syndrome	Is a	Congenital anomaly of skeletal muscle	false	Inferred relationship	Some
Steinert myotonic dystrophy syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Steinert myotonic dystrophy syndrome	Is a	Muscular dystrophy	false	Inferred relationship	Some
Steinert myotonic dystrophy syndrome	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Steinert myotonic dystrophy syndrome	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Steinert myotonic dystrophy syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
Steinert myotonic dystrophy syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
Steinert myotonic dystrophy syndrome	Occurrence	Congenital	false	Inferred relationship	Some	1
Steinert myotonic dystrophy syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Steinert myotonic dystrophy syndrome	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2
Steinert myotonic dystrophy syndrome	Is a	Hereditary progressive muscular dystrophy	false	Inferred relationship	Some
Steinert myotonic dystrophy syndrome	Is a	Autosomal dominant hereditary disorder	false	Inferred relationship	Some
Steinert myotonic dystrophy syndrome	Is a	Myotonic dystrophy (disorder)	true	Inferred relationship	Some
Steinert myotonic dystrophy syndrome	Is a	congenitale myotonie (aandoening)	false	Inferred relationship	Some

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

Reference Sets

Dutch rare neuromuscular disorders simple reference set (foundation metadata concept)

Dutch pathology simple reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
129376015	Steinert myotonic dystrophy syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
129377012	Steinert syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
818843014	Steinert myotonic dystrophy syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4643494017	Myotonic dystrophy type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4643495016	Steinert disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13741000146111	myotone dystrofie type 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13771000146118	ziekte van Steinert	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
942601000146111	myotone dystrofie type 1 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1651031000146118	dystrophia myotonica type 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1651041000146114	DM1	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1651051000146112	MD1	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7076001000146110	myotone dystrofie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7590851000146112	Dit is een erfelijke spierziekte waarbij de spieren langzaam zwakker en dunner (dystrofie) worden en na inspannen niet goed ontspannen (myotonie). Uiteindelijk worden ook de organen aangetast, met als gevolg onder meer maag-darmklachten, hartklachten en concentratieproblemen.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)