57938005: Congenital myotonia, autosomal dominant form (disorder)

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

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myotonic disorder\A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).\Congenital myotonia, autosomal dominant form

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Myotonic disorder\A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).\Congenital myotonia, autosomal dominant form

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

\Hereditary disorder of musculoskeletal system\Congenital myotonia, autosomal dominant form

\Disorder of skeletal muscle\Myotonic disorder\A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).\Congenital myotonia, autosomal dominant form

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital myotonia, autosomal dominant form
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\Congenital myotonia, autosomal dominant form
\Disease\Fetal and/or neonatal disorder\Congenital disease\A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).\Congenital myotonia, autosomal dominant form
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital myotonia, autosomal dominant form
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Congenital myotonia, autosomal dominant form
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Myotonic disorder\A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).\Congenital myotonia, autosomal dominant form
\Disease\Disorder of muscle\Disorder of skeletal muscle\Myotonic disorder\A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).\Congenital myotonia, autosomal dominant form
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myotonic disorder\A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).\Congenital myotonia, autosomal dominant form

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
Congenital myotonia, autosomal dominant form	Is a	Myopathy	false	Inferred relationship	Some
Congenital myotonia, autosomal dominant form	Is a	Autosomal dominant hereditary disorder (disorder)	true	Inferred relationship	Some
Congenital myotonia, autosomal dominant form	Is a	Myotonic disorder	false	Inferred relationship	Some
Congenital myotonia, autosomal dominant form	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Congenital myotonia, autosomal dominant form	Finding site	Skeletal muscle structure	false	Inferred relationship	Some
Congenital myotonia, autosomal dominant form	Is a	Congenital disease	false	Inferred relationship	Some
Congenital myotonia, autosomal dominant form	Occurrence	Congenital	false	Inferred relationship	Some
Congenital myotonia, autosomal dominant form	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital myotonia, autosomal dominant form	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Congenital myotonia, autosomal dominant form	Is a	A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).	true	Inferred relationship	Some

Inbound Relationships

Type

Active

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Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
96321017	Congenital myotonia, autosomal dominant form	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
498018015	Myotonia congenita - autosomal dominant form	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
498020017	Thomsen's disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
498021018	Thomsen myotonia congenita	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
796615016	Congenital myotonia, autosomal dominant form (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
125891000077111	myotonie congénitale, forme autosomique dominante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
227071000172115	myotonie congénitale autosomique dominante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module