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\Myotonia congenita\Congenital myotonia, autosomal dominant form

\Muscle finding (finding)\Disorder of muscle\Disorder of skeletal muscle\Myotonic disorder\Myotonia congenita\Congenital myotonia, autosomal dominant form

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

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

\Disorder of skeletal muscle\Myotonic disorder\Myotonia congenita\Congenital myotonia, autosomal dominant form

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Congenital myotonia, autosomal dominant form
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Congenital myotonia, autosomal dominant form
\Disease\Disorder of foetus and/or newborn\Congenital disease\Myotonia congenita\Congenital myotonia, autosomal dominant form
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\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\Myotonia congenita\Congenital myotonia, autosomal dominant form
\Disease\Disorder of muscle\Disorder of skeletal muscle\Myotonic disorder\Myotonia congenita\Congenital myotonia, autosomal dominant form
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myotonic disorder\Myotonia congenita\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	Existential restriction modifier (core metadata concept)
Congenital myotonia, autosomal dominant form	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital myotonia, autosomal dominant form	Is a	Myotonic disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital myotonia, autosomal dominant form	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital myotonia, autosomal dominant form	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital myotonia, autosomal dominant form	Is a	Congenital disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital myotonia, autosomal dominant form	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital myotonia, autosomal dominant form	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital myotonia, autosomal dominant form	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital myotonia, autosomal dominant form	Is a	Myotonia congenita	true	Inferred relationship	Existential restriction modifier (core metadata concept)

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
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
96321017	Congenital myotonia, autosomal dominant form	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
96321017	Congenital myotonia, autosomal dominant form	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
498017013	Congenital myotonia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
498018015	Myotonia congenita - autosomal dominant form	en	Synonym (core metadata concept)	Active	Only initial character 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
498019011	Myotonia congenita	en	Synonym (core metadata concept)	Active	Only initial character 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	Only initial character case insensitive (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
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