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 (disorder)\Congenital myotonia, autosomal dominant form

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

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

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

\Disorder of skeletal muscle\Myotonic disorder\Myotonia congenita (disorder)\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\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\Hereditary disorder of musculoskeletal system\Congenital myotonia, autosomal dominant form
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myotonic disorder\Myotonia congenita (disorder)\Congenital myotonia, autosomal dominant form
\Disease\Disorder of muscle\Disorder of skeletal muscle\Myotonic disorder\Myotonia congenita (disorder)\Congenital myotonia, autosomal dominant form
\Disease\Congenital disease (disorder)\Myotonia congenita (disorder)\Congenital myotonia, autosomal dominant form
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myotonic disorder\Myotonia congenita (disorder)\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:

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

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	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 (disorder)	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	Myotonia congenita (disorder)	true	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets