715788001: Myotonia fluctuans (disorder)

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

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myotonic disorder\Potassium aggravated myotonia (disorder)\Myotonia fluctuans (disorder)

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Myotonic disorder\Potassium aggravated myotonia (disorder)\Myotonia fluctuans (disorder)

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

\Hereditary disorder of musculoskeletal system\Potassium aggravated myotonia (disorder)\Myotonia fluctuans (disorder)

\Disorder of skeletal muscle\Myotonic disorder\Potassium aggravated myotonia (disorder)\Myotonia fluctuans (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Potassium aggravated myotonia (disorder)\Myotonia fluctuans (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Potassium aggravated myotonia (disorder)\Myotonia fluctuans (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Potassium aggravated myotonia (disorder)\Myotonia fluctuans (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Potassium aggravated myotonia (disorder)\Myotonia fluctuans (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myotonic disorder\Potassium aggravated myotonia (disorder)\Myotonia fluctuans (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Myotonic disorder\Potassium aggravated myotonia (disorder)\Myotonia fluctuans (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myotonic disorder\Potassium aggravated myotonia (disorder)\Myotonia fluctuans (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3303707019 Myotonia fluctuans (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3303710014 Myotonia fluctuans en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3303711013 Exercise induced delayed onset myotonia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3303712018 Fluctuating myotonia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3303713011 A form of potassium-aggravated myotonia which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion. Fluctuating myotonia develops during childhood or adolescence and involves the extraocular, bulbar and limb muscles. Myotonia fluctuans is a sodium muscle channelopathy due to missense mutations of the SCN4A gene encoding the alpha subunit of the skeletal muscle voltage-gated sodium channel Nav1.4. Transmission is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

911081000172119 myotonie fluctuante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

879961000172112 door lichaamsbeweging geïnduceerde myotonie met uitgestelde aanvang nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

992811000172112 myotonia fluctuans nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Myotonia fluctuans (disorder)	Is a	Potassium aggravated myotonia (disorder)	true	Inferred relationship	Some
Myotonia fluctuans (disorder)	Finding site	Skeletal muscle structure (body structure)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3303707019	Myotonia fluctuans (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3303710014	Myotonia fluctuans	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3303711013	Exercise induced delayed onset myotonia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3303712018	Fluctuating myotonia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3303713011	A form of potassium-aggravated myotonia which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion. Fluctuating myotonia develops during childhood or adolescence and involves the extraocular, bulbar and limb muscles. Myotonia fluctuans is a sodium muscle channelopathy due to missense mutations of the SCN4A gene encoding the alpha subunit of the skeletal muscle voltage-gated sodium channel Nav1.4. Transmission is autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
911081000172119	myotonie fluctuante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
879961000172112	door lichaamsbeweging geïnduceerde myotonie met uitgestelde aanvang	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
992811000172112	myotonia fluctuans	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)