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715788001: myotonie fluctuante (trouble)


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
748581000241110 myotonie fluctuante (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
911081000172119 myotonie fluctuante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Myotonia fluctuans (disorder) est un(e) (attribut) Potassium aggravated myotonia (disorder) true Inferred relationship Some
Myotonia fluctuans (disorder) localisation d'une constatation (attribut) structure de muscle squelettique true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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