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1141749000: Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation (finding)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4535200019 Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation positive en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4535201015 Malignant hyperthermia predisposition due to CACNA1S (calcium voltage-gated channel subunit alpha1 S) gene mutation positive en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5181118019 Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5181119010 Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation (finding) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4535199017 Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation positive (finding) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4535200019 Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation positive en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4535201015 Malignant hyperthermia predisposition due to CACNA1S (calcium voltage-gated channel subunit alpha1 S) gene mutation positive en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5181118019 Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5181119010 Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation (finding) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
6287361000241112 susceptibilité génétique à l'hyperthermie maligne, due à une mutation du gène de la sous-unité alpha-1S du canal calcique voltage-dépendant fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6287371000241116 prédisposition génétique à l'hyperthermie maligne, due à une mutation du gène CACNA1S (calcium voltage-gated channel subunit alpha1 S) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6287361000241112 susceptibilité génétique à l'hyperthermie maligne, due à une mutation du gène de la sous-unité alpha-1S du canal calcique voltage-dépendant fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6287371000241116 prédisposition génétique à l'hyperthermie maligne, due à une mutation du gène CACNA1S (calcium voltage-gated channel subunit alpha1 S) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation Is a Genetic susceptibility to malignant hyperthermia (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation Is a Positive genetic finding true Inferred relationship Existential restriction modifier (core metadata concept)
Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation Has interpretation Positive false Inferred relationship Existential restriction modifier (core metadata concept) 1
Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation Interprets Genetic test (procedure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation Interprets Genetic test (procedure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation Has interpretation Detected (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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