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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


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 Some
Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation Is a Genetic finding detected true Inferred relationship Some
Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation Has interpretation Positive false Inferred relationship Some 1
Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation Interprets Genetic test (procedure) false Inferred relationship Some 1
Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation Interprets Genetic test (procedure) true Inferred relationship Some 2
Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation Has interpretation Detected true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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