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1141749000: genetische gevoeligheid voor maligne hyperthermie door mutatie in gen voor calciumkanaal alfa-1S subunit (bevinding)


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
12882821000146118 genetische gevoeligheid voor maligne hyperthermie door mutatie in gen voor alpha-1S-subeenheid van spanningsafhankelijk calciumkanaal nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12901691000146115 genetische gevoeligheid voor maligne hyperthermie door mutatie in gen voor calciumkanaal alfa-1S subunit (bevinding) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12901701000146115 genetische gevoeligheid voor maligne hyperthermie door CACNA1S-genmutatie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12901711000146118 genetische gevoeligheid voor maligne hyperthermie door mutatie in gen voor 'calcium voltage-gated channel subunit alpha1 S' nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12901721000146111 genetische gevoeligheid voor maligne hyperthermie door mutatie in gen voor calciumkanaal alfa-1S subunit nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)


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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