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1004155003: onzekere genetische gevoeligheid voor maligne hyperthermie door mutatie in gen voor calciumkanaal alpha-1S subunit (bevinding)


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

Descriptions:

Id Description Lang Type Status Case? Module
4169908014 Uncertain 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
4169909018 Uncertain genetic susceptibility to malignant hyperthermia due to CACNA1S gene mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4169910011 Uncertain 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
12133271000146114 nog onbekende 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)
12133351000146113 onzekere 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)
12357171000146118 onzekere genetische gevoeligheid voor maligne hyperthermie door mutatie in gen voor calciumkanaal alpha-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)
12357181000146116 onzekere genetische gevoeligheid voor maligne hyperthermie door mutatie in gen voor calciumkanaal alpha-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
Uncertain genetic susceptibility to malignant hyperthermia due to CACNA1S gene mutation Is a Genetic finding true Inferred relationship Some
Uncertain genetic susceptibility to malignant hyperthermia due to CACNA1S gene mutation Interprets Genetic test (procedure) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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