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1142134000: Uncertain genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 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
4536714010 Uncertain genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation (finding) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4536715011 Uncertain genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4536716012 Uncertain malignant hyperthermia predisposition due to RyR1 gene mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
7704601000241117 sensibilité génétique incertaine à l'hyperthermie maligne, due à une mutation du gène codant pour le récepteur de la ryanodine de type 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
7704611000241115 sensibilité génétique incertaine à l'hyperthermie maligne, due à une mutation du gène RyR1 (ryanodine receptor 1) 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
Uncertain genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation (finding) Is a Genetic finding true Inferred relationship Some
Uncertain genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation (finding) 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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