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1010400009: 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-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4212725015 Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation positive en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4212726019 Genetic susceptibility to malignant hyperthermia due to RYR1 (ryanodine receptor 1) gene mutation positive en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5181116015 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
5181117012 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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation Is a Genetic susceptibility to malignant hyperthermia (finding) true Inferred relationship Some
Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation Has interpretation Positive false Inferred relationship Some 1
Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation Interprets Genetic test (procedure) false Inferred relationship Some 1
Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation Is a Genetic finding detected true Inferred relationship Some
Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation Interprets Genetic test (procedure) true Inferred relationship Some 2
Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation Has interpretation Detected true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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