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1010400009: Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation positive (finding)


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

Descriptions:

Id Description Lang Type Status Case? Module
4212725015 Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation positive en Synonym Active Entire term case insensitive SNOMED CT core module
4212726019 Genetic susceptibility to malignant hyperthermia due to RYR1 (ryanodine receptor 1) gene mutation positive en Synonym Active Only initial character case insensitive SNOMED CT core module
4212727011 Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation positive (finding) en Fully specified name Active Entire term case insensitive SNOMED CT core module


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 positive Is a Genetic susceptibility to malignant hyperthermia true Inferred relationship Existential restriction modifier
Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation positive Has interpretation Positive true Inferred relationship Existential restriction modifier 1
Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation positive Interprets Genetic test true Inferred relationship Existential restriction modifier 1
Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation positive Is a Positive genetic finding true Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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