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


Status: current, Primitive. 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 Active Case insensitive SNOMED CT core
4212726019 Genetic susceptibility to malignant hyperthermia due to RYR1 (ryanodine receptor 1) gene mutation positive en Synonym Active Initial character case insensitive SNOMED CT core
4212727011 Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation positive (finding) en Fully specified name Active Case insensitive 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 positive Is a Malignant hyperthermia genetic susceptibility true Inferred relationship Some
Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation positive Has interpretation Positive true Inferred relationship Some 1
Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation positive Interprets Genetic test true Inferred relationship Some 1
Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation positive Is a Positive genetic finding true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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