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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 (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
4212727011 Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation positive (finding) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4832831000052117 genetisk känslighet för malign hypertermi orsakad av förekomst av ryanodinreceptor 1- genmutation sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


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 (finding) 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 (procedure) true Inferred relationship Some 1
Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation positive Is a Positive genetic finding (finding) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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