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412731001: Genetic finding detected (finding)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2474289018 Positive genetic finding en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5181138018 Genetic finding detected en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5181139014 Genetic finding detected (finding) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

18 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Genetic finding detected Is a Positive laboratory finding false Inferred relationship Some
Genetic finding detected Interprets Laboratory test false Inferred relationship Some
Genetic finding detected Finding method (attribute) Procedure false Inferred relationship Some
Genetic finding detected Is a Genetic finding true Inferred relationship Some
Genetic finding detected Has interpretation Positive false Inferred relationship Some 1
Genetic finding detected Interprets Genetic test (procedure) false Inferred relationship Some 1
Genetic finding detected Has interpretation Positive false Inferred relationship Some 1
Genetic finding detected Interprets Genetic test (procedure) true Inferred relationship Some 1
Genetic finding detected Has interpretation Detected true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
BRCA1 gene mutation detected (finding) Is a False Genetic finding detected Inferred relationship Some
BRCA2 gene mutation detected (finding) Is a False Genetic finding detected Inferred relationship Some
Breast cancer genetic marker of susceptibility detected Is a True Genetic finding detected Inferred relationship Some
Mitochondrial 1555 A to G mutation detected (finding) Is a True Genetic finding detected Inferred relationship Some
Heterozygous protocadherin 19 gene mutation detected (finding) Is a True Genetic finding detected Inferred relationship Some
Hereditary nonpolyposis colon cancer gene mutation positive Is a False Genetic finding detected Inferred relationship Some
Tumor protein p53 detected Is a True Genetic finding detected Inferred relationship Some
Hereditary non-polyposis colon cancer gene mutation detected (finding) Is a True Genetic finding detected Inferred relationship Some
HLA-B*57:01 detected Is a True Genetic finding detected Inferred relationship Some
Human leukocyte antigen A*31:01 detected (finding) Is a True Genetic finding detected Inferred relationship Some
HLA-B*15:02 detected Is a True Genetic finding detected Inferred relationship Some
HLA-B*58:01 positive Is a True Genetic finding detected Inferred relationship Some
Human leukocyte antigen DQB1*02:02 positive Is a True Genetic finding detected Inferred relationship Some
Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation Is a True Genetic finding detected Inferred relationship Some
Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation Is a True Genetic finding detected Inferred relationship Some
Human leukocyte antigen B5701 detected Is a True Genetic finding detected Inferred relationship Some
Human epidermal growth factor receptor 2 gene amplification detected (finding) Is a True Genetic finding detected Inferred relationship Some
Heterozygous NFKBIA gene mutation detected (finding) Is a True Genetic finding detected Inferred relationship Some
Hereditary alpha-tryptasemia trait detected (finding) Is a True Genetic finding detected Inferred relationship Some

This concept is not in any reference sets

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