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412731001: Positive genetic finding (finding)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2004. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2468184010 Positive genetic finding (finding) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2474289018 Positive genetic finding en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core


14 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Positive genetic finding (finding) est un(e) (attribut) Positive laboratory finding false Inferred relationship Some
Positive genetic finding (finding) interprète (attribut) analyse de laboratoire false Inferred relationship Some
Positive genetic finding (finding) méthode de constatation (attribut) Procedure false Inferred relationship Some
Positive genetic finding (finding) est un(e) (attribut) Genetic finding true Inferred relationship Some
Positive genetic finding (finding) a pour interprétation (attribut) Positive false Inferred relationship Some 1
Positive genetic finding (finding) interprète (attribut) Genetic test (procedure) false Inferred relationship Some 1
Positive genetic finding (finding) a pour interprétation (attribut) Positive true Inferred relationship Some 1
Positive genetic finding (finding) interprète (attribut) Genetic test (procedure) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Human leukocyte antigen DQB1*02:02 positive est un(e) (attribut) True Positive genetic finding (finding) Inferred relationship Some
Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation positive est un(e) (attribut) True Positive genetic finding (finding) Inferred relationship Some
Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation positive (finding) est un(e) (attribut) True Positive genetic finding (finding) Inferred relationship Some
BRCA1 gene mutation positive (finding) est un(e) (attribut) False Positive genetic finding (finding) Inferred relationship Some
BRCA2 gene mutation positive (finding) est un(e) (attribut) False Positive genetic finding (finding) Inferred relationship Some
Breast cancer genetic marker of susceptibility positive (finding) est un(e) (attribut) True Positive genetic finding (finding) Inferred relationship Some
Mitochondrial 1555 A to G mutation positive est un(e) (attribut) True Positive genetic finding (finding) Inferred relationship Some
Heterozygous protocadherin 19 gene mutation positive (finding) est un(e) (attribut) True Positive genetic finding (finding) Inferred relationship Some
HNPCC gene mutation positive est un(e) (attribut) False Positive genetic finding (finding) Inferred relationship Some
Hereditary nonpolyposis colon cancer gene mutation positive (finding) est un(e) (attribut) False Positive genetic finding (finding) Inferred relationship Some
Positive for tumor protein p53 (finding) est un(e) (attribut) True Positive genetic finding (finding) Inferred relationship Some
Hereditary non-polyposis colon cancer gene mutation positive (finding) est un(e) (attribut) True Positive genetic finding (finding) Inferred relationship Some
HLA-B*57:01 positive est un(e) (attribut) True Positive genetic finding (finding) Inferred relationship Some
Human leukocyte antigen A*31:01 positive (finding) est un(e) (attribut) True Positive genetic finding (finding) Inferred relationship Some
Human leukocyte antigen B*15:02 positive (finding) est un(e) (attribut) True Positive genetic finding (finding) Inferred relationship Some
Human leukocyte antigen B*58:01 positive (finding) est un(e) (attribut) True Positive genetic finding (finding) Inferred relationship Some

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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