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412731001: Positive genetic finding (finding)

Status: current, Primitive. 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 Case insensitive SNOMED CT core
2474289018 Positive genetic finding en Synonym Active Case insensitive SNOMED CT core

14 descendants. Search Descendants:

Expanded Value Set

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

Reference Sets

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

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