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412731001: Positive genetic finding (finding)


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

Descriptions:

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


20 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 Existential restriction modifier
Positive genetic finding Interprets Laboratory test false Inferred relationship Existential restriction modifier
Positive genetic finding Finding method Procedure false Inferred relationship Existential restriction modifier
Positive genetic finding Is a Genetic finding true Inferred relationship Existential restriction modifier
Positive genetic finding Has interpretation Positive false Inferred relationship Existential restriction modifier 1
Positive genetic finding Interprets Genetic test false Inferred relationship Existential restriction modifier 1
Positive genetic finding Has interpretation Positive true Inferred relationship Existential restriction modifier 1
Positive genetic finding Interprets Genetic test true Inferred relationship Existential restriction modifier 1

Inbound Relationships Type Active Source Characteristic Refinability Group
BRCA1 gene mutation positive Is a False Positive genetic finding Inferred relationship Existential restriction modifier
BRCA2 gene mutation positive Is a False Positive genetic finding Inferred relationship Existential restriction modifier
Breast cancer genetic marker of susceptibility positive Is a True Positive genetic finding Inferred relationship Existential restriction modifier
Mitochondrial 1555 A to G mutation positive Is a True Positive genetic finding Inferred relationship Existential restriction modifier
Heterozygous protocadherin 19 gene mutation positive Is a True Positive genetic finding Inferred relationship Existential restriction modifier
Hereditary nonpolyposis colon cancer gene mutation positive Is a False Positive genetic finding Inferred relationship Existential restriction modifier
Positive for tumor protein p53 Is a True Positive genetic finding Inferred relationship Existential restriction modifier
Hereditary non-polyposis colon cancer gene mutation positive Is a True Positive genetic finding Inferred relationship Existential restriction modifier
Human leukocyte antigen B*57:01 positive Is a True Positive genetic finding Inferred relationship Existential restriction modifier
Human leukocyte antigen A*31:01 positive Is a True Positive genetic finding Inferred relationship Existential restriction modifier
Human leukocyte antigen B*15:02 positive Is a True Positive genetic finding Inferred relationship Existential restriction modifier
Human leukocyte antigen B*58:01 positive Is a True Positive genetic finding Inferred relationship Existential restriction modifier
Human leukocyte antigen DQB1*02:02 positive Is a True Positive genetic finding Inferred relationship Existential restriction modifier
Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation positive Is a True Positive genetic finding Inferred relationship Existential restriction modifier
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 Existential restriction modifier
Human epidermal growth factor receptor 2 gene positive Is a True Positive genetic finding Inferred relationship Existential restriction modifier
Mitochondrial 1555 A to G mutation positive (finding) Is a False Positive genetic finding Inferred relationship Existential restriction modifier
Heterozygous protocadherin 19 gene mutation positive Is a False Positive genetic finding Inferred relationship Existential restriction modifier
Fibrillin 1 gene mutation positive (finding) Is a True Positive genetic finding Inferred relationship Existential restriction modifier
Apolipoprotein E gene mutation positive Is a True Positive genetic finding Inferred relationship Existential restriction modifier
Apolipoprotein B gene mutation positive Is a True Positive genetic finding Inferred relationship Existential restriction modifier
Proprotein convertase subtilisin/kexin type 9 gene mutation positive Is a True Positive genetic finding Inferred relationship Existential restriction modifier
Low density lipoprotein receptor gene mutation positive Is a True Positive genetic finding Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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