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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
2468184010 Positive genetic finding (finding) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
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
6484281000241117 constatation concernant un résultat positif d'un test génétique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6484291000241115 observation concernant un test génétique positif fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6484281000241117 constatation concernant un résultat positif d'un test génétique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6484291000241115 observation concernant un test génétique positif fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

19 descendants. Search Descendants:

Expanded Value Set

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

Reference Sets

Description inactivation indicator reference set

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