Genetic Testing

Preferred Label : Genetic Testing;

NCIt synonyms : Genetic Examination;

NCIt related terms : Genetic Test; genetic analysis;

NCIt definition : The process of isolating and testing the DNA of an embryo or a person to detect the presence of genetic alterations or defects that may predispose to the future development of a disease or disorder.;

Alternative definition : NCI-GLOSS: Analyzing DNA to look for a genetic alteration that may indicate an increased risk for developing a specific disease or disorder.; MRCT-Ctr: A medical test that could identify a health risk to them or their biological family members by looking at their genes (DNA). (https://mrctcenter.org/glossaryterm/genetic-testing/);

Codes from synonyms : CDR0000046128; CDR0000386202;

Details

Origin ID

C15709;

UMLS CUI

C0679560;

Currated CISMeF NLP mapping
- genetic testing [MedlinePlus Topic]
- genetic testing [MeSH Descriptor]
- genetic testing [MeSH concept]
False automatic mappings
- Genetic test (procedure) [SNOMED CT concept]
Semantic type(s)
- Laboratory Procedure [UMLS semantic type]
UMLS correspondences (same concept)
- Genetic test (procedure) [SNOMED CT concept]
- genetic testing [MedlinePlus Topic]
- genetic testing [MeSH concept]
- genetic testing [MeSH Descriptor]
concept_is_in_subset
- CDISC MRCT Center Clinical Research Glossary [NCIt concept]
- CTRP Intervention Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Clinical Data Interchange Standards Consortium Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Newborn Screening Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

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