Medical Subject Headings

Last uploaded: January 31, 2024
Preferred Name

Genetic Testing

Synonyms

Genetic Screenings

Genetic Testing, Predictive

Definitions

Searching a population or individuals for persons possessing any of a set of certain gene mutations, genotypes, or karyotypes that: (1) are already associated with disease or predispose to disease; (2) may lead to disease in their descendants; or (3) produce other variations not known to be associated with disease. Genetic screening may be directed toward identifying phenotypic expression of genetic traits. It includes prenatal genetic screening.

ID

http://purl.bioontology.org/ontology/MESH/D005820

altLabel

Genetic Screenings

Testing, Genetic Predisposition

Screenings, Genetic

Predictive Genetic Testing

Screening, Genetic

Predisposition Testing, Genetic

Testing, Genetic Predictive

Genetic Predisposition Testing

Genetic Screening

Predictive Testing, Genetic

Testing, Genetic

Genetic Predictive Testing

Testing, Predictive Genetic

Genetic Testing, Predictive

AN

human and animal; for phenotype or genotype

AQL

CL EC ES HI IS LJ MT SN ST TD VE

cui

C0679560

C0600224

C0813145

DC

1

definition

Searching a population or individuals for persons possessing any of a set of certain gene mutations, genotypes, or karyotypes that: (1) are already associated with disease or predispose to disease; (2) may lead to disease in their descendants; or (3) produce other variations not known to be associated with disease. Genetic screening may be directed toward identifying phenotypic expression of genetic traits. It includes prenatal genetic screening.

Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.

DX

19780101

FX

D025202

D030661

D020022

D030541

D019836

D030561

D006580

D011296

HN

2010 (1978)

Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000331

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000379

http://purl.bioontology.org/ontology/MESH/Q000706

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000941

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000592

http://purl.bioontology.org/ontology/MESH/Q000295

http://purl.bioontology.org/ontology/MESH/Q000639

Inverse of RO

http://purl.bioontology.org/ontology/MESH/D030561

http://purl.bioontology.org/ontology/MESH/D020022

http://purl.bioontology.org/ontology/MESH/D030661

http://purl.bioontology.org/ontology/MESH/D011296

http://purl.bioontology.org/ontology/MESH/D006580

http://purl.bioontology.org/ontology/MESH/D020732

http://purl.bioontology.org/ontology/MESH/D030541

http://purl.bioontology.org/ontology/MESH/D019836

http://purl.bioontology.org/ontology/MESH/D025202

Machine permutation

2010; see GENETIC SCREENING 1978-2009

MDA

19770422

MMR

20170717

MN

E01.370.225.562

N02.421.726.233.221

E05.393.435

N02.421.308.430

E05.200.562

notation

D005820

prefLabel

Genetic Testing

TERMUI

T750705

T750706

T734596

T017595

T734597

T017594

TH

NLM (1999)

NLM (2010)

tui

T059

T060

subClassOf

http://purl.bioontology.org/ontology/MESH/D019411

http://purl.bioontology.org/ontology/MESH/D033142

http://purl.bioontology.org/ontology/MESH/D003954

http://purl.bioontology.org/ontology/MESH/D005821

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http://purl.bioontology.org/ontology/SCTSPA/405824009 SCTSPA CUI
http://purl.bioontology.org/ontology/MSHFRE/D005820 MSHFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D005820 MSHFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D005820 MSHFRE CUI
http://purl.bioontology.org/ontology/CPT/88275 CPT CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0679560 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/CPT/88274 CPT CUI
http://purl.bioontology.org/ontology/CSP/4001-0050 CRISP CUI
http://purl.bioontology.org/ontology/CSP/4009-0042 CRISP CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000739167 PDQ CUI
http://purl.bioontology.org/ontology/CSP/1262-4020 CRISP CUI
http://purl.bioontology.org/ontology/CSP/4000-0190 CRISP CUI
http://purl.bioontology.org/ontology/CSP/1254-8491 CRISP CUI
http://purl.bioontology.org/ontology/SNOMEDCT/405824009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/ICPC2P/A38003 ICPC2P CUI
http://purl.bioontology.org/ontology/HCPCS/Level%202%3A%20S3800-S3870 HCPCS CUI
http://purl.bioontology.org/ontology/LNC/LP19405-7 LOINC CUI
http://purl.bioontology.org/ontology/CSP/4009-0042 CRISP CUI
http://purl.bioontology.org/ontology/LNC/MTHU008533 LOINC CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#N02.421.143.827.233.221 RH-MESH LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Genetic_Testing APADISORDERS LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Genetic_Testing APAONTO LOOM
http://www.projecthalo.com/aura#Genetic-Testing AURA LOOM
http://localhost/plosthes.2017-1#420 PLOSTHES LOOM
http://www.semanticweb.org/administrator/ontologies/2022/0/untitled-ontology-34#OWLClass0194a7b5_daad_40d8_808d_e4498ae35afa WWECA LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0679560 MEDLINEPLUS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#N02.421.308.430 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C15709 NCIT LOOM
http://purl.obolibrary.org/obo/MAXO_0000127 MAXO LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000739167 PDQ LOOM
http://purl.obolibrary.org/obo/MESH_D005820 BERO LOOM
http://purl.obolibrary.org/obo/OMIT_0007016 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#E01.370.225.562 RH-MESH LOOM
https://w3id.org/brainteaser/ontology/schema/GeneticTesting BT-ONTOLOGY LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D005820 RH-MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C15709 PREMEDONTO LOOM
http://purl.obolibrary.org/obo/NCIT_C15709 SCDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#E05.393.435 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#E05.200.562 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Genetic_Testing SYN LOOM
http://purl.bioontology.org/ontology/HCPCS/Level%202%3A%20S3800-S3870 HCPCS LOOM