Medical Subject Headings

Last uploaded: July 6, 2018
Preferred Name

Genetic Testing

Synonyms

Screening, Genetic

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

Screening, Genetic

Predictive Testing, Genetic

Testing, Genetic

Testing, Genetic Predictive

Testing, Genetic Predisposition

Genetic Predisposition Testing

Genetic Predictive Testing

Predisposition Testing, Genetic

Genetic Screenings

Genetic Testing, Predictive

Screenings, Genetic

Predictive Genetic Testing

Genetic Screening

Testing, Predictive Genetic

AN

human and animal; for phenotype or genotype

AQL

CL EC ES HI IS LJ MT SN ST TD UT VE

cui

C0813145

C0600224

C0679560

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

D020022

D011296

D006580

D025202

D030661

D030561

D030541

D019836

HN

2010 (1978)

Inverse of AQ

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

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

http://purl.bioontology.org/ontology/MESH/Q000656

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

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

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

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

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

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

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

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

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

Inverse of RO

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

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

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

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

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

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

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

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

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

Inverse of SIB

http://purl.bioontology.org/ontology/MESH/D017720

http://purl.bioontology.org/ontology/MESH/D015183

http://purl.bioontology.org/ontology/MESH/D018014

http://purl.bioontology.org/ontology/MESH/D018983

http://purl.bioontology.org/ontology/MESH/D009780

http://purl.bioontology.org/ontology/MESH/D019976

http://purl.bioontology.org/ontology/MESH/D056726

http://purl.bioontology.org/ontology/MESH/D060005

http://purl.bioontology.org/ontology/MESH/D062308

http://purl.bioontology.org/ontology/MESH/D016415

http://purl.bioontology.org/ontology/MESH/D003584

http://purl.bioontology.org/ontology/MESH/D064790

http://purl.bioontology.org/ontology/MESH/D021141

http://purl.bioontology.org/ontology/MESH/D008828

http://purl.bioontology.org/ontology/MESH/D005818

http://purl.bioontology.org/ontology/MESH/D059208

http://purl.bioontology.org/ontology/MESH/D003001

http://purl.bioontology.org/ontology/MESH/D021261

http://purl.bioontology.org/ontology/MESH/D013048

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

http://purl.bioontology.org/ontology/MESH/D008952

http://purl.bioontology.org/ontology/MESH/D009691

http://purl.bioontology.org/ontology/MESH/D006652

http://purl.bioontology.org/ontology/MESH/D002874

http://purl.bioontology.org/ontology/MESH/D000067108

http://purl.bioontology.org/ontology/MESH/D047369

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

http://purl.bioontology.org/ontology/MESH/D018390

http://purl.bioontology.org/ontology/MESH/D012732

http://purl.bioontology.org/ontology/MESH/D008657

http://purl.bioontology.org/ontology/MESH/D000071117

http://purl.bioontology.org/ontology/MESH/D020451

http://purl.bioontology.org/ontology/MESH/D000073623

http://purl.bioontology.org/ontology/MESH/D015997

http://purl.bioontology.org/ontology/MESH/D005817

http://purl.bioontology.org/ontology/MESH/D059386

http://purl.bioontology.org/ontology/MESH/D058889

http://purl.bioontology.org/ontology/MESH/D011258

http://purl.bioontology.org/ontology/MESH/D009693

http://purl.bioontology.org/ontology/MESH/D010375

http://purl.bioontology.org/ontology/MESH/D055101

http://purl.bioontology.org/ontology/MESH/D006403

http://purl.bioontology.org/ontology/MESH/D003433

http://purl.bioontology.org/ontology/MESH/D000067470

http://purl.bioontology.org/ontology/MESH/D017421

http://purl.bioontology.org/ontology/MESH/D008403

http://purl.bioontology.org/ontology/MESH/D007159

http://purl.bioontology.org/ontology/MESH/D020869

http://purl.bioontology.org/ontology/MESH/D011869

http://purl.bioontology.org/ontology/MESH/D020287

http://purl.bioontology.org/ontology/MESH/D009152

http://purl.bioontology.org/ontology/MESH/D023282

http://purl.bioontology.org/ontology/MESH/D019963

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

http://purl.bioontology.org/ontology/MESH/D016172

Machine permutation

2010; see GENETIC SCREENING 1978-2009

MDA

19770422

MMR

20170717

MN

N02.421.308.430

E01.370.225.562

E05.393.435

E05.200.562

N02.421.726.233.221

notation

D005820

prefLabel

Genetic Testing

TERMUI

T734596

T750706

T017594

T734597

T750705

T017595

TH

NLM (2010)

NLM (1999)

tui

T060

T059

subClassOf

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

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

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

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

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http://purl.obolibrary.org/obo/NCIT_C15709 Precision Medicine Ontology LOOM
http://purl.bioontology.org/ontology/CSP/4000-0190 Computer Retrieval of Information on Scientific Projects Thesaurus CUI
http://purl.bioontology.org/ontology/CSP/1254-8491 Computer Retrieval of Information on Scientific Projects Thesaurus CUI
http://purl.bioontology.org/ontology/CPT/88275 Current Procedural Terminology CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Genetic_Testing Sage Bionetworks Synapse Ontology LOOM
http://purl.bioontology.org/ontology/CSP/4009-0042 Computer Retrieval of Information on Scientific Projects Thesaurus CUI
http://purl.bioontology.org/ontology/CSP/4009-0042 Computer Retrieval of Information on Scientific Projects Thesaurus CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0679560 MedlinePlus Health Topics CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0679560 MedlinePlus Health Topics LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#E05.393.435 Robert Hoehndorf Version of MeSH LOOM
http://purl.bioontology.org/ontology/ICPC2P/A38003 International Classification of Primary Care - 2 PLUS CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C15709 Informed Consent Ontology LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C15709 National Cancer Institute Thesaurus LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C15709 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/MSHFRE/D005820 Thesaurus Biomedical Francais/Anglais [French translation of MeSH] CUI
http://purl.bioontology.org/ontology/MSHFRE/D005820 Thesaurus Biomedical Francais/Anglais [French translation of MeSH] CUI
http://purl.bioontology.org/ontology/MSHFRE/D005820 Thesaurus Biomedical Francais/Anglais [French translation of MeSH] CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D005820 Robert Hoehndorf Version of MeSH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#N02.421.308.430 Robert Hoehndorf Version of MeSH LOOM
http://purl.bioontology.org/ontology/LNC/MTHU008533 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/CSP/4001-0050 Computer Retrieval of Information on Scientific Projects Thesaurus CUI
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Genetic_Testing Psychology Ontology LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Genetic_Testing Disorders cluster LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#E01.370.225.562 Robert Hoehndorf Version of MeSH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#N02.421.143.827.233.221 Robert Hoehndorf Version of MeSH LOOM
http://purl.bioontology.org/ontology/LNC/LP19405-7 Logical Observation Identifier Names and Codes CUI
http://localhost/plosthes.2017-1#420 PLOS Thesaurus LOOM
http://purl.bioontology.org/ontology/SCTSPA/405824009 SNOMED Terminos Clinicos CUI
http://www.projecthalo.com/aura#Genetic-Testing KB_Bio_101 LOOM
http://scdontology.h3abionet.org/ontology/SCDO_0000449 Sickle Cell Disease Ontology LOOM
http://purl.bioontology.org/ontology/CSP/1262-4020 Computer Retrieval of Information on Scientific Projects Thesaurus CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#E05.200.562 Robert Hoehndorf Version of MeSH LOOM
http://purl.bioontology.org/ontology/CPT/88274 Current Procedural Terminology CUI
http://purl.bioontology.org/ontology/SNOMEDCT/405824009 SNOMED CT CUI