loading...| 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 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/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 |
| 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 |
| 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 |