LP187147-6
Fetal chromosome 13 trisomy
Active
Description
Trisomy 13 risk refers to the fetus's risk of having trisomy 13. The risk can be estimated based on maternal age as well as prenatal genetic testing of fetal DNA. Trisomy 13, also called Patau syndrome, is caused by the presence of three copies of chromosome 13 in each cell rather than two. Patau syndrome is associated with severe cognitive delay, various forms of congenital heart disease, brain or spinal cord abnormalities, hypotonia, cleft lip and/or palate, and poorly developed eyes. Many liveborn infants with Patau syndrome die within the first weeks of life, and less than 10% survive longer than one year. The general population risk of Trisomy 13 is about 1 in 16,000 live births, but the risk increases with increasing maternal age. [MedlinePlus Condition: trisomy-13] Source: Regenstrief LOINC, GHR: Trisomy 13
Basic Part Properties
- Part Display Name
- Fetal chromosome 13 trisomy
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2014-12-08
- Construct for LOINC Short Name
- Chr 13 Ts
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP187147-6
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
zh-CN | Chinese (China) | 胎儿染色体 13 三体性 Synonyms: 胎儿13号染色体三体型; |
es-ES | Spanish (Spain) | Trisomía cromosoma 13 |
it-IT | Italian (Italy) | Cromosoma 13, trisomia Synonyms: Trisomia del cromosoma 13 |
tr-TR | Turkish (Turkey) | Kromozom 13 trizomi |
nl-NL | Dutch (Netherlands) | foetale trisomie 13 Synonyms: chromosoom 13 trisomie bij foetus |
pl-PL | Polish (Poland) | Trisomia chromosomu 13 u płodu |
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright