Version 2.78

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

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;13号染色体三体性;染色体 13 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