Version 2.78

Description

Monosomy X risk refers to the fetus's risk of having monosomy X, also known as Turner syndrome. The risk can be estimated based on gestational age as well as prenatal genetic testing of fetal DNA.Monosomy X is caused by the presence of a single normal copy of chromosome X in each cell rather than 2 normal copies of X or one X and one Y chromosome. In many cases, critical portions of the second X chromosome may be missing rather than the entire chromosome. Turner syndrome is associated with ovarian dysfunction, short stature and other characteristic physical features, and up to half of girls with Turner syndrome have congenital heart disease. Turner syndrome is not associated with cognitive delay. The general population risk of monosomy X is about 1 in 2,500 live female births, and does not change with maternal age. [MedlinePlus Condition: turner-syndrome] Source: Regenstrief LOINC, GHR: Turner syndrome

Basic Part Properties

Part Display Name
Fetal monosomy X risk
Part Type
Component (Describes the core component or analyte measured)
Created On
2014-08-15
Construct for LOINC Short Name
Ms X risk

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP185775-6

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) 胎儿单体型 X 风险
Synonyms: 胎儿 X 单染色体症风险（危险性、风险性、危险）;特纳综合征风险;Turner 综合征风险;杜纳综合征风险;透纳氏症风险;透纳氏症候群风险;乌尔里希-特纳综合征风险;Ullrich-Turner 综合征风险;性腺发育不全风险;生殖腺发育不全风险;性腺发育障碍风险;性腺发育不良风险;性腺生殖力不全风险;性腺发育障碍症风险;Turner syndrome risk;Ullrich-Turner syndrome risk;Gonadal dysgenesis risk
es-ES Spanish (Spain) Riesgo de monosomía X
it-IT Italian (Italy) Monosomia X, rischio
Synonyms: Rischio di monosomia X
tr-TR Turkish (Turkey) Monosomy X riski