Version 2.78

Descriptions

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

The genetic counselor's comment regarding risk of a specific disorder or group of disorders is used to convey follow-up recommendations or other information related to the risk result and interpretation. Source: Regenstrief LOINC

Basic Part Properties

Part Display Name
Comment on fetal Monosomy X risk
Part Type
Component (Describes the core component or analyte measured)
Created On
2014-09-26
Construct for LOINC Short Name
Fet Mon X risk comment

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP185988-5

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) 关于胎儿单体型 X 风险的遗传咨询师意见
Synonyms: 关于胎儿单体型 X （X 单染色体症、特纳综合征、Turner 综合征、杜纳综合征、透纳氏症、透纳氏症候群、乌尔里希-特纳综合征、Ullrich-Turner 综合征、性腺发育不全、生殖腺发育不全、性腺发育障碍、性腺发育不良、性腺生殖力不全、性腺发育障碍症）风险（危险性、风险性、危险）的遗传咨询师（遗传病辅导员、基因咨询师、遗传谘询师、基因谘询师）意见（评论、解释、注释、注解、点评）;Genetic counselor comment on Turner syndrome risk;Genetic cou
es-ES Spanish (Spain) Comentario de consejo genético en riesgo de Monosomía X
it-IT Italian (Italy) Commento su rischio Monosomia X
tr-TR Turkish (Turkey) Monozomi X riski genetik danışman önerisi
pl-PL Polish (Poland) Komentarz dotyczący ryzyka monosomii X u płodu