LP185775-6     Fetal monosomy X risk

DESCRIPTION
  Part: Fetal monosomy X risk
  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. [GHR: turner-syndrome]
 
 

BASIC PART PROPERTIES
  Construct for LOINC short name: Ms X risk
  Type: COMPONENT
  Status: ACTIVE
  Created On: 8/15/2014

LANGUAGE VARIANTS
 
  Chinese (CHINA)  (From: Lin Zhang, A LOINC volunteer from China)   SYNONYMS
  单体型 X 风险     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
 
  Italian (ITALY)  (From: Consiglio Nazionale delle Ricerche)   SYNONYMS
  Monosomia X, rischio     Rischio di monosomia X
 
  Spanish (SPAIN)  (From: the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)    
  Riesgo de monosomía X      
 
  Turkish (TURKEY)  (From: LOINC Turkish Translation Group and the Turkish Ministry of Health)    
  Monosomy X riski      

INTERNAL FIELDS
  Detail Page Created On: 6/20/2019 9:45:35 AM
  Display name: Fetal monosomy X risk
  Preferred Abbreviation: Ms X risk