75567-8  Fetal Monosomy X risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNAFetal Monosomy X risk [Likelihood] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNAFetal monosomy X risk: Likelihood: Pt: WBC.DNA+​Plas.cfDNA: Qn: Dosage of chromosome specific cf DNA  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Fetal monosomy X risk  Likelihood  Pt  WBC.DNA+Plas.cfDNA  Qn  Dosage of chromosome specific cf DNA
  Long Common Name:  Fetal Monosomy X risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
  Short Name:  Fet Ms X risk WBC.DNA+cfDNA Qn
  Display Name:  Monosomy X risk Dosage of chromosome-specific cfDNA Qn (Plasma cell-free+WBC DNA)

TERM DEFINITION/DESCRIPTION(S)
  This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions. It represents the risk based on a priori risk combined with the Panorama test result.
 
 

PART DEFINITION/DESCRIPTION(S)
  Part: Fetal monosomy X risk
  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 ATTRIBUTES
  Class/Type: MOLPATH/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.66
  Order vs. Obs.: Both
  Status: Active.
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP185775-6  Fetal monosomy X risk 
Property   LP185777-2  Likelihood 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185797-0  WBC.DNA+Plas.cfDNA   [Plasma cell-free+WBC DNA] 
Scale   LP7753-9  Qn 
Method   LP172871-8  Dosage of chromosome specific cf DNA   [Dosage of chromosome-specific cfDNA] 
Fragments for synonyms   LP20948-3  Chromosome 
Fragments for synonyms   LP28586-3  Specific 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Lin Zhang, A LOINC volunteer from China)
 
  单体型 X 风险:似然性:时间点:白细胞.DNA+​血浆.cfDNA:定量型:染色体特异性 cfDNA 剂量测定单体型 X 风险:似然性:时间点:白细胞.DNA+​血浆.cfDNA:定量型:染色体特异性 cfDNA 剂量测定
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Monosomy X risk:Likelihood:Pt:WBC.DNA+​Plas.cfDNA:Qn:Dosage of chromosome specific cf DNAMonosomy X risk:Likelihood:Pt:WBC.DNA+​Plas.cfDNA:Qn:Dosage of chromosome specific cf DNARisque monosomie X [Probabilité] Leucocytes ADN+​Plasma avec ADN libre circulant ; Numérique ; Dosage d'ADN libre circulant spécifiques aux chromosomes
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Monosomia X, rischio:Probabilità:Pt:WBC.DNA+​Plas.cfDNA:Qn:Dosaggio di DNA libero fetale circolante cromosoma specificoMonosomia X, rischio:Probabilità:Pt:WBC.DNA+​Plas.cfDNA:Qn:Dosaggio di DNA libero fetale circolante cromosoma specifico
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Riesgo de monosomía X:Probabilidad:Punto temporal:ADN en plasma libre de células y leucocitos:Qn:Dosificación de ADN ccf de cromosoma específicoRiesgo de monosomía X:Probabilidad:Punto temporal:ADN en plasma libre de células y leucocitos:Qn:Dosificación de ADN ccf de cromosoma específico

RELATED NAMES
  Chromosom Plsm Spec
  Chromosomes Point in time Turner syndrome
  Leukocytes QNT WBC.DNA+cfDNA
  Molecular pathology Quan WBCs
  MOLPATH Quant White blood cells
  Ms X risk Quantitative  
  Pl Random  
  Plasma Risk  

EXAMPLE UNITS
  Unit  Source Type
  {risk}  EXAMPLE UCUM UNITS 

UNITS (INTERNAL DETAILS)
  Source Type:  EXAMPLE UCUM UNITS 
  Unit:  {risk} 

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:18 PM
  Long Common Name: Fetal Monosomy X risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
  Shortname: Fet Ms X risk WBC.DNA+cfDNA Qn
  Fully Specified Name: Fetal monosomy X risk: Likelihood: Pt: WBC.DNA+Plas.cfDNA: Qn: Dosage of chromosome specific cf DNA
     
  Component Word Count: 4
  ID: 77255
  Status (Raw): ACTIVE