75570-2  Fetal Monosomy X risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal Monosomy X risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal monosomy X risk: Imp: Pt: WBC.DNA+​Plas.cfDNA: Ord: Dosage of chromosome specific cf DNA  

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

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.
 
 

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.

EXAMPLE ANSWER LIST    (LL3000-8)  
 
Source: Natera
  SEQ#        Answer        Answer ID    
  1       Low risk       LA19542-2  
  2       High risk       LA19541-4  
  3       Risk unchanged       LA21393-6  
  4       Test not performed
http://snomed.info/sct ©: 262008008 Not performed (qualifier value)    
  LA13546-9  

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   LP6819-9  Imp   [Impression/interpretation of study] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185797-0  WBC.DNA+Plas.cfDNA   [Plasma cell-free+WBC DNA] 
Scale   LP7751-3  Ord 
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:印象:时间点:白细胞.DNA+​血浆.cfDNA:序数型:染色体特异性 cfDNA 剂量测定单体型 X 风险:印象:时间点:白细胞.DNA+​血浆.cfDNA:序数型: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:Imp:Pt:WBC.DNA+​Plas.cfDNA:Ord:Dosage of chromosome specific cf DNAMonosomy X risk:Imp:Pt:WBC.DNA+​Plas.cfDNA:Ord:Dosage of chromosome specific cf DNARisque monosomie X [Interprétation] Leucocytes ADN+​Plasma avec ADN libre circulant ; Qualitatif ; 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:Imp:Pt:WBC.DNA+​Plas.cfDNA:Ord:Dosaggio di DNA libero fetale circolante cromosoma specificoMonosomia X, rischio:Imp:Pt:WBC.DNA+​Plas.cfDNA:Ord: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:Impresión/​interpretación del estudio:Punto temporal:ADN en plasma libre de células y leucocitos:Ord:Dosificación de ADN ccf de cromosoma específicoRiesgo de monosomía X:Impresión/​interpretación del estudio:Punto temporal:ADN en plasma libre de células y leucocitos:Ord:Dosificación de ADN ccf de cromosoma específico

RELATED NAMES
  Chromosom MOLPATH Qualitative
  Chromosomes Ms X risk Random
  Impression Ordinal Screen
  Impression/interpretation of study Pl Spec
  Impressions Plasma Turner syndrome
  Interp Plsm WBC.DNA+cfDNA
  Interpretation Point in time WBCs
  Leukocytes QL White blood cells
  Molecular pathology Qual  

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 [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative
  Shortname: Fet Ms X risk WBC.DNA+cfDNA Ql
  Fully Specified Name: Fetal monosomy X risk: Imp: Pt: WBC.DNA+Plas.cfDNA: Ord: Dosage of chromosome specific cf DNA
     
  Component Word Count: 4
  ID: 77258
  Status (Raw): ACTIVE

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