75552-0  Fetal Trisomy 13 risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal Trisomy 13 risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal trisomy 13 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 trisomy 13 risk  Imp  Pt  WBC.DNA+Plas.cfDNA  Ord  Dosage of chromosome specific cf DNA
  Long Common Name:  Fetal Trisomy 13 risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative
  Short Name:  Fet Ts 13 risk WBC.DNA+cfDNA Ql
  Display Name:  Trisomy 13 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 trisomy 13 risk
  Trisomy 13 risk refers to the fetus's risk of having trisomy 13. The risk can be estimated based on maternal age as well as prenatal genetic testing of fetal DNA. Trisomy 13, also called Patau syndrome, is caused by the presence of three copies of chromosome 13 in each cell rather than two. Patau syndrome is associated with severe cognitive delay, various forms of congenital heart disease, brain or spinal cord abnormalities, hypotonia, cleft lip and/or palate, and poorly developed eyes. Many liveborn infants with Patau syndrome die within the first weeks of life, and less than 10% survive longer than one year. The general population risk of Trisomy 13 is about 1 in 16,000 live births, but the risk increases with increasing maternal age. [GHR: trisomy-13]
 
 

BASIC ATTRIBUTES
  Class/Type: MOLPATH.TRISOMY/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   LP99499-3  Fetal trisomy 13 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 
Fragments for synonyms   LP36157-3  Trisomy 

LANGUAGE VARIANTS
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Trisomy 13 risk:Imp:Pt:WBC.DNA+​Plas.cfDNA:Ord:Dosage of chromosome specific cf DNATrisomy 13 risk:Imp:Pt:WBC.DNA+​Plas.cfDNA:Ord:Dosage of chromosome specific cf DNARisque Trisomie 13 [Interprétation] Leucocytes ADN+​Plasma avec ADN libre circulant ; Qualitatif ; Dosage d'ADN libre circulant spécifiques aux chromosomes

RELATED NAMES
  Chromosom MOLPATH.TRISOMY Random
  Chromosomes Ordinal Screen
  Impression Patau syndrome Spec
  Impression/interpretation of study Pl Ts
  Impressions Plasma Ts 13 risk
  Interp Plsm WBC.DNA+cfDNA
  Interpretation Point in time WBCs
  Leukocytes QL White blood cells
  Molecular pathology Qual  
  MOLPATH Qualitative  

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:20 PM
  Long Common Name: Fetal Trisomy 13 risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative
  Shortname: Fet Ts 13 risk WBC.DNA+cfDNA Ql
  Fully Specified Name: Fetal trisomy 13 risk: Imp: Pt: WBC.DNA+Plas.cfDNA: Ord: Dosage of chromosome specific cf DNA
     
  Component Word Count: 4
  ID: 77240
  Status (Raw): ACTIVE

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  Code System: http://snomed.info/sct
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