75602-3  Fetal 1p36 deletion risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal 1p36 deletion risk [Interpretation] based on Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA QualitativeFetal 1p36 deletion 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 1p36 deletion risk  Imp  Pt  WBC.DNA+Plas.cfDNA  Ord  Dosage of chromosome specific cf DNA
  Long Common Name:  Fetal 1p36 deletion risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative
  Short Name:  Fet 1p36 del risk WBC.DNA+cfDNA Ql
  Display Name:  1p36 del 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 1p36 deletion risk
  1p36 deletion syndrome is caused by the deletion of several genes in the short arm of chromosome 1 and is associated with severe cognitive delay, seizure disorder, weak muscle tone, swallowing difficulty, and distinctive facial features. The general population risk of 1p36 deletion is about 1 in 5,000 - 10,000 live births, and does not change with maternal age. Fetal risk of having 1p36 deletion syndrome can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. [GHR: 1p36-deletion-syndrome]
 
 

BASIC ATTRIBUTES
  Class/Type: MOLPATH.DEL/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   LP185774-9  Fetal 1p36 deletion 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
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  1p36 deletion risk:Imp:Pt:WBC.DNA+​Plas.cfDNA:Ord:Dosage of chromosome specific cf DNA1p36 deletion risk:Imp:Pt:WBC.DNA+​Plas.cfDNA:Ord:Dosage of chromosome specific cf DNARisque délétion 1p36 [Interprétation] Leucocytes ADN+​Plasma avec ADN libre circulant ; Qualitatif ; Dosage d'ADN libre circulant spécifiques aux chromosomes

RELATED NAMES
  1p36 del risk Molecular pathology Qual
  Chromosom MOLPATH Qualitative
  Chromosomes MOLPATH.DELETIONS Random
  Impression Ordinal Screen
  Impression/interpretation of study Pl Spec
  Impressions Plasma WBC.DNA+cfDNA
  Interp Plsm WBCs
  Interpretation Point in time White blood cells
  Leukocytes QL  

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:15 PM
  Long Common Name: Fetal 1p36 deletion risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative
  Shortname: Fet 1p36 del risk WBC.DNA+cfDNA Ql
  Fully Specified Name: Fetal 1p36 deletion risk: Imp: Pt: WBC.DNA+Plas.cfDNA: Ord: Dosage of chromosome specific cf DNA
     
  Component Word Count: 4
  ID: 77290
  Status (Raw): ACTIVE

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