Value Set Information
Value Set Code PHVS_DownSyndrome_NCHS Download Value Set Download Value SetDownload Value SetDownload Value Set
Value Set Name Down Syndrome (NCHS)
Value Set OID 1.3.6.1.4.1.19376.1.7.3.1.1.13.8.61
Value Set Description To reflect Down Syndrome as an anomaly of the newborn Subscribe
Version History
  • 6 Value Set Concepts found
  • 1

         Concept Code Sequence Concept Name Preferred Concept Name Code System Value Set  
70156005 1 Anomaly of chromosome pair 21 Anomaly of chromosome pair 21 SNOMED-CT Down Syndrome (NCHS) Details
41040004 2 Complete trisomy 21 syndrome Complete trisomy 21 syndrome SNOMED-CT Down Syndrome (NCHS) Details
205615000 3 Trisomy 21- meiotic nondisjunction Trisomy 21- meiotic nondisjunction SNOMED-CT Down Syndrome (NCHS) Details
205616004 4 Trisomy 21- mitotic nondisjunction mosaicism Trisomy 21- mitotic nondisjunction mosaicism SNOMED-CT Down Syndrome (NCHS) Details
254264002 5 Partial trisomy 21 in Down's syndrome Partial trisomy 21 in Down's syndrome SNOMED-CT Down Syndrome (NCHS) Details
371045000 6 Translocation Down syndrome Translocation Down syndrome SNOMED-CT Down Syndrome (NCHS) Details