Value Set Information
Value Set Code PHVS_BirthDefectDiagnosis_CDC Download Value Set Download Value SetDownload Value SetDownload Value Set
Value Set Name Birth Defect Diagnosis
Value Set OID 2.16.840.1.113883.13.277
Value Set Description Collection of SNOMED codes of the diagnoses that are considered to be birth defects. The Birth Defect Diagnosis values were created for the CDA Implementation Guide for Ambulatory Healthcare Provider Reporting to Birth Defect Registries. Subscribe
Version History
  • Version 1
    (Current)

        Concept Code Concept Name Preferred Concept Name Code System Value Set  
4135001 11p partial monosomy syndrome 11p partial monosomy syndrome SNOMED-CT Birth Defect Diagnosis Details
49013001 17 alpha-Hydroxyprogesterone aldolase deficiency 17 alpha-Hydroxyprogesterone aldolase deficiency SNOMED-CT Birth Defect Diagnosis Details
4199009 18p partial trisomy syndrome 18p partial trisomy syndrome SNOMED-CT Birth Defect Diagnosis Details
54470008 3 beta-Hydroxysteroid dehydrogenase deficiency 3 beta-Hydroxysteroid dehydrogenase deficiency SNOMED-CT Birth Defect Diagnosis Details
237950009 3-Methylglutaconic aciduria 3-Methylglutaconic aciduria SNOMED-CT Birth Defect Diagnosis Details
237951008 3-Methylglutaconic aciduria type 1 3-Methylglutaconic aciduria type 1 SNOMED-CT Birth Defect Diagnosis Details
297231002 3-Methylglutaconic aciduria type 2 3-Methylglutaconic aciduria type 2 SNOMED-CT Birth Defect Diagnosis Details
297232009 3-Methylglutaconic aciduria type 3 3-Methylglutaconic aciduria type 3 SNOMED-CT Birth Defect Diagnosis Details
297233004 3-Methylglutaconic aciduria type 4 3-Methylglutaconic aciduria type 4 SNOMED-CT Birth Defect Diagnosis Details
237952001 3-Methylglutaconic aciduria with normal 3-methylglutaconyl-CoA hydratase activity 3-Methylglutaconic aciduria with normal 3-methylglutaconyl-CoA hydratase activity SNOMED-CT Birth Defect Diagnosis Details
57514000 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency SNOMED-CT Birth Defect Diagnosis Details
449819002 3p partial monosomy syndrome 3p partial monosomy syndrome SNOMED-CT Birth Defect Diagnosis Details
205719003 46, XX true hermaphrodite 46, XX true hermaphrodite SNOMED-CT Birth Defect Diagnosis Details
41797007 5,10-Methylenetetrahydrofolate reductase deficiency 5,10-Methylenetetrahydrofolate reductase deficiency SNOMED-CT Birth Defect Diagnosis Details
70173007 5p partial monosomy syndrome 5p partial monosomy syndrome SNOMED-CT Birth Defect Diagnosis Details