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Value Set Information

Value Set Code	PHVS_BirthDefectDiagnosis_CDC	Download 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

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Value Set Concepts
Value Set Details

	Concept Code	Concept Name	Preferred Concept Name	Code System	Value Set
Select AllSelect All Clear AllClear All Download AllDownload All Download SelectedDownload Selected
	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

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,