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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