Congenital Abnormalities [C16.131]
Genetic Diseases, Inborn [C16.320]
Infant, Newborn, Diseases [C16.614]
22q11.2 Deletion (DiGeorge Syndrome, Velocardiofacial Syndrome)
Anomalies of Skull and Face Bones (Craniosynostosis, Treacher Collins Syndrome, Plagiocephaly, Microsomia, Crouzon Syndrome, Saethre-Chotzen Syndrome, Rubinstein-Taybi Syndrome, and Others)
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Barth Syndrome
Biliary Atresia
Chondrodystrophy (Chondrodysplasia, Achondroplasia, Exostosis, and Other Types)
Cleft Lip; Cleft Palate; Orofacial Cleft
Congenital Diaphragmatic Hernia
Congenital Heart Disease
Congenital Malformation Syndromes (Smith-Lemli-Opitz, Noonan, Beckwith-Wiedemann, VATER/VACTERL, Klippel-Trenaunay, Williams, Alagille, Alport, and Others)
Down Syndrome (Trisomy 21)
Edwards' Syndrome (Trisomy 18)
Epidermolysis Bullosa
Esophageal Atresia; Tracheoesophageal Fistula
Fetal Alcohol Spectrum Disorder; Fetal Alcohol Syndrome; Alcohol-Related Neurodevelopmental Disorder
Fragile X Syndrome
Gastroschisis
Indeterminate Sex; Pseudohermaphroditism
Intestinal Atresia; Duodenal Atresia; Duodenal Stenosis; Choanal Atresia; Colonic Atresia
Klinefelter Syndrome (47,XXY)
Marfan Syndrome
Microcephaly
Neurofibromatosis (Type 1 and Type 2)
Omphalocele
Osteogenesis Imperfecta (Brittle Bone Disease)
Prader-Willi Syndrome
Skeletal Dysplasia; Osteodystrophy; Osteochondrodysplasia
Spina Bifida
Tetralogy of Fallot
Transposition of the Great Arteries; Transposition of the Great Vessels
Tuberous Sclerosis
Turner Syndrome
Von Hippel-Lindau Syndrome; Sturge-Weber Syndrome; Peutz-Jeghers Syndrome
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