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Nursing and Allied Health: [C16] Congenital, Hereditary, and Neonatal Diseases and Abnormalities

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Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]

Congenital Abnormalities [C16.131]


Fetal Diseases [C16.300]

Genetic Diseases, Inborn [C16.320]

Infant, Newborn, Diseases [C16.614]

Other Terms


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


Indeterminate Sex; Pseudohermaphroditism

Intestinal Atresia; Duodenal Atresia; Duodenal Stenosis; Choanal Atresia; Colonic Atresia

Klinefelter Syndrome (47,XXY)

Marfan Syndrome


Neurofibromatosis (Type 1 and Type 2)


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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