2020 Congenital Anomaly Codes (Appendix C)

Congenital Anomaly Codes

Central Nervous System Anomalies
Code   Description
101      Anencephaly
102      Meningomyelocele
103      Hydranencephaly
104      Congenital Hydrocephalus
105      Holoprosencephaly
106      Encephalocele
901      Other lethal or life threatening central nervous system anomaly not listed above (description required)

Congenital Heart Anomalies
Code   Description
201      Truncus Arteriosus
202      Transposition of the Great Vessels
203      Tetralogy of Fallot with or without Pulmonary Atresia
204      Single Ventricle
205      Double Outlet Right Ventricle
206      Complete Atrio-Ventricular Canal
207      Pulmonary Atresia with Intact Ventricular Septum
208      Tricuspid Atresia
209      Hypoplastic Left Heart Syndrome
210      Interrupted Aortic Arch
211      Total Anomalous Pulmonary Venous Return
212      Pentalogy of Cantrell (Thoraco-Abdominal Ectopia Cordis)
213      Coarctation of the Aorta requiring surgical or medical intervention
214      Atrial Septal Defect requiring surgical or medical intervention
215      Ventricular Septal Defect requiring surgical or medical intervention
216      Arrythmia requiring surgical or medical intervention
217       Ebstein’s Anomaly requiring surgical or medical intervention
218       Pulmonary Valvular Stenosis requiring surgical or medical intervention
902      Other lethal or life threatening heart anomaly not listed above (description required)

Gastro-Intestinal Anomalies
Code   Description
301      Cleft Palate
302      Tracheo-Esophageal Fistula
303      Esophageal Atresia
304      Duodenal Atresia
305      Jejunal Atresia
306     Ileal Atresia
307      Atresia of Large Bowel or Rectum
308      Imperforate Anus
309      Omphalocele
310      Gastroschisis
311      Biliary Atresia
312      Malrotation
313      Hirschsprung’s Disease requiring surgical or medical intervention
314      Sacrococcygeal teratoma requiring surgical or medical intervention
903      Other lethal or life threatening gastro-intestinal anomaly not listed above (description required)

Genito-Urinary Anomalies
Code   Description
401      Bilateral Renal Agenesis
402      Bilateral Polycystic, Multicystic, or Dysplastic Kidneys
403      Obstructive Uropathy with Congenital Hydronephrosis
404      Exstrophy of the Urinary Bladder
904      Other lethal or life threatening genito-urinary anomaly not listed above (description required)

Chromosomal Anomalies
Code   Description
501      Trisomy 13
502      Trisomy 18
503      Trisomy 21
504      Other chromosomal anomaly not listed above (description required)
505      Triploidy

Other Congenital Anomalies
Code   Description
601      Skeletal Dysplasia (description required)
602      Congenital Diaphragmatic Hernia
603      Hydrops Fetalis with anasarca and one or more of the following: ascites, pleural effusion, pericardial effusion
604      Oligohydramnios Sequence including all 3 of the following: (1) Oligohydramnios documented by antenatal ultrasound 5 or more days prior to delivery, (2) evidence of fetal constraint on postnatal physical exam (such as Potter’s facies, contractures, or positional deformities of limbs), and (3) postnatal respiratory failure requiring endotracheal intubation and assisted ventilation.
605      Inborn Error of Metabolism (description required)
606      Myotonic Dystrophy requiring endotracheal intubation and assisted ventilation
607      Conjoined Twins
608      Tracheal Agenesis or Atresia
609      Thanatophoric Dysplasia Types 1 and 2
610      Hemoglobin Barts

Pulmonary Anomalies
Code   Description
701      Congenital Cystic Adenomatoid Malformation of the Lung
907      Other lethal or life threatening pulmonary anomaly not listed above (description required)

Other Lethal or Life Threatening Anomalies
Code   Description
100      Other lethal or life threatening anomalies not listed above (description required)