Chapter 4: Diagnosing and Coding Congenital Anomalies

Table of Contents

  1. Chapter 4: Diagnosing and Coding Congenital Anomalies
  2. 4.1 List of Selected External and Internal Congenital Anomalies to Consider for Monitoring
  3. 4.2 Congenital Malformations of the Nervous System: Neural Tube Defects
  4. 4.2a Anencephaly
  5. 4.2b Craniorachischisis (Q00.1)
  6. 4.2c Iniencephaly (Q00.2)
  7. 4.2d Encephalocele (Q01.0–Q01.83, Q01.9)
  8. 4.2e Spina Bifida (Q05.0–Q05.9)
  9. 4.3 Congenital Anomalies of the Nervous System: Microcephaly
  10. 4.4 Congenital Malformations of the Ear
  11. 4.5a Overview Congenital Heart D: Prenatal Diagnosis and Postnatal Confirmation
  12. 4.5b Common Truncus (Q20.0)
  13. 4.5c Transposition of Great Arteries (Q20.3)
  14. 4.5d Tetralogy of Fallot
  15. 4.5e Pulmonary Valve Atresia (Q22.0)
  16. 4.5f Tricuspid Valve Atresia (Q22.4)
  17. 4.5g Hypoplastic Left Heart Syndrome (Q23.4)
  18. 4.5h Interrupted Aortic Arch (q25.21, Preferred; Also Q25.2, Q25.4)
  19. 4.6 Orofacial Clefts
  20. 4.7 Congenital Malformations of the Digestive System
  21. 4.8 Congenital Malformations of Genital Organs Hypospadias (Q54.0–Q54.9)
  22. 4.9a Congenital Malformations and Deformations of the Musculoskeletal System: Talipes Equinovarus (Q66.0)
  23. 4.9b Congenital Malformations and Deformations of the Musculoskeletal System: Limb Reduction Defects/Limb Deficiencies
  24. 4.9c Limb Deficiency Amelia (Q71.0, Q72.0, Q73.0)
  25. 4.9d Limb Deficiency: Transverse Terminal (Q71.2, Q71.3, Q71.30, Q72.2, Q72.3, Q72.30)
  26. 4.9e Limb Deficiency: Transverse Intercalary (Q71.1, Q72.1, Q72.4)
  27. 4.9f Limb Deficiency: Longitudinal Preaxial (Tibia, Radius, First Ray) (Q71.31, Q71.4, Q72.31, Q72.5)
  28. 4.9g Limb Deficiency: Longitudinal Postaxial (Fibula, Ulna, Fifth Ray) (Q71.30, Q71.5, Q72.30, Q72.6)
  29. 4.9h Limb Deficiency: Longitudinal Axial Limb Deficiency – Split Hand and Foot (Q71.6, Q72.7)
  30. 4.10 Abdominal Wall Defects
  31. 4.11 Chromosomal Abnormalities
Summary

When planning activities for a surveillance programme, it’s important to consider the scope of the programme. Which congenital anomalies might a programme plan to monitor? This chapter presents a list of congenital anomalies to consider in the initial phase of monitoring. They were chosen because they are relatively easy to identify at birth, have a significant public health impact, and some of them have the potential to be prevented through public health interventions.

Chapter 4 provides:
  • Clinical information about four major types of congenital anomalies
  • Relevant ICD-10 and other codes
  • Access to photographs that exhibit clinical characteristics of featured diagnoses.
Highlights
  • Use the Photo Atlas to view photographs and relevant classification codes of birth defects. 
  • The Atlas can assist program staff in diagnosing and coding birth defects.