Chapter 17

Q00–Q99: Congenital Malformations, Deformations and Chromosomal Abnormalities

Congenital Malformations, Deformations and Chromosomal Abnormalities diagnostic classification updated for 2026.

Chapter Instructions

Excludes2(Not included here. Code separately if applicable.)
  • inborn errors of metabolism (E70-E88)
Internal Codes
  • Q16.2

    Absence of eustachian tube

  • Q16.3

    Congenital malformation of ear ossicles

  • Q16.4

    Other congenital malformations of middle ear

  • Q16.5

    Congenital malformation of inner ear

  • Q16.9

    Congenital malformation of ear causing impairment of hearing, unspecified

  • Q17

    Other congenital malformations of ear

  • Q17.0

    Accessory auricle

  • Q17.1

    Macrotia

  • Q17.2

    Microtia

  • Q17.3

    Other misshapen ear

  • Q17.4

    Misplaced ear

  • Q17.5

    Prominent ear

  • Q17.8

    Other specified congenital malformations of ear

  • Q17.9

    Congenital malformation of ear, unspecified

  • Q18

    Other congenital malformations of face and neck

  • Q18.0

    Sinus, fistula and cyst of branchial cleft

  • Q18.1

    Preauricular sinus and cyst

  • Q18.2

    Other branchial cleft malformations

  • Q18.3

    Webbing of neck

  • Q18.4

    Macrostomia

  • Q18.5

    Microstomia

  • Q18.6

    Macrocheilia

  • Q18.7

    Microcheilia

  • Q18.8

    Other specified congenital malformations of face and neck

  • Q18.9

    Congenital malformation of face and neck, unspecified

  • Q20

    Congenital malformations of cardiac chambers and connections

  • Q20.0

    Common arterial trunk

  • Q20.1

    Double outlet right ventricle

  • Q20.2

    Double outlet left ventricle

  • Q20.3

    Discordant ventriculoarterial connection

  • Q20.4

    Double inlet ventricle

  • Q20.5

    Discordant atrioventricular connection

  • Q20.6

    Isomerism of atrial appendages

  • Q20.8

    Other congenital malformations of cardiac chambers and connections

  • Q20.9

    Congenital malformation of cardiac chambers and connections, unspecified

  • Q21

    Congenital malformations of cardiac septa

  • Q21.0

    Ventricular septal defect

  • Q21.1

    Atrial septal defect

  • Q21.10

    Atrial septal defect, unspecified

  • Q21.11

    Secundum atrial septal defect

  • Q21.12

    Patent foramen ovale

  • Q21.13

    Coronary sinus atrial septal defect

  • Q21.14

    Superior sinus venosus atrial septal defect

  • Q21.15

    Inferior sinus venosus atrial septal defect

  • Q21.16

    Sinus venosus atrial septal defect, unspecified

  • Q21.19

    Other specified atrial septal defect

  • Q21.2

    Atrioventricular septal defect

  • Q21.20

    Atrioventricular septal defect, unspecified as to partial or complete

  • Q21.21

    Partial atrioventricular septal defect

  • Q21.22

    Transitional atrioventricular septal defect

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