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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