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
  • Q51.82|

    Other congenital malformations of cervix

  • Q51.820|

    Cervical duplication

  • Q51.821|

    Hypoplasia of cervix

  • Q51.828|

    Other congenital malformations of cervix

  • Q51.9|

    Congenital malformation of uterus and cervix, unspecified

  • Q52|

    Other congenital malformations of female genitalia

  • Q52.0|

    Congenital absence of vagina

  • Q52.1|

    Doubling of vagina

  • Q52.10|

    Doubling of vagina, unspecified

  • Q52.11|

    Transverse vaginal septum

  • Q52.12|

    Longitudinal vaginal septum

  • Q52.120|

    Longitudinal vaginal septum, nonobstructing

  • Q52.121|

    Longitudinal vaginal septum, obstructing, right side

  • Q52.122|

    Longitudinal vaginal septum, obstructing, left side

  • Q52.123|

    Longitudinal vaginal septum, microperforate, right side

  • Q52.124|

    Longitudinal vaginal septum, microperforate, left side

  • Q52.129|

    Other and unspecified longitudinal vaginal septum

  • Q52.2|

    Congenital rectovaginal fistula

  • Q52.3|

    Imperforate hymen

  • Q52.4|

    Other congenital malformations of vagina

  • Q52.5|

    Fusion of labia

  • Q52.6|

    Congenital malformation of clitoris

  • Q52.7|

    Other and unspecified congenital malformations of vulva

  • Q52.70|

    Unspecified congenital malformations of vulva

  • Q52.71|

    Congenital absence of vulva

  • Q52.79|

    Other congenital malformations of vulva

  • Q52.8|

    Other specified congenital malformations of female genitalia

  • Q52.9|

    Congenital malformation of female genitalia, unspecified

  • Q53|

    Undescended and ectopic testicle

  • Q53.0|

    Ectopic testis

  • Q53.00|

    Ectopic testis, unspecified

  • Q53.01|

    Ectopic testis, unilateral

  • Q53.02|

    Ectopic testes, bilateral

  • Q53.1|

    Undescended testicle, unilateral

  • Q53.10|

    Unspecified undescended testicle, unilateral

  • Q53.11|

    Abdominal testis, unilateral

  • Q53.111|

    Unilateral intraabdominal testis

  • Q53.112|

    Unilateral inguinal testis

  • Q53.12|

    Ectopic perineal testis, unilateral

  • Q53.13|

    Unilateral high scrotal testis

  • Q53.2|

    Undescended testicle, bilateral

  • Q53.20|

    Undescended testicle, unspecified, bilateral

  • Q53.21|

    Abdominal testis, bilateral

  • Q53.211|

    Bilateral intraabdominal testes

  • Q53.212|

    Bilateral inguinal testes

  • Q53.22|

    Ectopic perineal testis, bilateral

  • Q53.23|

    Bilateral high scrotal testes

  • Q53.9|

    Undescended testicle, unspecified

  • Q54|

    Hypospadias

  • Q54.0|

    Hypospadias, balanic

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