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
  • 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

  • Q52.70|

    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

  • Q53.00|

    Ectopic testis, unspecified

  • Q53.01|

    Ectopic testis, unilateral

  • Q53.02|

    Ectopic testes, bilateral

  • Q53.10|

    Unspecified undescended testicle, unilateral

  • Q53.111|

    Unilateral intraabdominal testis

  • Q53.112|

    Unilateral inguinal testis

  • Q53.12|

    Ectopic perineal testis, unilateral

  • Q53.13|

    Unilateral high scrotal testis

  • Q53.20|

    Undescended testicle, unspecified, 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

  • Q54.0|

    Hypospadias, balanic

  • Q54.1|

    Hypospadias, penile

  • Q54.2|

    Hypospadias, penoscrotal

  • Q54.3|

    Hypospadias, perineal

  • Q54.4|

    Congenital chordee

  • Q54.8|

    Other hypospadias

  • Q54.9|

    Hypospadias, unspecified

  • Q55.0|

    Absence and aplasia of testis

  • Q55.1|

    Hypoplasia of testis and scrotum

  • Q55.20|

    Unspecified congenital malformations of testis and scrotum

  • Q55.21|

    Polyorchism

  • Q55.22|

    Retractile testis

  • Q55.23|

    Scrotal transposition

  • Q55.29|

    Other congenital malformations of testis and scrotum

  • Q55.3|

    Atresia of vas deferens

  • Q55.4|

    Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostate

  • Q55.5|

    Congenital absence and aplasia of penis

  • Q55.61|

    Curvature of penis (lateral)

  • Q55.62|

    Hypoplasia of penis

  • Q55.63|

    Congenital torsion of penis

  • Q55.64|

    Hidden penis

  • Q55.69|

    Other congenital malformation of penis

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