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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