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
  • 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

    Other congenital malformations of male genital organs

  • Q55.0

    Absence and aplasia of testis

  • Q55.1

    Hypoplasia of testis and scrotum

  • Q55.2

    Other and unspecified congenital malformations 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

  • Q55.6

    Other congenital malformations 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

  • Q55.7

    Congenital vasocutaneous fistula

  • Q55.8

    Other specified congenital malformations of male genital organs

  • Q55.9

    Congenital malformation of male genital organ, unspecified

  • Q56

    Indeterminate sex and pseudohermaphroditism

  • Q56.0

    Hermaphroditism, not elsewhere classified

  • Q56.1

    Male pseudohermaphroditism, not elsewhere classified

  • Q56.2

    Female pseudohermaphroditism, not elsewhere classified

  • Q56.3

    Pseudohermaphroditism, unspecified

  • Q56.4

    Indeterminate sex, unspecified

  • Q60

    Renal agenesis and other reduction defects of kidney

  • Q60.0

    Renal agenesis, unilateral

  • Q60.1

    Renal agenesis, bilateral

  • Q60.2

    Renal agenesis, unspecified

  • Q60.3

    Renal hypoplasia, unilateral

  • Q60.4

    Renal hypoplasia, bilateral

  • Q60.5

    Renal hypoplasia, unspecified

  • Q60.6

    Potter's syndrome

  • Q61

    Cystic kidney disease

  • Q61.0

    Congenital renal cyst

  • Q61.00

    Congenital renal cyst, unspecified

  • Q61.01

    Congenital single renal cyst

  • Q61.02

    Congenital multiple renal cysts

  • Q61.1

    Polycystic kidney, infantile type

  • Q61.11

    Cystic dilatation of collecting ducts

  • Q61.19

    Other polycystic kidney, infantile type

  • Q61.2

    Polycystic kidney, adult type

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