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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