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
  • Q44.0

    Agenesis, aplasia and hypoplasia of gallbladder

  • Q44.1

    Other congenital malformations of gallbladder

  • Q44.2

    Atresia of bile ducts

  • Q44.3

    Congenital stenosis and stricture of bile ducts

  • Q44.4

    Choledochal cyst

  • Q44.5

    Other congenital malformations of bile ducts

  • Q44.6

    Cystic disease of liver

  • Q44.7

    Other congenital malformations of liver

  • Q44.70

    Other congenital malformation of liver, unspecified

  • Q44.71

    Alagille syndrome

  • Q44.79

    Other congenital malformations of liver

  • Q45

    Other congenital malformations of digestive system

  • Q45.0

    Agenesis, aplasia and hypoplasia of pancreas

  • Q45.1

    Annular pancreas

  • Q45.2

    Congenital pancreatic cyst

  • Q45.3

    Other congenital malformations of pancreas and pancreatic duct

  • Q45.8

    Other specified congenital malformations of digestive system

  • Q45.9

    Congenital malformation of digestive system, unspecified

  • Q50

    Congenital malformations of ovaries, fallopian tubes and broad ligaments

  • Q50.0

    Congenital absence of ovary

  • Q50.01

    Congenital absence of ovary, unilateral

  • Q50.02

    Congenital absence of ovary, bilateral

  • Q50.1

    Developmental ovarian cyst

  • Q50.2

    Congenital torsion of ovary

  • Q50.3

    Other congenital malformations of ovary

  • Q50.31

    Accessory ovary

  • Q50.32

    Ovarian streak

  • Q50.39

    Other congenital malformation of ovary

  • Q50.4

    Embryonic cyst of fallopian tube

  • Q50.5

    Embryonic cyst of broad ligament

  • Q50.6

    Other congenital malformations of fallopian tube and broad ligament

  • Q51

    Congenital malformations of uterus and cervix

  • Q51.0

    Agenesis and aplasia of uterus

  • Q51.1

    Doubling of uterus with doubling of cervix and vagina

  • Q51.10

    Doubling of uterus with doubling of cervix and vagina without obstruction

  • Q51.11

    Doubling of uterus with doubling of cervix and vagina with obstruction

  • Q51.2

    Other doubling of uterus

  • Q51.21

    Complete doubling of uterus

  • Q51.22

    Partial doubling of uterus

  • Q51.28

    Other and unspecified doubling of uterus

  • Q51.3

    Bicornate uterus

  • Q51.4

    Unicornate uterus

  • Q51.5

    Agenesis and aplasia of cervix

  • Q51.6

    Embryonic cyst of cervix

  • Q51.7

    Congenital fistulae between uterus and digestive and urinary tracts

  • Q51.8

    Other congenital malformations of uterus and cervix

  • Q51.81

    Other congenital malformations of uterus

  • Q51.810

    Arcuate uterus

  • Q51.811

    Hypoplasia of uterus

  • Q51.818

    Other congenital malformations of uterus

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