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
  • Q38.1

    Ankyloglossia

  • Q38.2

    Macroglossia

  • Q38.3

    Other congenital malformations of tongue

  • Q38.4

    Congenital malformations of salivary glands and ducts

  • Q38.5

    Congenital malformations of palate, not elsewhere classified

  • Q38.6

    Other congenital malformations of mouth

  • Q38.7

    Congenital pharyngeal pouch

  • Q38.8

    Other congenital malformations of pharynx

  • Q39

    Congenital malformations of esophagus

  • Q39.0

    Atresia of esophagus without fistula

  • Q39.1

    Atresia of esophagus with tracheo-esophageal fistula

  • Q39.2

    Congenital tracheo-esophageal fistula without atresia

  • Q39.3

    Congenital stenosis and stricture of esophagus

  • Q39.4

    Esophageal web

  • Q39.5

    Congenital dilatation of esophagus

  • Q39.6

    Congenital diverticulum of esophagus

  • Q39.8

    Other congenital malformations of esophagus

  • Q39.9

    Congenital malformation of esophagus, unspecified

  • Q40

    Other congenital malformations of upper alimentary tract

  • Q40.0

    Congenital hypertrophic pyloric stenosis

  • Q40.1

    Congenital hiatus hernia

  • Q40.2

    Other specified congenital malformations of stomach

  • Q40.3

    Congenital malformation of stomach, unspecified

  • Q40.8

    Other specified congenital malformations of upper alimentary tract

  • Q40.9

    Congenital malformation of upper alimentary tract, unspecified

  • Q41

    Congenital absence, atresia and stenosis of small intestine

  • Q41.0

    Congenital absence, atresia and stenosis of duodenum

  • Q41.1

    Congenital absence, atresia and stenosis of jejunum

  • Q41.2

    Congenital absence, atresia and stenosis of ileum

  • Q41.8

    Congenital absence, atresia and stenosis of other specified parts of small intestine

  • Q41.9

    Congenital absence, atresia and stenosis of small intestine, part unspecified

  • Q42

    Congenital absence, atresia and stenosis of large intestine

  • Q42.0

    Congenital absence, atresia and stenosis of rectum with fistula

  • Q42.1

    Congenital absence, atresia and stenosis of rectum without fistula

  • Q42.2

    Congenital absence, atresia and stenosis of anus with fistula

  • Q42.3

    Congenital absence, atresia and stenosis of anus without fistula

  • Q42.8

    Congenital absence, atresia and stenosis of other parts of large intestine

  • Q42.9

    Congenital absence, atresia and stenosis of large intestine, part unspecified

  • Q43

    Other congenital malformations of intestine

  • Q43.0

    Meckel's diverticulum (displaced) (hypertrophic)

  • Q43.1

    Hirschsprung's disease

  • Q43.2

    Other congenital functional disorders of colon

  • Q43.3

    Congenital malformations of intestinal fixation

  • Q43.4

    Duplication of intestine

  • Q43.5

    Ectopic anus

  • Q43.6

    Congenital fistula of rectum and anus

  • Q43.7

    Persistent cloaca

  • Q43.8

    Other specified congenital malformations of intestine

  • Q43.9

    Congenital malformation of intestine, unspecified

  • Q44

    Congenital malformations of gallbladder, bile ducts and liver

PreviousPage 7 of 22Next