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
  • Q37.2|

    Cleft soft palate with bilateral cleft lip

  • Q37.3|

    Cleft soft palate with unilateral cleft lip

  • Q37.4|

    Cleft hard and soft palate with bilateral cleft lip

  • Q37.5|

    Cleft hard and soft palate with unilateral cleft lip

  • Q37.8|

    Unspecified cleft palate with bilateral cleft lip

  • Q37.9|

    Unspecified cleft palate with unilateral cleft lip

  • Q38.0|

    Congenital malformations of lips, not elsewhere classified

  • 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

  • Q39.0|

    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

  • Q40.0|

    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

  • Q41.0|

    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

  • Q42.0|

    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

  • Q43.0|

    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

PreviousPage 6 of 18Next