Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)

Browse all the diagnosis codes used for congenital malformations, deformations and chromosomal abnormalities (q00-q99). For easy navigation, the diagnosis codes are sorted in alphabetical order and grouped by sections. Each section is clearly marked with its description, and the corresponding three-digit code range. This format makes it simple to browse diagnosis codes in this chapter or section and find what you're looking for. We've also added green checkmark icons to label billable codes, and red warning icons for non-billable ones. This makes it easy to identify which codes can be billed.
  • Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)

    Note: Codes from this chapter are not for use on maternal or fetal records

    Excludes2: inborn errors of metabolism (E70-E88)

    • Congenital malformations of the nervous system (Q00-Q07)

      • Anencephaly and similar malformations (Q00)
      • Encephalocele (Q01)
      • Microcephaly (Q02)
      • Congenital hydrocephalus (Q03)
      • Other congenital malformations of brain (Q04)
      • Spina bifida (Q05)
      • Other congenital malformations of spinal cord (Q06)
      • Other congenital malformations of nervous system (Q07)
    • Congenital malformations of eye, ear, face and neck (Q10-Q18)

      • Congenital malformations of eyelid, lacrimal apparatus and orbit (Q10)
      • Anophthalmos, microphthalmos and macrophthalmos (Q11)
      • Congenital lens malformations (Q12)
      • Congenital malformations of anterior segment of eye (Q13)
      • Congenital malformations of posterior segment of eye (Q14)
      • Other congenital malformations of eye (Q15)
      • Congenital malformations of ear causing impairment of hearing (Q16)
      • Other congenital malformations of ear (Q17)
      • Other congenital malformations of face and neck (Q18)
    • Congenital malformations of the circulatory system (Q20-Q28)

      • Congenital malformations of cardiac chambers and connections (Q20)
      • Congenital malformations of cardiac septa (Q21)
      • Congenital malformations of pulmonary and tricuspid valves (Q22)
      • Congenital malformations of aortic and mitral valves (Q23)
      • Other congenital malformations of heart (Q24)
      • Congenital malformations of great arteries (Q25)
      • Congenital malformations of great veins (Q26)
      • Other congenital malformations of peripheral vascular system (Q27)
      • Other congenital malformations of circulatory system (Q28)
    • Congenital malformations of the respiratory system (Q30-Q34)

      • Congenital malformations of nose (Q30)
      • Congenital malformations of larynx (Q31)
      • Congenital malformations of trachea and bronchus (Q32)
      • Congenital malformations of lung (Q33)
      • Other congenital malformations of respiratory system (Q34)
    • Cleft lip and cleft palate (Q35-Q37)

      • Cleft palate (Q35)
      • Cleft lip (Q36)
      • Cleft palate with cleft lip (Q37)
    • Other congenital malformations of the digestive system (Q38-Q45)

      • Other congenital malformations of tongue, mouth and pharynx (Q38)
      • Congenital malformations of esophagus (Q39)
      • Other congenital malformations of upper alimentary tract (Q40)
      • Congenital absence, atresia and stenosis of small intestine (Q41)
      • Congenital absence, atresia and stenosis of large intestine (Q42)
      • Other congenital malformations of intestine (Q43)
      • Congenital malformations of gallbladder, bile ducts and liver (Q44)
      • Other congenital malformations of digestive system (Q45)
    • Congenital malformations of genital organs (Q50-Q56)

      • Congenital malformations of ovaries, fallopian tubes and broad ligaments (Q50)
      • Congenital malformations of uterus and cervix (Q51)
      • Other congenital malformations of female genitalia (Q52)
      • Undescended and ectopic testicle (Q53)
      • Hypospadias (Q54)
      • Other congenital malformations of male genital organs (Q55)
      • Indeterminate sex and pseudohermaphroditism (Q56)
    • Congenital malformations of the urinary system (Q60-Q64)

      • Renal agenesis and other reduction defects of kidney (Q60)
      • Cystic kidney disease (Q61)
      • Congenital obstructive defects of renal pelvis and congenital malformations of ureter (Q62)
      • Other congenital malformations of kidney (Q63)
      • Other congenital malformations of urinary system (Q64)
    • Congenital malformations and deformations of the musculoskeletal system (Q65-Q79)

      • Congenital deformities of hip (Q65)
      • Congenital deformities of feet (Q66)
      • Congenital musculoskeletal deformities of head, face, spine and chest (Q67)
      • Other congenital musculoskeletal deformities (Q68)
      • Polydactyly (Q69)
      • Syndactyly (Q70)
      • Reduction defects of upper limb (Q71)
      • Reduction defects of lower limb (Q72)
      • Reduction defects of unspecified limb (Q73)
      • Other congenital malformations of limb(s) (Q74)
      • Other congenital malformations of skull and face bones (Q75)
      • Congenital malformations of spine and bony thorax (Q76)
      • Osteochondrodysplasia with defects of growth of tubular bones and spine (Q77)
      • Other osteochondrodysplasias (Q78)
      • Congenital malformations of musculoskeletal system, not elsewhere classified (Q79)
    • Other congenital malformations (Q80-Q89)

      • Congenital ichthyosis (Q80)
      • Epidermolysis bullosa (Q81)
      • Other congenital malformations of skin (Q82)
      • Congenital malformations of breast (Q83)
      • Other congenital malformations of integument (Q84)
      • Phakomatoses, not elsewhere classified (Q85)
      • Congenital malformation syndromes due to known exogenous causes, not elsewhere classified (Q86)
      • Other specified congenital malformation syndromes affecting multiple systems (Q87)
      • Other congenital malformations, not elsewhere classified (Q89)
    • Chromosomal abnormalities, not elsewhere classified (Q90-Q99)

      • Down syndrome (Q90)
      • Trisomy 18 and Trisomy 13 (Q91)
      • Other trisomies and partial trisomies of the autosomes, not elsewhere classified (Q92)
      • Monosomies and deletions from the autosomes, not elsewhere classified (Q93)
      • Balanced rearrangements and structural markers, not elsewhere classified (Q95)
      • Turner's syndrome (Q96)
      • Other sex chromosome abnormalities, female phenotype, not elsewhere classified (Q97)
      • Other sex chromosome abnormalities, male phenotype, not elsewhere classified (Q98)
      • Other chromosome abnormalities, not elsewhere classified (Q99)