Congenital malformations, deformations and chromosomal abnormalities

  • 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)