Chapter 17: Congenital malformations, deformations and chromosomal abnormalities (Q00-QA0)

Q00 Anencephaly and similar malformations Q01 Encephalocele Q02 Microcephaly Q03 Congenital hydrocephalus Q04 Other congenital malformations of brain Q05 Spina bifida Q06 Other congenital malformations of spinal cord Q07 Other congenital malformations of nervous system Q10 Congenital malformations of eyelid, lacrimal apparatus and orbit Q11 Anophthalmos, microphthalmos and macrophthalmos Q12 Congenital lens malformations Q13 Congenital malformations of anterior segment of eye Q14 Congenital malformations of posterior segment of eye Q15 Other congenital malformations of eye Q16 Congenital malformations of ear causing impairment of hearing Q17 Other congenital malformations of ear Q18 Other congenital malformations of face and neck Q20 Congenital malformations of cardiac chambers and connections Q21 Congenital malformations of cardiac septa Q22 Congenital malformations of pulmonary and tricuspid valves Q23 Congenital malformations of aortic and mitral valves Q24 Other congenital malformations of heart Q25 Congenital malformations of great arteries Q26 Congenital malformations of great veins Q27 Other congenital malformations of peripheral vascular system Q28 Other congenital malformations of circulatory system Q30 Congenital malformations of nose Q31 Congenital malformations of larynx Q32 Congenital malformations of trachea and bronchus Q33 Congenital malformations of lung Q34 Other congenital malformations of respiratory system Q35 Cleft palate Q36 Cleft lip Q37 Cleft palate with cleft lip Q38 Other congenital malformations of tongue, mouth and pharynx Q39 Congenital malformations of esophagus Q40 Other congenital malformations of upper alimentary tract Q41 Congenital absence, atresia and stenosis of small intestine Q42 Congenital absence, atresia and stenosis of large intestine Q43 Other congenital malformations of intestine Q44 Congenital malformations of gallbladder, bile ducts and liver Q45 Other congenital malformations of digestive system Q50 Congenital malformations of ovaries, fallopian tubes and broad ligaments Q51 Congenital malformations of uterus and cervix Q52 Other congenital malformations of female genitalia Q53 Undescended and ectopic testicle Q54 Hypospadias Q55 Other congenital malformations of male genital organs Q56 Indeterminate sex and pseudohermaphroditism Q60 Renal agenesis and other reduction defects of kidney Q61 Cystic kidney disease Q62 Congenital obstructive defects of renal pelvis and congenital malformations of ureter Q63 Other congenital malformations of kidney Q64 Other congenital malformations of urinary system Q65 Congenital deformities of hip Q66 Congenital deformities of feet Q67 Congenital musculoskeletal deformities of head, face, spine and chest Q68 Other congenital musculoskeletal deformities Q69 Polydactyly Q70 Syndactyly Q71 Reduction defects of upper limb Q72 Reduction defects of lower limb Q73 Reduction defects of unspecified limb Q74 Other congenital malformations of limb(s) Q75 Other congenital malformations of skull and face bones Q76 Congenital malformations of spine and bony thorax Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine Q78 Other osteochondrodysplasias Q79 Congenital malformations of musculoskeletal system, not elsewhere classified Q80 Congenital ichthyosis Q81 Epidermolysis bullosa Q82 Other congenital malformations of skin Q83 Congenital malformations of breast Q84 Other congenital malformations of integument Q85 Phakomatoses, not elsewhere classified Q86 Congenital malformation syndromes due to known exogenous causes, not elsewhere classified Q87 Other specified congenital malformation syndromes affecting multiple systems Q89 Other congenital malformations, not elsewhere classified Q90 Down syndrome Q91 Trisomy 18 and Trisomy 13 Q92 Other trisomies and partial trisomies of the autosomes, not elsewhere classified Q93 Monosomies and deletions from the autosomes, not elsewhere classified Q95 Balanced rearrangements and structural markers, not elsewhere classified Q96 Turner's syndrome Q97 Other sex chromosome abnormalities, female phenotype, not elsewhere classified Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified Q99 Other chromosome abnormalities, not elsewhere classified QA0 Neurodevelopmental disorders related to specific genetic pathogenic variants