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

Top-Level Codes in This Chapter

• Q00 Anencephaly and similar malformations
• Q01 Encephalocele
• Q02 Microcephaly Billable
• 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