| Header | Description |
| Q00* | Anencephaly and similar malformations |
| Q01* | Encephalocele |
| 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 |
| Q07.0* | Arnold-Chiari syndrome |
| 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 |
| Q13.8* | Other 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 |
| Q25.2* | Atresia of aorta |
| Q25.4* | Other congenital malformations of aorta |
| Q25.7* | Other congenital malformations of pulmonary artery |
| Q26* | Congenital malformations of great veins |
| Q27* | Other congenital malformations of peripheral vascular system |
| Q27.3* | Arteriovenous malformation (peripheral) |
| 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 |
| Q50.0* | Congenital absence of ovary |
| Q50.3* | Other congenital malformations of ovary |
| Q51* | Congenital malformations of uterus and cervix |
| Q51.1* | Doubling of uterus with doubling of cervix and vagina |
| Q51.2* | Other doubling of uterus |
| Q51.8* | Other congenital malformations of uterus and cervix |
| Q51.81* | Other congenital malformations of uterus |
| Q51.82* | Other congenital malformations of cervix |
| Q52* | Other congenital malformations of female genitalia |
| Q52.1* | Doubling of vagina |
| Q52.12* | Longitudinal vaginal septum |
| Q52.7* | Other and unspecified congenital malformations of vulva |
| Q53* | Undescended and ectopic testicle |
| Q53.0* | Ectopic testis |
| Q53.1* | Undescended testicle, unilateral |
| Q53.11* | Abdominal testis, unilateral |
| Q53.2* | Undescended testicle, bilateral |
| Q53.21* | Abdominal testis, bilateral |
| Q54* | Hypospadias |
| Q55* | Other congenital malformations of male genital organs |
| Q55.2* | Other and unspecified congenital malformations of testis and scrotum |
| Q55.6* | Other congenital malformations of penis |
| Q56* | Indeterminate sex and pseudohermaphroditism |
| Q60* | Renal agenesis and other reduction defects of kidney |
| Q61* | Cystic kidney disease |
| Q61.0* | Congenital renal cyst |
| Q61.1* | Polycystic kidney, infantile type |
| Q62* | Congenital obstructive defects of renal pelvis and congenital malformations of ureter |
| Q62.1* | Congenital occlusion of ureter |
| Q62.3* | Other obstructive defects of renal pelvis and ureter |
| Q62.6* | Malposition of ureter |
| Q63* | Other congenital malformations of kidney |
| Q64* | Other congenital malformations of urinary system |
| Q64.1* | Exstrophy of urinary bladder |
| Q64.3* | Other atresia and stenosis of urethra and bladder neck |
| Q64.7* | Other and unspecified congenital malformations of bladder and urethra |
| Q65* | Congenital deformities of hip |
| Q65.0* | Congenital dislocation of hip, unilateral |
| Q65.3* | Congenital partial dislocation of hip, unilateral |
| Q65.8* | Other congenital deformities of hip |
| Q66* | Congenital deformities of feet |
| Q66.2* | Congenital metatarsus (primus) varus |
| Q66.5* | Congenital pes planus |
| Q66.8* | Other congenital deformities of feet |
| Q67* | Congenital musculoskeletal deformities of head, face, spine and chest |
| Q68* | Other congenital musculoskeletal deformities |
| Q69* | Polydactyly |
| Q70* | Syndactyly |
| Q70.0* | Fused fingers |
| Q70.1* | Webbed fingers |
| Q70.2* | Fused toes |
| Q70.3* | Webbed toes |
| Q71* | Reduction defects of upper limb |
| Q71.0* | Congenital complete absence of upper limb |
| Q71.1* | Congenital absence of upper arm and forearm with hand present |
| Q71.2* | Congenital absence of both forearm and hand |
| Q71.3* | Congenital absence of hand and finger |
| Q71.4* | Longitudinal reduction defect of radius |
| Q71.5* | Longitudinal reduction defect of ulna |
| Q71.6* | Lobster-claw hand |
| Q71.8* | Other reduction defects of upper limb |
| Q71.81* | Congenital shortening of upper limb |
| Q71.89* | Other reduction defects of upper limb |
| Q71.9* | Unspecified reduction defect of upper limb |
| Q72* | Reduction defects of lower limb |
| Q72.0* | Congenital complete absence of lower limb |
| Q72.1* | Congenital absence of thigh and lower leg with foot present |
| Q72.2* | Congenital absence of both lower leg and foot |
| Q72.3* | Congenital absence of foot and toe(s) |
| Q72.4* | Longitudinal reduction defect of femur |
| Q72.5* | Longitudinal reduction defect of tibia |
| Q72.6* | Longitudinal reduction defect of fibula |
| Q72.7* | Split foot |
| Q72.8* | Other reduction defects of lower limb |
| Q72.81* | Congenital shortening of lower limb |
| Q72.89* | Other reduction defects of lower limb |
| Q72.9* | Unspecified reduction defect 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 |
| Q76.4* | Other congenital malformations of spine, not associated with scoliosis |
| Q76.41* | Congenital kyphosis |
| Q76.42* | Congenital lordosis |
| Q77* | Osteochondrodysplasia with defects of growth of tubular bones and spine |
| Q78* | Other osteochondrodysplasias |
| Q79* | Congenital malformations of musculoskeletal system, not elsewhere classified |
| Q79.5* | Other congenital malformations of abdominal wall |
| 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 |
| Q85.0* | Neurofibromatosis (nonmalignant) |
| Q86* | Congenital malformation syndromes due to known exogenous causes, not elsewhere classified |
| Q87* | Other specified congenital malformation syndromes affecting multiple systems |
| Q87.4* | Marfan's syndrome |
| Q87.41* | Marfan's syndrome with cardiovascular manifestations |
| Q87.8* | Other specified congenital malformation syndromes, not elsewhere classified |
| Q89* | Other congenital malformations, not elsewhere classified |
| Q89.0* | Congenital absence and malformations of spleen |
| Q90* | Down syndrome |
| Q91* | Trisomy 18 and Trisomy 13 |
| Q92* | Other trisomies and partial trisomies of the autosomes, not elsewhere classified |
| Q92.6* | Marker chromosomes |
| Q93* | Monosomies and deletions from the autosomes, not elsewhere classified |
| Q93.5* | Other deletions of part of a chromosome |
| Q93.8* | Other deletions from the autosomes |
| 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 |
