| Q00 | Anencephaly and similar malformations |
| Q00.0 | Anencephaly |
| Q00.1 | Craniorachischisis |
| Q00.2 | Iniencephaly |
| Q01 | Encephalocele |
| Q01.0 | Frontal encephalocele |
| Q01.1 | Nasofrontal encephalocele |
| Q01.2 | Occipital encephalocele |
| Q01.8 | Encephalocele of other sites |
| Q01.9 | Encephalocele, unspecified |
| Q02 | Microcephaly |
| Q03 | Congenital hydrocephalus |
| Q03.0 | Malformations of aqueduct of Sylvius |
| Q03.1 | Atresia of foramina of Magendie and Luschka |
| Q03.8 | Other congenital hydrocephalus |
| Q03.9 | Congenital hydrocephalus, unspecified |
| Q04 | Other congenital malformations of brain |
| Q04.0 | Congenital malformations of corpus callosum |
| Q04.1 | Arhinencephaly |
| Q04.2 | Holoprosencephaly |
| Q04.3 | Other reduction deformities of brain |
| Q04.4 | Septo-optic dysplasia of brain |
| Q04.5 | Megalencephaly |
| Q04.6 | Congenital cerebral cysts |
| Q04.8 | Other specified congenital malformations of brain |
| Q04.9 | Congenital malformation of brain, unspecified |
| Q05 | Spina bifida |
| Q05.0 | Cervical spina bifida with hydrocephalus |
| Q05.1 | Thoracic spina bifida with hydrocephalus |
| Q05.2 | Lumbar spina bifida with hydrocephalus |
| Q05.3 | Sacral spina bifida with hydrocephalus |
| Q05.4 | Unspecified spina bifida with hydrocephalus |
| Q05.5 | Cervical spina bifida without hydrocephalus |
| Q05.6 | Thoracic spina bifida without hydrocephalus |
| Q05.7 | Lumbar spina bifida without hydrocephalus |
| Q05.8 | Sacral spina bifida without hydrocephalus |
| Q05.9 | Spina bifida, unspecified |
| Q06 | Other congenital malformations of spinal cord |
| Q06.0 | Amyelia |
| Q06.1 | Hypoplasia and dysplasia of spinal cord |
| Q06.2 | Diastematomyelia |
| Q06.3 | Other congenital cauda equina malformations |
| Q06.4 | Hydromyelia |
| Q06.8 | Other specified congenital malformations of spinal cord |
| Q06.9 | Congenital malformation of spinal cord, unspecified |
| Q07 | Other congenital malformations of nervous system |
| Q07.0 | Arnold-Chiari syndrome |
| Q07.00 | Arnold-Chiari syndrome without spina bifida or hydrocephalus |
| Q07.01 | Arnold-Chiari syndrome with spina bifida |
| Q07.02 | Arnold-Chiari syndrome with hydrocephalus |
| Q07.03 | Arnold-Chiari syndrome with spina bifida and hydrocephalus |
| Q07.8 | Other specified congenital malformations of nervous system |
| Q07.9 | Congenital malformation of nervous system, unspecified |
| Q10 | Congenital malformations of eyelid, lacrimal apparatus and orbit |
| Q10.0 | Congenital ptosis |
| Q10.1 | Congenital ectropion |
| Q10.2 | Congenital entropion |
| Q10.3 | Other congenital malformations of eyelid |
| Q10.4 | Absence and agenesis of lacrimal apparatus |
| Q10.5 | Congenital stenosis and stricture of lacrimal duct |
| Q10.6 | Other congenital malformations of lacrimal apparatus |
| Q10.7 | Congenital malformation of orbit |
| Q11 | Anophthalmos, microphthalmos and macrophthalmos |
| Q11.0 | Cystic eyeball |
| Q11.1 | Other anophthalmos |
| Q11.2 | Microphthalmos |
| Q11.3 | Macrophthalmos |
| Q12 | Congenital lens malformations |
| Q12.0 | Congenital cataract |
| Q12.1 | Congenital displaced lens |
| Q12.2 | Coloboma of lens |
| Q12.3 | Congenital aphakia |
| Q12.4 | Spherophakia |
| Q12.8 | Other congenital lens malformations |
| Q12.9 | Congenital lens malformation, unspecified |
| Q13 | Congenital malformations of anterior segment of eye |
| Q13.0 | Coloboma of iris |
| Q13.1 | Absence of iris |
| Q13.2 | Other congenital malformations of iris |
| Q13.3 | Congenital corneal opacity |
| Q13.4 | Other congenital corneal malformations |
| Q13.5 | Blue sclera |
| Q13.8 | Other congenital malformations of anterior segment of eye |
| Q13.81 | Rieger's anomaly |
| Q13.89 | Other congenital malformations of anterior segment of eye |
| Q13.9 | Congenital malformation of anterior segment of eye, unspecified |
| Q14 | Congenital malformations of posterior segment of eye |
| Q14.0 | Congenital malformation of vitreous humor |
| Q14.1 | Congenital malformation of retina |
| Q14.2 | Congenital malformation of optic disc |
| Q14.3 | Congenital malformation of choroid |
| Q14.8 | Other congenital malformations of posterior segment of eye |
| Q14.9 | Congenital malformation of posterior segment of eye, unspecified |
| Q15 | Other congenital malformations of eye |
| Q15.0 | Congenital glaucoma |
| Q15.8 | Other specified congenital malformations of eye |
| Q15.9 | Congenital malformation of eye, unspecified |
| Q16 | Congenital malformations of ear causing impairment of hearing |
| Q16.0 | Congenital absence of (ear) auricle |
| Q16.1 | Congenital absence, atresia and stricture of auditory canal (external) |
| Q16.2 | Absence of eustachian tube |
| Q16.3 | Congenital malformation of ear ossicles |
| Q16.4 | Other congenital malformations of middle ear |
| Q16.5 | Congenital malformation of inner ear |
| Q16.9 | Congenital malformation of ear causing impairment of hearing, unspecified |
| Q17 | Other congenital malformations of ear |
| Q17.0 | Accessory auricle |
| Q17.1 | Macrotia |
| Q17.2 | Microtia |
| Q17.3 | Other misshapen ear |
| Q17.4 | Misplaced ear |
| Q17.5 | Prominent ear |
| Q17.8 | Other specified congenital malformations of ear |
| Q17.9 | Congenital malformation of ear, unspecified |
| Q18 | Other congenital malformations of face and neck |
| Q18.0 | Sinus, fistula and cyst of branchial cleft |
| Q18.1 | Preauricular sinus and cyst |
| Q18.2 | Other branchial cleft malformations |
| Q18.3 | Webbing of neck |
| Q18.4 | Macrostomia |
| Q18.5 | Microstomia |
| Q18.6 | Macrocheilia |
| Q18.7 | Microcheilia |
| Q18.8 | Other specified congenital malformations of face and neck |
| Q18.9 | Congenital malformation of face and neck, unspecified |
| Q20 | Congenital malformations of cardiac chambers and connections |
| Q20.0 | Common arterial trunk |
| Q20.1 | Double outlet right ventricle |
| Q20.2 | Double outlet left ventricle |
| Q20.3 | Discordant ventriculoarterial connection |
| Q20.4 | Double inlet ventricle |
| Q20.5 | Discordant atrioventricular connection |
| Q20.6 | Isomerism of atrial appendages |
| Q20.8 | Other congenital malformations of cardiac chambers and connections |
| Q20.9 | Congenital malformation of cardiac chambers and connections, unspecified |
| Q21 | Congenital malformations of cardiac septa |
| Q21.0 | Ventricular septal defect |
| Q21.1 | Atrial septal defect |
| Q21.2 | Atrioventricular septal defect |
| Q21.3 | Tetralogy of Fallot |
| Q21.4 | Aortopulmonary septal defect |
| Q21.8 | Other congenital malformations of cardiac septa |
| Q21.9 | Congenital malformation of cardiac septum, unspecified |
| Q22 | Congenital malformations of pulmonary and tricuspid valves |
| Q22.0 | Pulmonary valve atresia |
| Q22.1 | Congenital pulmonary valve stenosis |
| Q22.2 | Congenital pulmonary valve insufficiency |
| Q22.3 | Other congenital malformations of pulmonary valve |
| Q22.4 | Congenital tricuspid stenosis |
| Q22.5 | Ebstein's anomaly |
| Q22.6 | Hypoplastic right heart syndrome |
| Q22.8 | Other congenital malformations of tricuspid valve |
| Q22.9 | Congenital malformation of tricuspid valve, unspecified |
| Q23 | Congenital malformations of aortic and mitral valves |
| Q23.0 | Congenital stenosis of aortic valve |
| Q23.1 | Congenital insufficiency of aortic valve |
| Q23.2 | Congenital mitral stenosis |
| Q23.3 | Congenital mitral insufficiency |
| Q23.4 | Hypoplastic left heart syndrome |
| Q23.8 | Other congenital malformations of aortic and mitral valves |
| Q23.9 | Congenital malformation of aortic and mitral valves, unspecified |
| Q24 | Other congenital malformations of heart |
| Q24.0 | Dextrocardia |
| Q24.1 | Levocardia |
| Q24.2 | Cor triatriatum |
| Q24.3 | Pulmonary infundibular stenosis |
| Q24.4 | Congenital subaortic stenosis |
| Q24.5 | Malformation of coronary vessels |
| Q24.6 | Congenital heart block |
| Q24.8 | Other specified congenital malformations of heart |
| Q24.9 | Congenital malformation of heart, unspecified |
| Q25 | Congenital malformations of great arteries |
| Q25.0 | Patent ductus arteriosus |
| Q25.1 | Coarctation of aorta |
| Q25.2 | Atresia of aorta |
| Q25.3 | Supravalvular aortic stenosis |
| Q25.4 | Other congenital malformations of aorta |
| Q25.5 | Atresia of pulmonary artery |
| Q25.6 | Stenosis of pulmonary artery |
| Q25.7 | Other congenital malformations of pulmonary artery |
| Q25.71 | Coarctation of pulmonary artery |
| Q25.72 | Congenital pulmonary arteriovenous malformation |
| Q25.79 | Other congenital malformations of pulmonary artery |
| Q25.8 | Other congenital malformations of other great arteries |
| Q25.9 | Congenital malformation of great arteries, unspecified |
| Q26 | Congenital malformations of great veins |
| Q26.0 | Congenital stenosis of vena cava |
| Q26.1 | Persistent left superior vena cava |
| Q26.2 | Total anomalous pulmonary venous connection |
| Q26.3 | Partial anomalous pulmonary venous connection |
| Q26.4 | Anomalous pulmonary venous connection, unspecified |
| Q26.5 | Anomalous portal venous connection |
| Q26.6 | Portal vein-hepatic artery fistula |
| Q26.8 | Other congenital malformations of great veins |
| Q26.9 | Congenital malformation of great vein, unspecified |
| Q27 | Other congenital malformations of peripheral vascular system |
| Q27.0 | Congenital absence and hypoplasia of umbilical artery |
| Q27.1 | Congenital renal artery stenosis |
| Q27.2 | Other congenital malformations of renal artery |
| Q27.3 | Arteriovenous malformation (peripheral) |
| Q27.30 | Arteriovenous malformation, site unspecified |
| Q27.31 | Arteriovenous malformation of vessel of upper limb |
| Q27.32 | Arteriovenous malformation of vessel of lower limb |
| Q27.33 | Arteriovenous malformation of digestive system vessel |
| Q27.34 | Arteriovenous malformation of renal vessel |
| Q27.39 | Arteriovenous malformation, other site |
| Q27.4 | Congenital phlebectasia |
| Q27.8 | Other specified congenital malformations of peripheral vascular system |
| Q27.9 | Congenital malformation of peripheral vascular system, unspecified |
| Q28 | Other congenital malformations of circulatory system |
| Q28.0 | Arteriovenous malformation of precerebral vessels |
| Q28.1 | Other malformations of precerebral vessels |
| Q28.2 | Arteriovenous malformation of cerebral vessels |
| Q28.3 | Other malformations of cerebral vessels |
| Q28.8 | Other specified congenital malformations of circulatory system |
| Q28.9 | Congenital malformation of circulatory system, unspecified |
| Q30 | Congenital malformations of nose |
| Q30.0 | Choanal atresia |
| Q30.1 | Agenesis and underdevelopment of nose |
| Q30.2 | Fissured, notched and cleft nose |
| Q30.3 | Congenital perforated nasal septum |
| Q30.8 | Other congenital malformations of nose |
| Q30.9 | Congenital malformation of nose, unspecified |
| Q31 | Congenital malformations of larynx |
| Q31.0 | Web of larynx |
| Q31.1 | Congenital subglottic stenosis |
| Q31.2 | Laryngeal hypoplasia |
| Q31.3 | Laryngocele |
| Q31.5 | Congenital laryngomalacia |
| Q31.8 | Other congenital malformations of larynx |
| Q31.9 | Congenital malformation of larynx, unspecified |
| Q32 | Congenital malformations of trachea and bronchus |
| Q32.0 | Congenital tracheomalacia |
| Q32.1 | Other congenital malformations of trachea |
| Q32.2 | Congenital bronchomalacia |
| Q32.3 | Congenital stenosis of bronchus |
| Q32.4 | Other congenital malformations of bronchus |
| Q33 | Congenital malformations of lung |
| Q33.0 | Congenital cystic lung |
| Q33.1 | Accessory lobe of lung |
| Q33.2 | Sequestration of lung |
| Q33.3 | Agenesis of lung |
| Q33.4 | Congenital bronchiectasis |
| Q33.5 | Ectopic tissue in lung |
| Q33.6 | Congenital hypoplasia and dysplasia of lung |
| Q33.8 | Other congenital malformations of lung |
| Q33.9 | Congenital malformation of lung, unspecified |
| Q34 | Other congenital malformations of respiratory system |
| Q34.0 | Anomaly of pleura |
| Q34.1 | Congenital cyst of mediastinum |
| Q34.8 | Other specified congenital malformations of respiratory system |
| Q34.9 | Congenital malformation of respiratory system, unspecified |
| Q35 | Cleft palate |
| Q35.1 | Cleft hard palate |
| Q35.3 | Cleft soft palate |
| Q35.5 | Cleft hard palate with cleft soft palate |
| Q35.7 | Cleft uvula |
| Q35.9 | Cleft palate, unspecified |
| Q36 | Cleft lip |
| Q36.0 | Cleft lip, bilateral |
| Q36.1 | Cleft lip, median |
| Q36.9 | Cleft lip, unilateral |
| Q37 | Cleft palate with cleft lip |
| Q37.0 | Cleft hard palate with bilateral cleft lip |
| Q37.1 | Cleft hard palate with unilateral cleft lip |
| Q37.2 | Cleft soft palate with bilateral cleft lip |
| Q37.3 | Cleft soft palate with unilateral cleft lip |
| Q37.4 | Cleft hard and soft palate with bilateral cleft lip |
| Q37.5 | Cleft hard and soft palate with unilateral cleft lip |
| Q37.8 | Unspecified cleft palate with bilateral cleft lip |
| Q37.9 | Unspecified cleft palate with unilateral cleft lip |
| Q38 | Other congenital malformations of tongue, mouth and pharynx |
| Q38.0 | Congenital malformations of lips, not elsewhere classified |
| Q38.1 | Ankyloglossia |
| Q38.2 | Macroglossia |
| Q38.3 | Other congenital malformations of tongue |
| Q38.4 | Congenital malformations of salivary glands and ducts |
| Q38.5 | Congenital malformations of palate, not elsewhere classified |
| Q38.6 | Other congenital malformations of mouth |
| Q38.7 | Congenital pharyngeal pouch |
| Q38.8 | Other congenital malformations of pharynx |
| Q39 | Congenital malformations of esophagus |
| Q39.0 | Atresia of esophagus without fistula |
| Q39.1 | Atresia of esophagus with tracheo-esophageal fistula |
| Q39.2 | Congenital tracheo-esophageal fistula without atresia |
| Q39.3 | Congenital stenosis and stricture of esophagus |
| Q39.4 | Esophageal web |
| Q39.5 | Congenital dilatation of esophagus |
| Q39.6 | Congenital diverticulum of esophagus |
| Q39.8 | Other congenital malformations of esophagus |
| Q39.9 | Congenital malformation of esophagus, unspecified |
| Q40 | Other congenital malformations of upper alimentary tract |
| Q40.0 | Congenital hypertrophic pyloric stenosis |
| Q40.1 | Congenital hiatus hernia |
| Q40.2 | Other specified congenital malformations of stomach |
| Q40.3 | Congenital malformation of stomach, unspecified |
| Q40.8 | Other specified congenital malformations of upper alimentary tract |
| Q40.9 | Congenital malformation of upper alimentary tract, unspecified |
| Q41 | Congenital absence, atresia and stenosis of small intestine |
| Q41.0 | Congenital absence, atresia and stenosis of duodenum |
| Q41.1 | Congenital absence, atresia and stenosis of jejunum |
| Q41.2 | Congenital absence, atresia and stenosis of ileum |
| Q41.8 | Congenital absence, atresia and stenosis of other specified parts of small intestine |
| Q41.9 | Congenital absence, atresia and stenosis of small intestine, part unspecified |
| Q42 | Congenital absence, atresia and stenosis of large intestine |
| Q42.0 | Congenital absence, atresia and stenosis of rectum with fistula |
| Q42.1 | Congenital absence, atresia and stenosis of rectum without fistula |
| Q42.2 | Congenital absence, atresia and stenosis of anus with fistula |
| Q42.3 | Congenital absence, atresia and stenosis of anus without fistula |
| Q42.8 | Congenital absence, atresia and stenosis of other parts of large intestine |
| Q42.9 | Congenital absence, atresia and stenosis of large intestine, part unspecified |
| Q43 | Other congenital malformations of intestine |
| Q43.0 | Meckel's diverticulum (displaced) (hypertrophic) |
| Q43.1 | Hirschsprung's disease |
| Q43.2 | Other congenital functional disorders of colon |
| Q43.3 | Congenital malformations of intestinal fixation |
| Q43.4 | Duplication of intestine |
| Q43.5 | Ectopic anus |
| Q43.6 | Congenital fistula of rectum and anus |
| Q43.7 | Persistent cloaca |
| Q43.8 | Other specified congenital malformations of intestine |
| Q43.9 | Congenital malformation of intestine, unspecified |
| Q44 | Congenital malformations of gallbladder, bile ducts and liver |
| Q44.0 | Agenesis, aplasia and hypoplasia of gallbladder |
| Q44.1 | Other congenital malformations of gallbladder |
| Q44.2 | Atresia of bile ducts |
| Q44.3 | Congenital stenosis and stricture of bile ducts |
| Q44.4 | Choledochal cyst |
| Q44.5 | Other congenital malformations of bile ducts |
| Q44.6 | Cystic disease of liver |
| Q44.7 | Other congenital malformations of liver |
| Q45 | Other congenital malformations of digestive system |
| Q45.0 | Agenesis, aplasia and hypoplasia of pancreas |
| Q45.1 | Annular pancreas |
| Q45.2 | Congenital pancreatic cyst |
| Q45.3 | Other congenital malformations of pancreas and pancreatic duct |
| Q45.8 | Other specified congenital malformations of digestive system |
| Q45.9 | Congenital malformation of digestive system, unspecified |
| Q50 | Congenital malformations of ovaries, fallopian tubes and broad ligaments |
| Q50.0 | Congenital absence of ovary |
| Q50.01 | Congenital absence of ovary, unilateral |
| Q50.02 | Congenital absence of ovary, bilateral |
| Q50.1 | Developmental ovarian cyst |
| Q50.2 | Congenital torsion of ovary |
| Q50.3 | Other congenital malformations of ovary |
| Q50.31 | Accessory ovary |
| Q50.32 | Ovarian streak |
| Q50.39 | Other congenital malformation of ovary |
| Q50.4 | Embryonic cyst of fallopian tube |
| Q50.5 | Embryonic cyst of broad ligament |
| Q50.6 | Other congenital malformations of fallopian tube and broad ligament |
| Q51 | Congenital malformations of uterus and cervix |
| Q51.0 | Agenesis and aplasia of uterus |
| Q51.1 | Doubling of uterus with doubling of cervix and vagina |
| Q51.10 | Doubling of uterus with doubling of cervix and vagina without obstruction |
| Q51.11 | Doubling of uterus with doubling of cervix and vagina with obstruction |
| Q51.2 | Other doubling of uterus |
| Q51.3 | Bicornate uterus |
| Q51.4 | Unicornate uterus |
| Q51.5 | Agenesis and aplasia of cervix |
| Q51.6 | Embryonic cyst of cervix |
| Q51.7 | Congenital fistulae between uterus and digestive and urinary tracts |
| Q51.8 | Other congenital malformations of uterus and cervix |
| Q51.81 | Other congenital malformations of uterus |
| Q51.810 | Arcuate uterus |
| Q51.811 | Hypoplasia of uterus |
| Q51.818 | Other congenital malformations of uterus |
| Q51.82 | Other congenital malformations of cervix |
| Q51.820 | Cervical duplication |
| Q51.821 | Hypoplasia of cervix |
| Q51.828 | Other congenital malformations of cervix |
| Q51.9 | Congenital malformation of uterus and cervix, unspecified |
| Q52 | Other congenital malformations of female genitalia |
| Q52.0 | Congenital absence of vagina |
| Q52.1 | Doubling of vagina |
| Q52.10 | Doubling of vagina, unspecified |
| Q52.11 | Transverse vaginal septum |
| Q52.12 | Longitudinal vaginal septum |
| Q52.2 | Congenital rectovaginal fistula |
| Q52.3 | Imperforate hymen |
| Q52.4 | Other congenital malformations of vagina |
| Q52.5 | Fusion of labia |
| Q52.6 | Congenital malformation of clitoris |
| Q52.7 | Other and unspecified congenital malformations of vulva |
| Q52.70 | Unspecified congenital malformations of vulva |
| Q52.71 | Congenital absence of vulva |
| Q52.79 | Other congenital malformations of vulva |
| Q52.8 | Other specified congenital malformations of female genitalia |
| Q52.9 | Congenital malformation of female genitalia, unspecified |
| Q53 | Undescended and ectopic testicle |
| Q53.0 | Ectopic testis |
| Q53.00 | Ectopic testis, unspecified |
| Q53.01 | Ectopic testis, unilateral |
| Q53.02 | Ectopic testes, bilateral |
| Q53.1 | Undescended testicle, unilateral |
| Q53.10 | Unspecified undescended testicle, unilateral |
| Q53.11 | Abdominal testis, unilateral |
| Q53.12 | Ectopic perineal testis, unilateral |
| Q53.2 | Undescended testicle, bilateral |
| Q53.20 | Undescended testicle, unspecified, bilateral |
| Q53.21 | Abdominal testis, bilateral |
| Q53.22 | Ectopic perineal testis, bilateral |
| Q53.9 | Undescended testicle, unspecified |
| Q54 | Hypospadias |
| Q54.0 | Hypospadias, balanic |
| Q54.1 | Hypospadias, penile |
| Q54.2 | Hypospadias, penoscrotal |
| Q54.3 | Hypospadias, perineal |
| Q54.4 | Congenital chordee |
| Q54.8 | Other hypospadias |
| Q54.9 | Hypospadias, unspecified |
| Q55 | Other congenital malformations of male genital organs |
| Q55.0 | Absence and aplasia of testis |
| Q55.1 | Hypoplasia of testis and scrotum |
| Q55.2 | Other and unspecified congenital malformations of testis and scrotum |
| Q55.20 | Unspecified congenital malformations of testis and scrotum |
| Q55.21 | Polyorchism |
| Q55.22 | Retractile testis |
| Q55.23 | Scrotal transposition |
| Q55.29 | Other congenital malformations of testis and scrotum |
| Q55.3 | Atresia of vas deferens |
| Q55.4 | Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostate |
| Q55.5 | Congenital absence and aplasia of penis |
| Q55.6 | Other congenital malformations of penis |
| Q55.61 | Curvature of penis (lateral) |
| Q55.62 | Hypoplasia of penis |
| Q55.63 | Congenital torsion of penis |
| Q55.64 | Hidden penis |
| Q55.69 | Other congenital malformation of penis |
| Q55.7 | Congenital vasocutaneous fistula |
| Q55.8 | Other specified congenital malformations of male genital organs |
| Q55.9 | Congenital malformation of male genital organ, unspecified |
| Q56 | Indeterminate sex and pseudohermaphroditism |
| Q56.0 | Hermaphroditism, not elsewhere classified |
| Q56.1 | Male pseudohermaphroditism, not elsewhere classified |
| Q56.2 | Female pseudohermaphroditism, not elsewhere classified |
| Q56.3 | Pseudohermaphroditism, unspecified |
| Q56.4 | Indeterminate sex, unspecified |
| Q60 | Renal agenesis and other reduction defects of kidney |
| Q60.0 | Renal agenesis, unilateral |
| Q60.1 | Renal agenesis, bilateral |
| Q60.2 | Renal agenesis, unspecified |
| Q60.3 | Renal hypoplasia, unilateral |
| Q60.4 | Renal hypoplasia, bilateral |
| Q60.5 | Renal hypoplasia, unspecified |
| Q60.6 | Potter's syndrome |
| Q61 | Cystic kidney disease |
| Q61.0 | Congenital renal cyst |
| Q61.00 | Congenital renal cyst, unspecified |
| Q61.01 | Congenital single renal cyst |
| Q61.02 | Congenital multiple renal cysts |
| Q61.1 | Polycystic kidney, infantile type |
| Q61.11 | Cystic dilatation of collecting ducts |
| Q61.19 | Other polycystic kidney, infantile type |
| Q61.2 | Polycystic kidney, adult type |
| Q61.3 | Polycystic kidney, unspecified |
| Q61.4 | Renal dysplasia |
| Q61.5 | Medullary cystic kidney |
| Q61.8 | Other cystic kidney diseases |
| Q61.9 | Cystic kidney disease, unspecified |
| Q62 | Congenital obstructive defects of renal pelvis and congenital malformations of ureter |
| Q62.0 | Congenital hydronephrosis |
| Q62.1 | Congenital occlusion of ureter |
| Q62.10 | Congenital occlusion of ureter, unspecified |
| Q62.11 | Congenital occlusion of ureteropelvic junction |
| Q62.12 | Congenital occlusion of ureterovesical orifice |
| Q62.2 | Congenital megaureter |
| Q62.3 | Other obstructive defects of renal pelvis and ureter |
| Q62.31 | Congenital ureterocele, orthotopic |
| Q62.32 | Cecoureterocele |
| Q62.39 | Other obstructive defects of renal pelvis and ureter |
| Q62.4 | Agenesis of ureter |
| Q62.5 | Duplication of ureter |
| Q62.6 | Malposition of ureter |
| Q62.60 | Malposition of ureter, unspecified |
| Q62.61 | Deviation of ureter |
| Q62.62 | Displacement of ureter |
| Q62.63 | Anomalous implantation of ureter |
| Q62.69 | Other malposition of ureter |
| Q62.7 | Congenital vesico-uretero-renal reflux |
| Q62.8 | Other congenital malformations of ureter |
| Q63 | Other congenital malformations of kidney |
| Q63.0 | Accessory kidney |
| Q63.1 | Lobulated, fused and horseshoe kidney |
| Q63.2 | Ectopic kidney |
| Q63.3 | Hyperplastic and giant kidney |
| Q63.8 | Other specified congenital malformations of kidney |
| Q63.9 | Congenital malformation of kidney, unspecified |
| Q64 | Other congenital malformations of urinary system |
| Q64.0 | Epispadias |
| Q64.1 | Exstrophy of urinary bladder |
| Q64.10 | Exstrophy of urinary bladder, unspecified |
| Q64.11 | Supravesical fissure of urinary bladder |
| Q64.12 | Cloacal extrophy of urinary bladder |
| Q64.19 | Other exstrophy of urinary bladder |
| Q64.2 | Congenital posterior urethral valves |
| Q64.3 | Other atresia and stenosis of urethra and bladder neck |
| Q64.31 | Congenital bladder neck obstruction |
| Q64.32 | Congenital stricture of urethra |
| Q64.33 | Congenital stricture of urinary meatus |
| Q64.39 | Other atresia and stenosis of urethra and bladder neck |
| Q64.4 | Malformation of urachus |
| Q64.5 | Congenital absence of bladder and urethra |
| Q64.6 | Congenital diverticulum of bladder |
| Q64.7 | Other and unspecified congenital malformations of bladder and urethra |
| Q64.70 | Unspecified congenital malformation of bladder and urethra |
| Q64.71 | Congenital prolapse of urethra |
| Q64.72 | Congenital prolapse of urinary meatus |
| Q64.73 | Congenital urethrorectal fistula |
| Q64.74 | Double urethra |
| Q64.75 | Double urinary meatus |
| Q64.79 | Other congenital malformations of bladder and urethra |
| Q64.8 | Other specified congenital malformations of urinary system |
| Q64.9 | Congenital malformation of urinary system, unspecified |
| Q65 | Congenital deformities of hip |
| Q65.0 | Congenital dislocation of hip, unilateral |
| Q65.00 | Congenital dislocation of unspecified hip, unilateral |
| Q65.01 | Congenital dislocation of right hip, unilateral |
| Q65.02 | Congenital dislocation of left hip, unilateral |
| Q65.1 | Congenital dislocation of hip, bilateral |
| Q65.2 | Congenital dislocation of hip, unspecified |
| Q65.3 | Congenital partial dislocation of hip, unilateral |
| Q65.30 | Congenital partial dislocation of unspecified hip, unilateral |
| Q65.31 | Congenital partial dislocation of right hip, unilateral |
| Q65.32 | Congenital partial dislocation of left hip, unilateral |
| Q65.4 | Congenital partial dislocation of hip, bilateral |
| Q65.5 | Congenital partial dislocation of hip, unspecified |
| Q65.6 | Congenital unstable hip |
| Q65.8 | Other congenital deformities of hip |
| Q65.81 | Congenital coxa valga |
| Q65.82 | Congenital coxa vara |
| Q65.89 | Other specified congenital deformities of hip |
| Q65.9 | Congenital deformity of hip, unspecified |
| Q66 | Congenital deformities of feet |
| Q66.0 | Congenital talipes equinovarus |
| Q66.1 | Congenital talipes calcaneovarus |
| Q66.2 | Congenital metatarsus (primus) varus |
| Q66.3 | Other congenital varus deformities of feet |
| Q66.4 | Congenital talipes calcaneovalgus |
| Q66.5 | Congenital pes planus |
| Q66.50 | Congenital pes planus, unspecified foot |
| Q66.51 | Congenital pes planus, right foot |
| Q66.52 | Congenital pes planus, left foot |
| Q66.6 | Other congenital valgus deformities of feet |
| Q66.7 | Congenital pes cavus |
| Q66.8 | Other congenital deformities of feet |
| Q66.80 | Congenital vertical talus deformity, unspecified foot |
| Q66.81 | Congenital vertical talus deformity, right foot |
| Q66.82 | Congenital vertical talus deformity, left foot |
| Q66.89 | Other specified congenital deformities of feet |
| Q66.9 | Congenital deformity of feet, unspecified |
| Q67 | Congenital musculoskeletal deformities of head, face, spine and chest |
| Q67.0 | Congenital facial asymmetry |
| Q67.1 | Congenital compression facies |
| Q67.2 | Dolichocephaly |
| Q67.3 | Plagiocephaly |
| Q67.4 | Other congenital deformities of skull, face and jaw |
| Q67.5 | Congenital deformity of spine |
| Q67.6 | Pectus excavatum |
| Q67.7 | Pectus carinatum |
| Q67.8 | Other congenital deformities of chest |
| Q68 | Other congenital musculoskeletal deformities |
| Q68.0 | Congenital deformity of sternocleidomastoid muscle |
| Q68.1 | Congenital deformity of finger(s) and hand |
| Q68.2 | Congenital deformity of knee |
| Q68.3 | Congenital bowing of femur |
| Q68.4 | Congenital bowing of tibia and fibula |
| Q68.5 | Congenital bowing of long bones of leg, unspecified |
| Q68.6 | Discoid meniscus |
| Q68.8 | Other specified congenital musculoskeletal deformities |
| Q69 | Polydactyly |
| Q69.0 | Accessory finger(s) |
| Q69.1 | Accessory thumb(s) |
| Q69.2 | Accessory toe(s) |
| Q69.9 | Polydactyly, unspecified |
| Q70 | Syndactyly |
| Q70.0 | Fused fingers |
| Q70.00 | Fused fingers, unspecified hand |
| Q70.01 | Fused fingers, right hand |
| Q70.02 | Fused fingers, left hand |
| Q70.03 | Fused fingers, bilateral |
| Q70.1 | Webbed fingers |
| Q70.10 | Webbed fingers, unspecified hand |
| Q70.11 | Webbed fingers, right hand |
| Q70.12 | Webbed fingers, left hand |
| Q70.13 | Webbed fingers, bilateral |
| Q70.2 | Fused toes |
| Q70.20 | Fused toes, unspecified foot |
| Q70.21 | Fused toes, right foot |
| Q70.22 | Fused toes, left foot |
| Q70.23 | Fused toes, bilateral |
| Q70.3 | Webbed toes |
| Q70.30 | Webbed toes, unspecified foot |
| Q70.31 | Webbed toes, right foot |
| Q70.32 | Webbed toes, left foot |
| Q70.33 | Webbed toes, bilateral |
| Q70.4 | Polysyndactyly, unspecified |
| Q70.9 | Syndactyly, unspecified |
| Q71 | Reduction defects of upper limb |
| Q71.0 | Congenital complete absence of upper limb |
| Q71.00 | Congenital complete absence of unspecified upper limb |
| Q71.01 | Congenital complete absence of right upper limb |
| Q71.02 | Congenital complete absence of left upper limb |
| Q71.03 | Congenital complete absence of upper limb, bilateral |
| Q71.1 | Congenital absence of upper arm and forearm with hand present |
| Q71.10 | Congenital absence of unspecified upper arm and forearm with hand present |
| Q71.11 | Congenital absence of right upper arm and forearm with hand present |
| Q71.12 | Congenital absence of left upper arm and forearm with hand present |
| Q71.13 | Congenital absence of upper arm and forearm with hand present, bilateral |
| Q71.2 | Congenital absence of both forearm and hand |
| Q71.20 | Congenital absence of both forearm and hand, unspecified upper limb |
| Q71.21 | Congenital absence of both forearm and hand, right upper limb |
| Q71.22 | Congenital absence of both forearm and hand, left upper limb |
| Q71.23 | Congenital absence of both forearm and hand, bilateral |
| Q71.3 | Congenital absence of hand and finger |
| Q71.30 | Congenital absence of unspecified hand and finger |
| Q71.31 | Congenital absence of right hand and finger |
| Q71.32 | Congenital absence of left hand and finger |
| Q71.33 | Congenital absence of hand and finger, bilateral |
| Q71.4 | Longitudinal reduction defect of radius |
| Q71.40 | Longitudinal reduction defect of unspecified radius |
| Q71.41 | Longitudinal reduction defect of right radius |
| Q71.42 | Longitudinal reduction defect of left radius |
| Q71.43 | Longitudinal reduction defect of radius, bilateral |
| Q71.5 | Longitudinal reduction defect of ulna |
| Q71.50 | Longitudinal reduction defect of unspecified ulna |
| Q71.51 | Longitudinal reduction defect of right ulna |
| Q71.52 | Longitudinal reduction defect of left ulna |
| Q71.53 | Longitudinal reduction defect of ulna, bilateral |
| Q71.6 | Lobster-claw hand |
| Q71.60 | Lobster-claw hand, unspecified hand |
| Q71.61 | Lobster-claw right hand |
| Q71.62 | Lobster-claw left hand |
| Q71.63 | Lobster-claw hand, bilateral |
| Q71.8 | Other reduction defects of upper limb |
| Q71.81 | Congenital shortening of upper limb |
| Q71.811 | Congenital shortening of right upper limb |
| Q71.812 | Congenital shortening of left upper limb |
| Q71.813 | Congenital shortening of upper limb, bilateral |
| Q71.819 | Congenital shortening of unspecified upper limb |
| Q71.89 | Other reduction defects of upper limb |
| Q71.891 | Other reduction defects of right upper limb |
| Q71.892 | Other reduction defects of left upper limb |
| Q71.893 | Other reduction defects of upper limb, bilateral |
| Q71.899 | Other reduction defects of unspecified upper limb |
| Q71.9 | Unspecified reduction defect of upper limb |
| Q71.90 | Unspecified reduction defect of unspecified upper limb |
| Q71.91 | Unspecified reduction defect of right upper limb |
| Q71.92 | Unspecified reduction defect of left upper limb |
| Q71.93 | Unspecified reduction defect of upper limb, bilateral |
| Q72 | Reduction defects of lower limb |
| Q72.0 | Congenital complete absence of lower limb |
| Q72.00 | Congenital complete absence of unspecified lower limb |
| Q72.01 | Congenital complete absence of right lower limb |
| Q72.02 | Congenital complete absence of left lower limb |
| Q72.03 | Congenital complete absence of lower limb, bilateral |
| Q72.1 | Congenital absence of thigh and lower leg with foot present |
| Q72.10 | Congenital absence of unspecified thigh and lower leg with foot present |
| Q72.11 | Congenital absence of right thigh and lower leg with foot present |
| Q72.12 | Congenital absence of left thigh and lower leg with foot present |
| Q72.13 | Congenital absence of thigh and lower leg with foot present, bilateral |
| Q72.2 | Congenital absence of both lower leg and foot |
| Q72.20 | Congenital absence of both lower leg and foot, unspecified lower limb |
| Q72.21 | Congenital absence of both lower leg and foot, right lower limb |
| Q72.22 | Congenital absence of both lower leg and foot, left lower limb |
| Q72.23 | Congenital absence of both lower leg and foot, bilateral |
| Q72.3 | Congenital absence of foot and toe(s) |
| Q72.30 | Congenital absence of unspecified foot and toe(s) |
| Q72.31 | Congenital absence of right foot and toe(s) |
| Q72.32 | Congenital absence of left foot and toe(s) |
| Q72.33 | Congenital absence of foot and toe(s), bilateral |
| Q72.4 | Longitudinal reduction defect of femur |
| Q72.40 | Longitudinal reduction defect of unspecified femur |
| Q72.41 | Longitudinal reduction defect of right femur |
| Q72.42 | Longitudinal reduction defect of left femur |
| Q72.43 | Longitudinal reduction defect of femur, bilateral |
| Q72.5 | Longitudinal reduction defect of tibia |
| Q72.50 | Longitudinal reduction defect of unspecified tibia |
| Q72.51 | Longitudinal reduction defect of right tibia |
| Q72.52 | Longitudinal reduction defect of left tibia |
| Q72.53 | Longitudinal reduction defect of tibia, bilateral |
| Q72.6 | Longitudinal reduction defect of fibula |
| Q72.60 | Longitudinal reduction defect of unspecified fibula |
| Q72.61 | Longitudinal reduction defect of right fibula |
| Q72.62 | Longitudinal reduction defect of left fibula |
| Q72.63 | Longitudinal reduction defect of fibula, bilateral |
| Q72.7 | Split foot |
| Q72.70 | Split foot, unspecified lower limb |
| Q72.71 | Split foot, right lower limb |
| Q72.72 | Split foot, left lower limb |
| Q72.73 | Split foot, bilateral |
| Q72.8 | Other reduction defects of lower limb |
| Q72.81 | Congenital shortening of lower limb |
| Q72.811 | Congenital shortening of right lower limb |
| Q72.812 | Congenital shortening of left lower limb |
| Q72.813 | Congenital shortening of lower limb, bilateral |
| Q72.819 | Congenital shortening of unspecified lower limb |
| Q72.89 | Other reduction defects of lower limb |
| Q72.891 | Other reduction defects of right lower limb |
| Q72.892 | Other reduction defects of left lower limb |
| Q72.893 | Other reduction defects of lower limb, bilateral |
| Q72.899 | Other reduction defects of unspecified lower limb |
| Q72.9 | Unspecified reduction defect of lower limb |
| Q72.90 | Unspecified reduction defect of unspecified lower limb |
| Q72.91 | Unspecified reduction defect of right lower limb |
| Q72.92 | Unspecified reduction defect of left lower limb |
| Q72.93 | Unspecified reduction defect of lower limb, bilateral |
| Q73 | Reduction defects of unspecified limb |
| Q73.0 | Congenital absence of unspecified limb(s) |
| Q73.1 | Phocomelia, unspecified limb(s) |
| Q73.8 | Other reduction defects of unspecified limb(s) |
| Q74 | Other congenital malformations of limb(s) |
| Q74.0 | Other congenital malformations of upper limb(s), including shoulder girdle |
| Q74.1 | Congenital malformation of knee |
| Q74.2 | Other congenital malformations of lower limb(s), including pelvic girdle |
| Q74.3 | Arthrogryposis multiplex congenita |
| Q74.8 | Other specified congenital malformations of limb(s) |
| Q74.9 | Unspecified congenital malformation of limb(s) |
| Q75 | Other congenital malformations of skull and face bones |
| Q75.0 | Craniosynostosis |
| Q75.1 | Craniofacial dysostosis |
| Q75.2 | Hypertelorism |
| Q75.3 | Macrocephaly |
| Q75.4 | Mandibulofacial dysostosis |
| Q75.5 | Oculomandibular dysostosis |
| Q75.8 | Other specified congenital malformations of skull and face bones |
| Q75.9 | Congenital malformation of skull and face bones, unspecified |
| Q76 | Congenital malformations of spine and bony thorax |
| Q76.0 | Spina bifida occulta |
| Q76.1 | Klippel-Feil syndrome |
| Q76.2 | Congenital spondylolisthesis |
| Q76.3 | Congenital scoliosis due to congenital bony malformation |
| Q76.4 | Other congenital malformations of spine, not associated with scoliosis |
| Q76.41 | Congenital kyphosis |
| Q76.411 | Congenital kyphosis, occipito-atlanto-axial region |
| Q76.412 | Congenital kyphosis, cervical region |
| Q76.413 | Congenital kyphosis, cervicothoracic region |
| Q76.414 | Congenital kyphosis, thoracic region |
| Q76.415 | Congenital kyphosis, thoracolumbar region |
| Q76.419 | Congenital kyphosis, unspecified region |
| Q76.42 | Congenital lordosis |
| Q76.425 | Congenital lordosis, thoracolumbar region |
| Q76.426 | Congenital lordosis, lumbar region |
| Q76.427 | Congenital lordosis, lumbosacral region |
| Q76.428 | Congenital lordosis, sacral and sacrococcygeal region |
| Q76.429 | Congenital lordosis, unspecified region |
| Q76.49 | Other congenital malformations of spine, not associated with scoliosis |
| Q76.5 | Cervical rib |
| Q76.6 | Other congenital malformations of ribs |
| Q76.7 | Congenital malformation of sternum |
| Q76.8 | Other congenital malformations of bony thorax |
| Q76.9 | Congenital malformation of bony thorax, unspecified |
| Q77 | Osteochondrodysplasia with defects of growth of tubular bones and spine |
| Q77.0 | Achondrogenesis |
| Q77.1 | Thanatophoric short stature |
| Q77.2 | Short rib syndrome |
| Q77.3 | Chondrodysplasia punctata |
| Q77.4 | Achondroplasia |
| Q77.5 | Diastrophic dysplasia |
| Q77.6 | Chondroectodermal dysplasia |
| Q77.7 | Spondyloepiphyseal dysplasia |
| Q77.8 | Other osteochondrodysplasia with defects of growth of tubular bones and spine |
| Q77.9 | Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified |
| Q78 | Other osteochondrodysplasias |
| Q78.0 | Osteogenesis imperfecta |
| Q78.1 | Polyostotic fibrous dysplasia |
| Q78.2 | Osteopetrosis |
| Q78.3 | Progressive diaphyseal dysplasia |
| Q78.4 | Enchondromatosis |
| Q78.5 | Metaphyseal dysplasia |
| Q78.6 | Multiple congenital exostoses |
| Q78.8 | Other specified osteochondrodysplasias |
| Q78.9 | Osteochondrodysplasia, unspecified |
| Q79 | Congenital malformations of musculoskeletal system, not elsewhere classified |
| Q79.0 | Congenital diaphragmatic hernia |
| Q79.1 | Other congenital malformations of diaphragm |
| Q79.2 | Exomphalos |
| Q79.3 | Gastroschisis |
| Q79.4 | Prune belly syndrome |
| Q79.5 | Other congenital malformations of abdominal wall |
| Q79.51 | Congenital hernia of bladder |
| Q79.59 | Other congenital malformations of abdominal wall |
| Q79.6 | Ehlers-Danlos syndrome |
| Q79.8 | Other congenital malformations of musculoskeletal system |
| Q79.9 | Congenital malformation of musculoskeletal system, unspecified |
| Q80 | Congenital ichthyosis |
| Q80.0 | Ichthyosis vulgaris |
| Q80.1 | X-linked ichthyosis |
| Q80.2 | Lamellar ichthyosis |
| Q80.3 | Congenital bullous ichthyosiform erythroderma |
| Q80.4 | Harlequin fetus |
| Q80.8 | Other congenital ichthyosis |
| Q80.9 | Congenital ichthyosis, unspecified |
| Q81 | Epidermolysis bullosa |
| Q81.0 | Epidermolysis bullosa simplex |
| Q81.1 | Epidermolysis bullosa letalis |
| Q81.2 | Epidermolysis bullosa dystrophica |
| Q81.8 | Other epidermolysis bullosa |
| Q81.9 | Epidermolysis bullosa, unspecified |
| Q82 | Other congenital malformations of skin |
| Q82.0 | Hereditary lymphedema |
| Q82.1 | Xeroderma pigmentosum |
| Q82.2 | Mastocytosis |
| Q82.3 | Incontinentia pigmenti |
| Q82.4 | Ectodermal dysplasia (anhidrotic) |
| Q82.5 | Congenital non-neoplastic nevus |
| Q82.8 | Other specified congenital malformations of skin |
| Q82.9 | Congenital malformation of skin, unspecified |
| Q83 | Congenital malformations of breast |
| Q83.0 | Congenital absence of breast with absent nipple |
| Q83.1 | Accessory breast |
| Q83.2 | Absent nipple |
| Q83.3 | Accessory nipple |
| Q83.8 | Other congenital malformations of breast |
| Q83.9 | Congenital malformation of breast, unspecified |
| Q84 | Other congenital malformations of integument |
| Q84.0 | Congenital alopecia |
| Q84.1 | Congenital morphological disturbances of hair, not elsewhere classified |
| Q84.2 | Other congenital malformations of hair |
| Q84.3 | Anonychia |
| Q84.4 | Congenital leukonychia |
| Q84.5 | Enlarged and hypertrophic nails |
| Q84.6 | Other congenital malformations of nails |
| Q84.8 | Other specified congenital malformations of integument |
| Q84.9 | Congenital malformation of integument, unspecified |
| Q85 | Phakomatoses, not elsewhere classified |
| Q85.0 | Neurofibromatosis (nonmalignant) |
| Q85.00 | Neurofibromatosis, unspecified |
| Q85.01 | Neurofibromatosis, type 1 |
| Q85.02 | Neurofibromatosis, type 2 |
| Q85.03 | Schwannomatosis |
| Q85.09 | Other neurofibromatosis |
| Q85.1 | Tuberous sclerosis |
| Q85.8 | Other phakomatoses, not elsewhere classified |
| Q85.9 | Phakomatosis, unspecified |
| Q86 | Congenital malformation syndromes due to known exogenous causes, not elsewhere classified |
| Q86.0 | Fetal alcohol syndrome (dysmorphic) |
| Q86.1 | Fetal hydantoin syndrome |
| Q86.2 | Dysmorphism due to warfarin |
| Q86.8 | Other congenital malformation syndromes due to known exogenous causes |
| Q87 | Other specified congenital malformation syndromes affecting multiple systems |
| Q87.0 | Congenital malformation syndromes predominantly affecting facial appearance |
| Q87.1 | Congenital malformation syndromes predominantly associated with short stature |
| Q87.2 | Congenital malformation syndromes predominantly involving limbs |
| Q87.3 | Congenital malformation syndromes involving early overgrowth |
| Q87.4 | Marfan's syndrome |
| Q87.40 | Marfan's syndrome, unspecified |
| Q87.41 | Marfan's syndrome with cardiovascular manifestations |
| Q87.410 | Marfan's syndrome with aortic dilation |
| Q87.418 | Marfan's syndrome with other cardiovascular manifestations |
| Q87.42 | Marfan's syndrome with ocular manifestations |
| Q87.43 | Marfan's syndrome with skeletal manifestation |
| Q87.5 | Other congenital malformation syndromes with other skeletal changes |
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| Q87.81 | Alport syndrome |
| Q87.89 | Other specified congenital malformation syndromes, not elsewhere classified |
| Q89 | Other congenital malformations, not elsewhere classified |
| Q89.0 | Congenital absence and malformations of spleen |
| Q89.01 | Asplenia (congenital) |
| Q89.09 | Congenital malformations of spleen |
| Q89.1 | Congenital malformations of adrenal gland |
| Q89.2 | Congenital malformations of other endocrine glands |
| Q89.3 | Situs inversus |
| Q89.4 | Conjoined twins |
| Q89.7 | Multiple congenital malformations, not elsewhere classified |
| Q89.8 | Other specified congenital malformations |
| Q89.9 | Congenital malformation, unspecified |
| Q90 | Down syndrome |
| Q90.0 | Trisomy 21, nonmosaicism (meiotic nondisjunction) |
| Q90.1 | Trisomy 21, mosaicism (mitotic nondisjunction) |
| Q90.2 | Trisomy 21, translocation |
| Q90.9 | Down syndrome, unspecified |
| Q91 | Trisomy 18 and Trisomy 13 |
| Q91.0 | Trisomy 18, nonmosaicism (meiotic nondisjunction) |
| Q91.1 | Trisomy 18, mosaicism (mitotic nondisjunction) |
| Q91.2 | Trisomy 18, translocation |
| Q91.3 | Trisomy 18, unspecified |
| Q91.4 | Trisomy 13, nonmosaicism (meiotic nondisjunction) |
| Q91.5 | Trisomy 13, mosaicism (mitotic nondisjunction) |
| Q91.6 | Trisomy 13, translocation |
| Q91.7 | Trisomy 13, unspecified |
| Q92 | Other trisomies and partial trisomies of the autosomes, not elsewhere classified |
| Q92.0 | Whole chromosome trisomy, nonmosaicism (meiotic nondisjunction) |
| Q92.1 | Whole chromosome trisomy, mosaicism (mitotic nondisjunction) |
| Q92.2 | Partial trisomy |
| Q92.5 | Duplications with other complex rearrangements |
| Q92.6 | Marker chromosomes |
| Q92.61 | Marker chromosomes in normal individual |
| Q92.62 | Marker chromosomes in abnormal individual |
| Q92.7 | Triploidy and polyploidy |
| Q92.8 | Other specified trisomies and partial trisomies of autosomes |
| Q92.9 | Trisomy and partial trisomy of autosomes, unspecified |
| Q93 | Monosomies and deletions from the autosomes, not elsewhere classified |
| Q93.0 | Whole chromosome monosomy, nonmosaicism (meiotic nondisjunction) |
| Q93.1 | Whole chromosome monosomy, mosaicism (mitotic nondisjunction) |
| Q93.2 | Chromosome replaced with ring, dicentric or isochromosome |
| Q93.3 | Deletion of short arm of chromosome 4 |
| Q93.4 | Deletion of short arm of chromosome 5 |
| Q93.5 | Other deletions of part of a chromosome |
| Q93.7 | Deletions with other complex rearrangements |
| Q93.8 | Other deletions from the autosomes |
| Q93.81 | Velo-cardio-facial syndrome |
| Q93.88 | Other microdeletions |
| Q93.89 | Other deletions from the autosomes |
| Q93.9 | Deletion from autosomes, unspecified |
| Q95 | Balanced rearrangements and structural markers, not elsewhere classified |
| Q95.0 | Balanced translocation and insertion in normal individual |
| Q95.1 | Chromosome inversion in normal individual |
| Q95.2 | Balanced autosomal rearrangement in abnormal individual |
| Q95.3 | Balanced sex/autosomal rearrangement in abnormal individual |
| Q95.5 | Individual with autosomal fragile site |
| Q95.8 | Other balanced rearrangements and structural markers |
| Q95.9 | Balanced rearrangement and structural marker, unspecified |
| Q96 | Turner's syndrome |
| Q96.0 | Karyotype 45, X |
| Q96.1 | Karyotype 46, X iso (Xq) |
| Q96.2 | Karyotype 46, X with abnormal sex chromosome, except iso (Xq) |
| Q96.3 | Mosaicism, 45, X/46, XX or XY |
| Q96.4 | Mosaicism, 45, X/other cell line(s) with abnormal sex chromosome |
| Q96.8 | Other variants of Turner's syndrome |
| Q96.9 | Turner's syndrome, unspecified |
| Q97 | Other sex chromosome abnormalities, female phenotype, not elsewhere classified |
| Q97.0 | Karyotype 47, XXX |
| Q97.1 | Female with more than three X chromosomes |
| Q97.2 | Mosaicism, lines with various numbers of X chromosomes |
| Q97.3 | Female with 46, XY karyotype |
| Q97.8 | Other specified sex chromosome abnormalities, female phenotype |
| Q97.9 | Sex chromosome abnormality, female phenotype, unspecified |
| Q98 | Other sex chromosome abnormalities, male phenotype, not elsewhere classified |
| Q98.0 | Klinefelter syndrome karyotype 47, XXY |
| Q98.1 | Klinefelter syndrome, male with more than two X chromosomes |
| Q98.3 | Other male with 46, XX karyotype |
| Q98.4 | Klinefelter syndrome, unspecified |
| Q98.5 | Karyotype 47, XYY |
| Q98.6 | Male with structurally abnormal sex chromosome |
| Q98.7 | Male with sex chromosome mosaicism |
| Q98.8 | Other specified sex chromosome abnormalities, male phenotype |
| Q98.9 | Sex chromosome abnormality, male phenotype, unspecified |
| Q99 | Other chromosome abnormalities, not elsewhere classified |
| Q99.0 | Chimera 46, XX/46, XY |
| Q99.1 | 46, XX true hermaphrodite |
| Q99.2 | Fragile X chromosome |
| Q99.8 | Other specified chromosome abnormalities |
| Q99.9 | Chromosomal abnormality, unspecified |