ICD-10 Chapter Q

# Q00-Q89 - Congenital malformations and deformations

## (Q00-Q07) nervous system
- (Q00) Anencephaly and similar malformations
(Q00.0) Anencephaly
Acephaly
Acrania
Amyelencephaly
Hemianencephaly
Hemicephaly
(Q00.1) Craniorachischisis
(Q00.2) Iniencephaly
- (Q00.0) Anencephaly
Acephaly
Acrania
Amyelencephaly
Hemianencephaly
Hemicephaly
- Acephaly
- Acrania
- Amyelencephaly
- Hemianencephaly
- Hemicephaly
- (Q00.1) Craniorachischisis
- (Q00.2) Iniencephaly
- (Q01) Encephalocele
- (Q02) Microcephaly
- (Q03) Congenital hydrocephalus
(Q03.0) Malformations of aqueduct of Sylvius
(Q03.1) Atresia of foramina of Magendie and Luschka
Dandy-Walker syndrome
(Q03.8) Other congenital hydrocephalus
(Q03.9) Congenital hydrocephalus, unspecified
- (Q03.0) Malformations of aqueduct of Sylvius
- (Q03.1) Atresia of foramina of Magendie and Luschka
Dandy-Walker syndrome
- Dandy-Walker syndrome
- (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
Agyria and Lissencephaly (EUROCAT Q04.33)
Microgyria and Pachygyria (EUROCAT Q04.34)
Hydranencephaly (EUROCAT Q04.35)
(Q04.4) Septo-optic dysplasia
(Q04.5) Megalencephaly
(Q04.6) Congenital cerebral cysts
Porencephaly
Schizencephaly
(Q04.8) Other specified congenital malformations of brain
(Q04.9) Congenital malformation of brain, unspecified
- (Q04.0) Congenital malformations of corpus callosum
- (Q04.1) Arhinencephaly
- (Q04.2) Holoprosencephaly
- (Q04.3) Other reduction deformities of brain
Agyria and Lissencephaly (EUROCAT Q04.33)
Microgyria and Pachygyria (EUROCAT Q04.34)
Hydranencephaly (EUROCAT Q04.35)
- Agyria and Lissencephaly (EUROCAT Q04.33)
- Microgyria and Pachygyria (EUROCAT Q04.34)
- Hydranencephaly (EUROCAT Q04.35)
- (Q04.4) Septo-optic dysplasia
- (Q04.5) Megalencephaly
- (Q04.6) Congenital cerebral cysts
Porencephaly
Schizencephaly
- Porencephaly
- Schizencephaly
- (Q04.8) Other specified congenital malformations of brain
- (Q04.9) Congenital malformation of brain, unspecified
- (Q05) Spina bifida
hydromeningocele (spinal)
meningocele(spinal)
meningomyelocele
myelocele
myelomeningocele
rachischisis
syringomyelocele
- hydromeningocele (spinal)
meningocele(spinal)
meningomyelocele
myelocele
myelomeningocele
rachischisis
syringomyelocele
- hydromeningocele (spinal)
- meningocele(spinal)
- meningomyelocele
- myelocele
- myelomeningocele
- rachischisis
- syringomyelocele
- (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
- (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
(Q07.8) Other specified congenital malformations of nervous system
(Q07.9) Congenital malformation of nervous system, unspecified
- (Q07.0) Arnold-Chiari syndrome
- (Q07.8) Other specified congenital malformations of nervous system
- (Q07.9) Congenital malformation of nervous system, unspecified

## (Q10-Q18) eye, ear, face and neck
- (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
Ablepharon
Blepharophimosis, congenital
Coloboma 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
- (Q10.0) Congenital ptosis
- (Q10.1) Congenital ectropion
- (Q10.2) Congenital entropion
- (Q10.3) Other congenital malformations of eyelid
Ablepharon
Blepharophimosis, congenital
Coloboma of eyelid
- Ablepharon
- Blepharophimosis, congenital
- Coloboma 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
- (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
- (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
Aniridia
(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
(Q13.9) Congenital malformation of anterior segment of eye, unspecified
- (Q13.0) Coloboma of iris
- (Q13.1) Absence of iris
Aniridia
- Aniridia
- (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
- (Q13.9) Congenital malformation of anterior segment of eye, unspecified
- (Q14) Congenital malformations of posterior segment of eye
(Q14.0) Congenital malformation of vitreous humour
(Q14.1) Congenital malformation of retina
(Q14.2) Congenital malformation of optic disc
Coloboma of optic disc
(Q14.3) Congenital malformation of choroid
(Q14.8) Other congenital malformations of posterior segment of eye
Coloboma of the fundus
(Q14.9) Congenital malformation of posterior segment of eye, unspecified
- (Q14.0) Congenital malformation of vitreous humour
- (Q14.1) Congenital malformation of retina
- (Q14.2) Congenital malformation of optic disc
Coloboma of optic disc
- Coloboma of optic disc
- (Q14.3) Congenital malformation of choroid
- (Q14.8) Other congenital malformations of posterior segment of eye
Coloboma of the fundus
- Coloboma of the fundus
- (Q14.9) Congenital malformation of posterior segment of eye, unspecified
- (Q15) Other congenital malformations of eye
(Q15.0) Congenital glaucoma
Buphthalmos
Glaucoma of newborn
Hydrophthalmos
Keratoglobus, congenital, with glaucoma
Macrocornea with glaucoma
Macrophthalmos in congenital glaucoma
Megalocornea with glaucoma
- (Q15.0) Congenital glaucoma
Buphthalmos
Glaucoma of newborn
Hydrophthalmos
Keratoglobus, congenital, with glaucoma
Macrocornea with glaucoma
Macrophthalmos in congenital glaucoma
Megalocornea with glaucoma
- Buphthalmos
- Glaucoma of newborn
- Hydrophthalmos
- Keratoglobus, congenital, with glaucoma
- Macrocornea with glaucoma
- Macrophthalmos in congenital glaucoma
- Megalocornea with glaucoma
- (Q16) Congenital malformations of ear causing impairment of hearing
- (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
- (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
Otocephaly
(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
- (Q18.0) Sinus, fistula and cyst of branchial cleft
- (Q18.1) Preauricular sinus and cyst
- (Q18.2) Other branchial cleft malformations
Otocephaly
- Otocephaly
- (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-Q28) circulatory system
- (Q20) Congenital malformations of cardiac chambers and connections
(Q20.0) Common arterial trunk
Persistent truncus arteriosus
(Q20.1) Double outlet right ventricle
Taussig-Bing syndrome
(Q20.2) Double outlet left ventricle
(Q20.3) Discordant ventriculoarterial connection
Dextrotransposition of aorta
Transposition of great vessels (complete)
(Q20.4) Double inlet ventricle
(Q20.5) Discordant atrioventricular connection
Corrected transposition
(Q20.6) Isomerism of atrial appendages
- (Q20.0) Common arterial trunk
Persistent truncus arteriosus
- Persistent truncus arteriosus
- (Q20.1) Double outlet right ventricle
Taussig-Bing syndrome
- Taussig-Bing syndrome
- (Q20.2) Double outlet left ventricle
- (Q20.3) Discordant ventriculoarterial connection
Dextrotransposition of aorta
Transposition of great vessels (complete)
- Dextrotransposition of aorta
- Transposition of great vessels (complete)
- (Q20.4) Double inlet ventricle
- (Q20.5) Discordant atrioventricular connection
Corrected transposition
- Corrected transposition
- (Q20.6) Isomerism of atrial appendages
- (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
(Q21.8) Other congenital malformations of cardiac septa
Eisenmenger's syndrome
- (Q21.0) Ventricular septal defect
- (Q21.1) Atrial septal defect
- (Q21.2) Atrioventricular septal defect
- (Q21.3) Tetralogy of Fallot
- (Q21.8) Other congenital malformations of cardiac septa
Eisenmenger's syndrome
- Eisenmenger's syndrome
- (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
Tricuspid atresia
(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
- (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
Tricuspid atresia
- Tricuspid atresia
- (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
- (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) Laevocardia
(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
- (Q24.0) Dextrocardia
- (Q24.1) Laevocardia
- (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) Stenosis of aorta
(Q25.4) Other congenital malformations of aorta
Overriding aorta (EUROCAT Q25.42)
Aneurysm of sinus of Valsalva (ruptured) (EUROCAT Q25.43)
Double aortic arch (vascular ring of aorta)
(Q25.5) Atresia of pulmonary artery
(Q25.6) Stenosis of pulmonary artery
(Q25.7) Other congenital malformations of pulmonary artery
- (Q25.0) Patent ductus arteriosus
- (Q25.1) Coarctation of aorta
- (Q25.2) Atresia of aorta
- (Q25.3) Stenosis of aorta
- (Q25.4) Other congenital malformations of aorta
Overriding aorta (EUROCAT Q25.42)
Aneurysm of sinus of Valsalva (ruptured) (EUROCAT Q25.43)
Double aortic arch (vascular ring of aorta)
- Overriding aorta (EUROCAT Q25.42)
- Aneurysm of sinus of Valsalva (ruptured) (EUROCAT Q25.43)
- Double aortic arch (vascular ring of aorta)
- (Q25.5) Atresia of pulmonary artery
- (Q25.6) Stenosis of pulmonary artery
- (Q25.7) Other congenital malformations of pulmonary artery
- (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
Scimitar syndrome
(Q26.9) Congenital malformation of great vein, unspecified
- (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
Scimitar syndrome
- Scimitar syndrome
- (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) Peripheral arteriovenous malformation
(Q27.4) Congenital phlebectasia
(Q27.8) Other specified congenital malformations of peripheral vascular system
(Q27.9) Congenital malformation of peripheral vascular system, unspecified
- (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) Peripheral arteriovenous malformation
- (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
- (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-Q34) respiratory system
- (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
- (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
- (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
- (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) Hypoplasia and dysplasia of lung
(Q33.8) Other congenital malformations of lung
(Q33.9) Congenital malformation of lung, unspecified
- (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) 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
- (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-Q45) digestive system
- (Q35) Cleft palate
- (Q36) Cleft lip
- (Q37) Cleft palate with cleft lip
- (Q38) Other congenital malformations of tongue, mouth and pharynx
(Q38.0) Congenital malformations of lips, not elsewhere classified
Van der Woude's syndrome
(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) Pharyngeal pouch
- (Q38.0) Congenital malformations of lips, not elsewhere classified
Van der Woude's syndrome
- Van der Woude's syndrome
- (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) Pharyngeal pouch
- (Q39) Congenital malformations of oesophagus
(Q39.0) Atresia of oesophagus without fistula
(Q39.1) Atresia of oesophagus with tracheo-oesophageal fistula
(Q39.2) Congenital tracheo-oesophageal fistula without atresia
(Q39.3) Congenital stenosis and stricture of oesophagus
(Q39.4) Oesophageal web
(Q39.5) Congenital dilatation of oesophagus
(Q39.6) Diverticulum of oesophagus
(Q39.8) Other congenital malformations of oesophagus
(Q39.9) Congenital malformation of oesophagus, unspecified
- (Q39.0) Atresia of oesophagus without fistula
- (Q39.1) Atresia of oesophagus with tracheo-oesophageal fistula
- (Q39.2) Congenital tracheo-oesophageal fistula without atresia
- (Q39.3) Congenital stenosis and stricture of oesophagus
- (Q39.4) Oesophageal web
- (Q39.5) Congenital dilatation of oesophagus
- (Q39.6) Diverticulum of oesophagus
- (Q39.8) Other congenital malformations of oesophagus
- (Q39.9) Congenital malformation of oesophagus, unspecified
- (Q40) Other congenital malformations of upper alimentary tract
(Q40.0) Congenital hypertrophic pyloric stenosis
(Q40.1) Congenital hiatus hernia
- (Q40.0) Congenital hypertrophic pyloric stenosis
- (Q40.1) Congenital hiatus hernia
- (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
- (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
Imperforate rectum
(Q42.2) Congenital absence, atresia and stenosis of anus with fistula
(Q42.3) Congenital absence, atresia and stenosis of anus without fistula
Imperforate anus
(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
- (Q42.0) Congenital absence, atresia and stenosis of rectum with fistula
- (Q42.1) Congenital absence, atresia and stenosis of rectum without fistula
Imperforate rectum
- Imperforate rectum
- (Q42.2) Congenital absence, atresia and stenosis of anus with fistula
- (Q42.3) Congenital absence, atresia and stenosis of anus without fistula
Imperforate anus
- Imperforate anus
- (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
(Q43.1) Hirschsprung's disease
(Q43.2) Other congenital functional disorders of colon
(Q43.3) Congenital malformations of intestinal fixation
Malrotation of colon
(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
- (Q43.0) Meckel's diverticulum
- (Q43.1) Hirschsprung's disease
- (Q43.2) Other congenital functional disorders of colon
- (Q43.3) Congenital malformations of intestinal fixation
Malrotation of colon
- Malrotation of colon
- (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
- (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
Accessory liver
Alagille's syndrome
- (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
Accessory liver
Alagille's syndrome
- Accessory liver
- Alagille's syndrome
- (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
Accessory pancreas
(Q45.8) Other specified congenital malformations of digestive system
(Q45.9) Congenital malformation of digestive system, unspecified]]
- (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
Accessory pancreas
- Accessory pancreas
- (Q45.8) Other specified congenital malformations of digestive system
- (Q45.9) Congenital malformation of digestive system, unspecified]]

## (Q50-Q56) genital organs
- (Q50) Congenital malformations of ovaries, fallopian tubes and broad ligaments
- (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
(Q51.2) 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
(Q51.9) Congenital malformation of uterus and cervix, unspecified
- (Q51.0) Agenesis and aplasia of uterus
- (Q51.1) Doubling of uterus with doubling of cervix and vagina
- (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
- (Q51.9) 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
(Q52.2) 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 congenital malformations of vulva
(Q52.8) Other specified congenital malformations of female genitalia
(Q52.9) Congenital malformation of female genitalia, unspecified
- (Q52.0) Congenital absence of vagina
- (Q52.1) Doubling of vagina
- (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 congenital malformations of vulva
- (Q52.8) Other specified congenital malformations of female genitalia
- (Q52.9) Congenital malformation of female genitalia, unspecified
- (Q53) Undescended testicle
- (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
- (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
Monorchism
(Q55.1) Hypoplasia of testis and scrotum
(Q55.2) 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
(Q55.8) Other specified congenital malformations of male genital organs
(Q55.9) Congenital malformation of male genital organ, unspecified
- (Q55.0) Absence and aplasia of testis
Monorchism
- Monorchism
- (Q55.1) Hypoplasia of testis and scrotum
- (Q55.2) 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
- (Q55.8) 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
- (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-Q64) urinary system
- (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
(Q60.6) Renal hypoplasia, unspecified
(Q60.7) Potter's syndrome
- (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
- (Q60.6) Renal hypoplasia, unspecified
- (Q60.7) Potter's syndrome
- (Q61) Cystic kidney disease
(Q61.0) Congenital single renal cyst
(Q61.1) Polycystic kidney, autosomal recessive
(Q61.2) Polycystic kidney, autosomal dominant
(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
Meckel-Gruber syndrome
- (Q61.0) Congenital single renal cyst
- (Q61.1) Polycystic kidney, autosomal recessive
- (Q61.2) Polycystic kidney, autosomal dominant
- (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
Meckel-Gruber syndrome
- Meckel-Gruber syndrome
- (Q62) Congenital obstructive defects of renal pelvis and congenital malformations of ureter
(Q62.0) Congenital hydronephrosis
(Q62.1) Atresia and stenosis of ureter
(Q62.2) Congenital megaloureter
(Q62.3) Other obstructive defects of renal pelvis and ureter
(Q62.4) Agenesis of ureter
(Q62.5) Duplication of ureter
(Q62.6) Malposition of ureter
(Q62.7) Congenital vesico-uretero-renal reflux
(Q62.8) Other congenital malformations of ureter
- (Q62.0) Congenital hydronephrosis
- (Q62.1) Atresia and stenosis of ureter
- (Q62.2) Congenital megaloureter
- (Q62.3) Other obstructive defects of renal pelvis and ureter
- (Q62.4) Agenesis of ureter
- (Q62.5) Duplication of ureter
- (Q62.6) 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
- (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
(Q64.2) Congenital posterior urethral valves
(Q64.3) Other atresia and stenosis of urethra and bladder neck
(Q64.4) Malformation of urachus
Cyst of urachus
Patent urachus
Prolapse of urachus
(Q64.5) Congenital absence of bladder and urethra
(Q64.6) Congenital diverticulum of bladder
(Q64.7) Other congenital malformations of bladder and urethra
(Q64.8) Other specified congenital malformations of urinary system
(Q64.9) Congenital malformation of urinary system, unspecified
- (Q64.0) Epispadias
- (Q64.1) Exstrophy of urinary bladder
- (Q64.2) Congenital posterior urethral valves
- (Q64.3) Other atresia and stenosis of urethra and bladder neck
- (Q64.4) Malformation of urachus
Cyst of urachus
Patent urachus
Prolapse of urachus
- Cyst of urachus
- Patent urachus
- Prolapse of urachus
- (Q64.5) Congenital absence of bladder and urethra
- (Q64.6) Congenital diverticulum of bladder
- (Q64.7) 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-Q79) musculoskeletal system
- (Q65) Congenital deformities of hip
(Q65.0) Congenital dislocation of hip, unilateral
(Q65.1) Congenital dislocation of hip, bilateral
(Q65.2) Congenital dislocation of hip, unspecified
(Q65.3) Congenital subluxation of hip, unilateral
(Q65.4) Congenital subluxation of hip, bilateral
(Q65.5) Congenital subluxation of hip, unspecified
(Q65.6) Unstable hip
(Q65.8) Other congenital deformities of hip
(Q65.9) Congenital deformity of hip, unspecified
- (Q65.0) Congenital dislocation of hip, unilateral
- (Q65.1) Congenital dislocation of hip, bilateral
- (Q65.2) Congenital dislocation of hip, unspecified
- (Q65.3) Congenital subluxation of hip, unilateral
- (Q65.4) Congenital subluxation of hip, bilateral
- (Q65.5) Congenital subluxation of hip, unspecified
- (Q65.6) Unstable hip
- (Q65.8) Other congenital deformities of hip
- (Q65.9) Congenital deformity of hip, unspecified
- (Q66) Congenital deformities of feet
(Q66.0) Talipes equinovarus
(Q66.1) Talipes calcaneovarus
(Q66.2) Metatarsus varus
(Q66.3) Other congenital varus deformities of feet
(Q66.4) Talipes calcaneovalgus
(Q66.5) Congenital pes planus
(Q66.6) Other congenital valgus deformities of feet
(Q66.7) Pes cavus
(Q66.8) Other congenital deformities of feet
(Q66.9) Congenital deformity of feet, unspecified
- (Q66.0) Talipes equinovarus
- (Q66.1) Talipes calcaneovarus
- (Q66.2) Metatarsus varus
- (Q66.3) Other congenital varus deformities of feet
- (Q66.4) Talipes calcaneovalgus
- (Q66.5) Congenital pes planus
- (Q66.6) Other congenital valgus deformities of feet
- (Q66.7) Pes cavus
- (Q66.8) Other congenital deformities of feet
- (Q66.9) Congenital deformity of feet, unspecified
- (Q67) Congenital musculoskeletal deformities of head, face, spine and chest
(Q67.0) Facial asymmetry
(Q67.1) 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
- (Q67.0) Facial asymmetry
- (Q67.1) 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 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
(Q68.8) Other specified congenital musculoskeletal deformities
- (Q68.0) Congenital deformity of sternocleidomastoid muscle
- (Q68.1) Congenital deformity of 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
- (Q68.8) 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
- (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
(Q70.1) Webbed fingers
(Q70.2) Fused toes
(Q70.3) Webbed toes
(Q70.4) Polysyndactyly
(Q70.9) Syndactyly, unspecified
- (Q70.0) Fused fingers
- (Q70.1) Webbed fingers
- (Q70.2) Fused toes
- (Q70.3) Webbed toes
- (Q70.4) Polysyndactyly
- (Q70.9) Syndactyly, unspecified
- (Q71) Reduction defects of upper limb
(Q71.0) Congenital complete absence of upper limb(s)
(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(s)
(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(s)
(Q71.9) Reduction defect of upper limb, unspecified
- (Q71.0) Congenital complete absence of upper limb(s)
- (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(s)
- (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(s)
- (Q71.9) Reduction defect of upper limb, unspecified
- (Q72) Reduction defects of lower limb
(Q72.0) Congenital complete absence of lower limb(s)
(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(s)
(Q72.9) Reduction defect of lower limb, unspecified
- (Q72.0) Congenital complete absence of lower limb(s)
- (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(s)
- (Q72.9) Reduction defect of lower limb, unspecified
- (Q73) Reduction defects of unspecified limb
(Q73.0) Congenital absence of unspecified limb(s)
Amelia NOS
(Q73.1) Phocomelia, unspecified limb(s)
(Q73.8) Other reduction defects of unspecified limb(s)
- (Q73.0) Congenital absence of unspecified limb(s)
Amelia NOS
- Amelia NOS
- (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
Accessory carpal bones
Cleidocranial dysostosis
Congenital pseudarthrosis of clavicle
Macrodactylia (fingers)
Madelung's deformity
Radioulnar synostosis
Sprengel's deformity
Triphalangeal thumb
(Q74.1) Congenital malformation of knee
genu valgum
genu varum
(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)
- (Q74.0) Other congenital malformations of upper limb(s), including shoulder girdle
Accessory carpal bones
Cleidocranial dysostosis
Congenital pseudarthrosis of clavicle
Macrodactylia (fingers)
Madelung's deformity
Radioulnar synostosis
Sprengel's deformity
Triphalangeal thumb
- Accessory carpal bones
- Cleidocranial dysostosis
- Congenital pseudarthrosis of clavicle
- Macrodactylia (fingers)
- Madelung's deformity
- Radioulnar synostosis
- Sprengel's deformity
- Triphalangeal thumb
- (Q74.1) Congenital malformation of knee
genu valgum
genu varum
- genu valgum
- genu varum
- (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
Franceschetti syndrome
Treacher-Collins syndrome
(Q75.5) Oculomandibular dysostosis
(Q75.8) Other specified congenital malformations of skull and face bones
Absence of skull bone, congenital
Congenital deformity of forehead
Platybasia
(Q75.9) Congenital malformation of skull and face bones, unspecified
- (Q75.0) Craniosynostosis
- (Q75.1) Craniofacial dysostosis
- (Q75.2) Hypertelorism
- (Q75.3) Macrocephaly
- (Q75.4) Mandibulofacial dysostosis
Franceschetti syndrome
Treacher-Collins syndrome
- Franceschetti syndrome
- Treacher-Collins syndrome
- (Q75.5) Oculomandibular dysostosis
- (Q75.8) Other specified congenital malformations of skull and face bones
Absence of skull bone, congenital
Congenital deformity of forehead
Platybasia
- Absence of skull bone, congenital
- Congenital deformity of forehead
- Platybasia
- (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
(Q76.5) Cervical rib
(Q76.6) Other congenital malformations of ribs
(Q76.7) Congenital malformation of sternum
Congenital absence of sternum
Sternum bifidum
(Q76.8) Other congenital malformations of bony thorax
(Q76.9) Congenital malformation of bony thorax, unspecified
- (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
- (Q76.5) Cervical rib
- (Q76.6) Other congenital malformations of ribs
- (Q76.7) Congenital malformation of sternum
Congenital absence of sternum
Sternum bifidum
- Congenital absence of sternum
- Sternum bifidum
- (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
Hypochondrogenesis
(Q77.1) Thanatophoric short stature
(Q77.2) Short rib syndrome
Asphyxiating thoracic dysplasia (Jeune)
(Q77.3) Chondrodysplasia punctata
(Q77.4) Achondroplasia
Hypochondroplasia
Osteosclerosis congenita
(Q77.5) Dystrophic dysplasia
(Q77.6) Chondroectodermal dysplasia
Ellis-van Creveld syndrome
(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
- (Q77.0) Achondrogenesis
Hypochondrogenesis
- Hypochondrogenesis
- (Q77.1) Thanatophoric short stature
- (Q77.2) Short rib syndrome
Asphyxiating thoracic dysplasia (Jeune)
- Asphyxiating thoracic dysplasia (Jeune)
- (Q77.3) Chondrodysplasia punctata
- (Q77.4) Achondroplasia
Hypochondroplasia
Osteosclerosis congenita
- Hypochondroplasia
- Osteosclerosis congenita
- (Q77.5) Dystrophic dysplasia
- (Q77.6) Chondroectodermal dysplasia
Ellis-van Creveld syndrome
- Ellis-van Creveld syndrome
- (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
Fragilitas ossium
Osteopsathyrosis
(Q78.1) Polyostotic fibrous dysplasia
Albright(-McCune)(-Sternberg) syndrome
(Q78.2) Osteopetrosis
Albers-Schonberg syndrome
(Q78.3) Progressive diaphyseal dysplasia
Camurati-Engelmann syndrome
(Q78.4) Enchondromatosis
Maffucci's syndrome
Ollier's disease
(Q78.5) Metaphyseal dysplasia
Pyle's syndrome
(Q78.6) Multiple congenital exostoses
Diaphyseal aclasis
(Q78.8) Other specified osteochondrodysplasias
Osteopoikilosis
(Q78.9) Osteochondrodysplasia, unspecified
Chondrodystrophy NOS
Osteodystrophy NOS
- (Q78.0) Osteogenesis imperfecta
Fragilitas ossium
Osteopsathyrosis
- Fragilitas ossium
- Osteopsathyrosis
- (Q78.1) Polyostotic fibrous dysplasia
Albright(-McCune)(-Sternberg) syndrome
- Albright(-McCune)(-Sternberg) syndrome
- (Q78.2) Osteopetrosis
Albers-Schonberg syndrome
- Albers-Schonberg syndrome
- (Q78.3) Progressive diaphyseal dysplasia
Camurati-Engelmann syndrome
- Camurati-Engelmann syndrome
- (Q78.4) Enchondromatosis
Maffucci's syndrome
Ollier's disease
- Maffucci's syndrome
- Ollier's disease
- (Q78.5) Metaphyseal dysplasia
Pyle's syndrome
- Pyle's syndrome
- (Q78.6) Multiple congenital exostoses
Diaphyseal aclasis
- Diaphyseal aclasis
- (Q78.8) Other specified osteochondrodysplasias
Osteopoikilosis
- Osteopoikilosis
- (Q78.9) Osteochondrodysplasia, unspecified
Chondrodystrophy NOS
Osteodystrophy NOS
- Chondrodystrophy NOS
- Osteodystrophy NOS
- (Q79) Congenital malformations of the musculoskeletal system, not elsewhere classified
(Q79.0) Congenital diaphragmatic hernia
(Q79.1) Other congenital malformations of diaphragm
(Q79.2) Exomphalos
Omphalocele
(Q79.3) Gastroschisis
(Q79.4) Prune belly syndrome
(Q79.5) Other congenital malformations of abdominal wall
(Q79.6) Ehlers-Danlos syndrome
(Q79.8) Other congenital malformations of musculoskeletal system
Accessory muscle
Amyotrophia congenita
Poland's syndrome
(Q79.9) Congenital malformation of musculoskeletal system, unspecified
- (Q79.0) Congenital diaphragmatic hernia
- (Q79.1) Other congenital malformations of diaphragm
- (Q79.2) Exomphalos
Omphalocele
- Omphalocele
- (Q79.3) Gastroschisis
- (Q79.4) Prune belly syndrome
- (Q79.5) Other congenital malformations of abdominal wall
- (Q79.6) Ehlers-Danlos syndrome
- (Q79.8) Other congenital malformations of musculoskeletal system
Accessory muscle
Amyotrophia congenita
Poland's syndrome
- Accessory muscle
- Amyotrophia congenita
- Poland's syndrome
- (Q79.9) Congenital malformation of musculoskeletal system, unspecified

## (Q80-Q89) Other
- (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
- (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
- (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 lymphoedema
(Q82.1) Xeroderma pigmentosum
(Q82.2) Mastocytosis
Urticaria pigmentosa
(Q82.3) Incontinentia pigmenti
(Q82.4) Ectodermal dysplasia (anhidrotic)
(Q82.5) Congenital non-neoplastic naevus
Birthmark NOS
naevus flammeus / Port-wine stain
sanguineous naevus
strawberry naevus
vascular naevus NOS
verrucous naevus
(Q82.8) Other specified congenital malformations of skin
Abnormal palmar creases
Accessory skin tags
Benign familial pemphigus (Hailey-Hailey)
Cutis laxa (hyperelastica)
Dermatoglyphic anomalies
Inherited keratosis palmaris et plantaris
Keratosis follicularis (Darier-White) (ILDS Q82.868)
(Q82.9) Congenital malformation of skin, unspecified
- (Q82.0) Hereditary lymphoedema
- (Q82.1) Xeroderma pigmentosum
- (Q82.2) Mastocytosis
Urticaria pigmentosa
- Urticaria pigmentosa
- (Q82.3) Incontinentia pigmenti
- (Q82.4) Ectodermal dysplasia (anhidrotic)
- (Q82.5) Congenital non-neoplastic naevus
Birthmark NOS
naevus flammeus / Port-wine stain
sanguineous naevus
strawberry naevus
vascular naevus NOS
verrucous naevus
- Birthmark NOS
- naevus flammeus / Port-wine stain
- sanguineous naevus
- strawberry naevus
- vascular naevus NOS
- verrucous naevus
- (Q82.8) Other specified congenital malformations of skin
Abnormal palmar creases
Accessory skin tags
Benign familial pemphigus (Hailey-Hailey)
Cutis laxa (hyperelastica)
Dermatoglyphic anomalies
Inherited keratosis palmaris et plantaris
Keratosis follicularis (Darier-White) (ILDS Q82.868)
- Abnormal palmar creases
- Accessory skin tags
- Benign familial pemphigus (Hailey-Hailey)
- Cutis laxa (hyperelastica)
- Dermatoglyphic anomalies
- Inherited keratosis palmaris et plantaris
- Keratosis follicularis (Darier-White) (ILDS Q82.868)
- (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
Supernumerary nipple
(Q83.8) Other congenital malformations of breast
Hypoplasia of breast
(Q83.9) Congenital malformation of breast, unspecified
- (Q83.0) Congenital absence of breast with absent nipple
- (Q83.1) Accessory breast
- (Q83.2) Absent nipple
- (Q83.3) Accessory nipple
Supernumerary nipple
- Supernumerary nipple
- (Q83.8) Other congenital malformations of breast
Hypoplasia of breast
- Hypoplasia 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
Beaded hair
Monilethrix
Pili annulati
Trichothiodystrophy (ILDS Q84.169)
(Q84.2) Other congenital malformations of hair
(Q84.3) Anonychia
(Q84.4) Congenital leukonychia
(Q84.5) Enlarged and hypertrophic nails
Congenital onychauxis
Pachyonychia
(Q84.6) Other congenital malformations of nails
(Q84.8) Other specified congenital malformations of integument
(Q84.9) Congenital malformation of integument, unspecified
- (Q84.0) Congenital alopecia
- (Q84.1) Congenital morphological disturbances of hair, not elsewhere classified
Beaded hair
Monilethrix
Pili annulati
Trichothiodystrophy (ILDS Q84.169)
- Beaded hair
- Monilethrix
- Pili annulati
- Trichothiodystrophy (ILDS Q84.169)
- (Q84.2) Other congenital malformations of hair
- (Q84.3) Anonychia
- (Q84.4) Congenital leukonychia
- (Q84.5) Enlarged and hypertrophic nails
Congenital onychauxis
Pachyonychia
- Congenital onychauxis
- Pachyonychia
- (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)
Von Recklinghausen's disease (ILDS Q85.010)
Neurofibromatosis II (ILDS Q85.020)
Neurofibromatosis, segmental (ILDS Q85.030)
(Q85.1) Tuberous sclerosis
Bourneville's disease
(Q85.8) Other phakomatoses, not elsewhere classified
Sturge-Weber syndrome (EUROCAT Q85.81)
von Hippel-Lindau disease (EUROCAT Q85.82)
(Q85.9) Phakomatosis, unspecified
Hamartosis NOS
- (Q85.0) Neurofibromatosis (nonmalignant)
Von Recklinghausen's disease (ILDS Q85.010)
Neurofibromatosis II (ILDS Q85.020)
Neurofibromatosis, segmental (ILDS Q85.030)
- Von Recklinghausen's disease (ILDS Q85.010)
- Neurofibromatosis II (ILDS Q85.020)
- Neurofibromatosis, segmental (ILDS Q85.030)
- (Q85.1) Tuberous sclerosis
Bourneville's disease
- Bourneville's disease
- (Q85.8) Other phakomatoses, not elsewhere classified
Sturge-Weber syndrome (EUROCAT Q85.81)
von Hippel-Lindau disease (EUROCAT Q85.82)
- Sturge-Weber syndrome (EUROCAT Q85.81)
- von Hippel-Lindau disease (EUROCAT Q85.82)
- (Q85.9) Phakomatosis, unspecified
Hamartosis NOS
- Hamartosis NOS
- (Q86) Congenital malformation syndromes due to known exogenous causes, not elsewhere classified
(Q86.0) Fetal alcohol syndrome (dysmorphic)
- (Q86.0) Fetal alcohol syndrome (dysmorphic)
- (Q87) Other specified congenital malformation syndromes affecting multiple systems
(Q87.0) Congenital malformation syndromes predominantly affecting facial appearance
Acrocephalopolysyndactyly
Acrocephalosyndactyly (Apert)
Cryptophthalmos syndrome
Cyclopia
Goldenhar syndrome
Moebius syndrome
-ro-facial-digital syndrome
Robin syndrome
Whistling face
- (Q87.0) Congenital malformation syndromes predominantly affecting facial appearance
Acrocephalopolysyndactyly
Acrocephalosyndactyly (Apert)
Cryptophthalmos syndrome
Cyclopia
Goldenhar syndrome
Moebius syndrome
-ro-facial-digital syndrome
Robin syndrome
Whistling face
- Acrocephalopolysyndactyly
- Acrocephalosyndactyly (Apert)
- Cryptophthalmos syndrome
- Cyclopia
- Goldenhar syndrome
- Moebius syndrome
- oro-facial-digital syndrome
- Robin syndrome
- Whistling face
- (Q87.1) Congenital malformation syndromes predominantly associated with short stature
Aarskog syndrome
Cockayne syndrome (ILDS Q87.110)
De Lange syndrome (ILDS Q87.170)
Dubowitz syndrome
Noonan syndrome
Prader-Willi syndrome
Robinow-Silverman-Smith syndrome
Silver-Russell syndrome (ILDS Q87.114)
Seckel syndrome
Smith-Lemli-Opitz syndrome
Sjogren-Larsson syndrome (ILDS Q87.136)
(Q87.2) Congenital malformation syndromes predominantly involving limbs
Holt-Oram syndrome
Klippel-Trenaunay-Weber (EUROCAT Q87.21, ILDS Q87.210)
Nail-patella syndrome (ILDS Q87.230)
Rubinstein-Taybi syndrome (EUROCAT Q87.23)
sirenomelia
thrombocytopenia with absent radius syndrome
VATER syndrome
(Q87.3) Congenital malformation syndromes involving early overgrowth
Beckwith-Wiedemann syndrome
Sotos syndrome
Weaver syndrome
(Q87.4) Marfan's syndrome
(Q87.5) Other congenital malformation syndromes with other skeletal changes
(Q87.8) Other specified congenital malformation syndromes, not elsewhere classified
Alport syndrome (EUROCAT Q87.80)
Bardet-Biedl syndrome (EUROCAT Q87.81)
Zellweger's syndrome (EUROCAT Q87.83)
William's syndrome  (EUROCAT Q87.84)
Angelman's syndrome (Happy puppet syndrome)  (EUROCAT Q87.85)
- (Q87.1) Congenital malformation syndromes predominantly associated with short stature
Aarskog syndrome
Cockayne syndrome (ILDS Q87.110)
De Lange syndrome (ILDS Q87.170)
Dubowitz syndrome
Noonan syndrome
Prader-Willi syndrome
Robinow-Silverman-Smith syndrome
Silver-Russell syndrome (ILDS Q87.114)
Seckel syndrome
Smith-Lemli-Opitz syndrome
Sjogren-Larsson syndrome (ILDS Q87.136)
- Aarskog syndrome
- Cockayne syndrome (ILDS Q87.110)
- De Lange syndrome (ILDS Q87.170)
- Dubowitz syndrome
- Noonan syndrome
- Prader-Willi syndrome
- Robinow-Silverman-Smith syndrome
- Silver-Russell syndrome (ILDS Q87.114)
- Seckel syndrome
- Smith-Lemli-Opitz syndrome
- Sjogren-Larsson syndrome (ILDS Q87.136)
- (Q87.2) Congenital malformation syndromes predominantly involving limbs
Holt-Oram syndrome
Klippel-Trenaunay-Weber (EUROCAT Q87.21, ILDS Q87.210)
Nail-patella syndrome (ILDS Q87.230)
Rubinstein-Taybi syndrome (EUROCAT Q87.23)
sirenomelia
thrombocytopenia with absent radius syndrome
VATER syndrome
- Holt-Oram syndrome
- Klippel-Trenaunay-Weber (EUROCAT Q87.21, ILDS Q87.210)
- Nail-patella syndrome (ILDS Q87.230)
- Rubinstein-Taybi syndrome (EUROCAT Q87.23)
- sirenomelia
- thrombocytopenia with absent radius syndrome
- VATER syndrome
- (Q87.3) Congenital malformation syndromes involving early overgrowth
Beckwith-Wiedemann syndrome
Sotos syndrome
Weaver syndrome
- Beckwith-Wiedemann syndrome
- Sotos syndrome
- Weaver syndrome
- (Q87.4) Marfan's syndrome
- (Q87.5) Other congenital malformation syndromes with other skeletal changes
- (Q87.8) Other specified congenital malformation syndromes, not elsewhere classified
Alport syndrome (EUROCAT Q87.80)
Bardet-Biedl syndrome (EUROCAT Q87.81)
Zellweger's syndrome (EUROCAT Q87.83)
William's syndrome  (EUROCAT Q87.84)
Angelman's syndrome (Happy puppet syndrome)  (EUROCAT Q87.85)
- Alport syndrome (EUROCAT Q87.80)
- Bardet-Biedl syndrome (EUROCAT Q87.81)
- Zellweger's syndrome (EUROCAT Q87.83)
- William's syndrome  (EUROCAT Q87.84)
- Angelman's syndrome (Happy puppet syndrome)  (EUROCAT Q87.85)
- (Q89) Other congenital malformations, not elsewhere classified
(Q89.0) Congenital malformations of spleen
Asplenia (congenital)
Congenital splenomegaly
(Q89.1) Congenital malformations of adrenal gland
(Q89.2) Congenital malformations of other endocrine glands
Congenital malformation of parathyroid or thyroid gland
Persistent thyroglossal duct
Thyroglossal cyst
(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
- (Q89.0) Congenital malformations of spleen
Asplenia (congenital)
Congenital splenomegaly
- Asplenia (congenital)
- Congenital splenomegaly
- (Q89.1) Congenital malformations of adrenal gland
- (Q89.2) Congenital malformations of other endocrine glands
Congenital malformation of parathyroid or thyroid gland
Persistent thyroglossal duct
Thyroglossal cyst
- Congenital malformation of parathyroid or thyroid gland
- Persistent thyroglossal duct
- Thyroglossal cyst
- (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-Q99 - Chromosomal abnormalities, not elsewhere classified
- (Q90) Down's syndrome
(Q90.0) Trisomy 21, meiotic nondisjunction
(Q90.1) Trisomy 21, mosaicism (mitotic nondisjunction)
(Q90.2) Trisomy 21, translocation
(Q90.9) Down's syndrome, unspecified
- (Q90.0) Trisomy 21, meiotic nondisjunction
- (Q90.1) Trisomy 21, mosaicism (mitotic nondisjunction)
- (Q90.2) Trisomy 21, translocation
- (Q90.9) Down's syndrome, unspecified
- (Q91) Trisomy 18 and Trisomy 13
(Q91.0) Trisomy 18, meiotic nondisjunction
(Q91.1) Trisomy 18, mosaicism (mitotic nondisjunction)
(Q91.2) Trisomy 18, translocation
(Q91.3) Edwards' syndrome, unspecified
(Q91.4) Trisomy 13, meiotic nondisjunction
(Q91.5) Trisomy 13, mosaicism (mitotic nondisjunction)
(Q91.6) Trisomy 13, translocation
(Q91.7) Patau's syndrome, unspecified
- (Q91.0) Trisomy 18, meiotic nondisjunction
- (Q91.1) Trisomy 18, mosaicism (mitotic nondisjunction)
- (Q91.2) Trisomy 18, translocation
- (Q91.3) Edwards' syndrome, unspecified
- (Q91.4) Trisomy 13, meiotic nondisjunction
- (Q91.5) Trisomy 13, mosaicism (mitotic nondisjunction)
- (Q91.6) Trisomy 13, translocation
- (Q91.7) Patau's syndrome, unspecified
- (Q92) Other trisomies and partial trisomies of the autosomes, not elsewhere classified
Trisomy 9
Warkany syndrome 2
(Q92.0) Whole chromosome trisomy, meiotic nondisjunction
(Q92.1) Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
(Q92.2) Major partial trisomy
(Q92.3) Minor partial trisomy
(Q92.4) Duplications seen only at prometaphase
(Q92.5) Duplications with other complex rearrangements
(Q92.6) Extra marker chromosomes
(Q92.7) Triploidy and polyploidy
(Q92.8) Other specified trisomies and partial trisomies of autosomes
(Q92.9) Trisomy and partial trisomy of autosomes, unspecified
- Trisomy 9
- Warkany syndrome 2
- (Q92.0) Whole chromosome trisomy, meiotic nondisjunction
- (Q92.1) Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
- (Q92.2) Major partial trisomy
- (Q92.3) Minor partial trisomy
- (Q92.4) Duplications seen only at prometaphase
- (Q92.5) Duplications with other complex rearrangements
- (Q92.6) Extra marker chromosomes
- (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, meiotic nondisjunction
(Q93.1) Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
(Q93.2) Chromosome replaced with ring or dicentric
(Q93.3) Deletion of short arm of chromosome 4
Wolff-Hirschorn syndrome
(Q93.4) Deletion of short arm of chromosome 5
Cri-du-chat syndrome
(Q93.5) Other deletions of part of a chromosome
Angelman syndrome
(Q93.6) Deletion seen only at prometaphase
(Q93.7) Deletions with other complex rearrangements
(Q93.8) Other deletions from the autosomes
(Q93.9) Deletion from autosomes, unspecified
- (Q93.0) Whole chromosome monosomy, meiotic nondisjunction
- (Q93.1) Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
- (Q93.2) Chromosome replaced with ring or dicentric
- (Q93.3) Deletion of short arm of chromosome 4
Wolff-Hirschorn syndrome
- Wolff-Hirschorn syndrome
- (Q93.4) Deletion of short arm of chromosome 5
Cri-du-chat syndrome
- Cri-du-chat syndrome
- (Q93.5) Other deletions of part of a chromosome
Angelman syndrome
- Angelman syndrome
- (Q93.6) Deletion seen only at prometaphase
- (Q93.7) Deletions with other complex rearrangements
- (Q93.8) Other deletions from the autosomes
- (Q93.9) Deletion from autosomes, unspecified
- (Q95) Balanced rearrangements and structural markers, not elsewhere classified
Robertsonian and balanced reciprocal translocations and insertions
(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
(Q95.4) Individuals with marker heterochromatin
(Q95.5) Individuals with autosomal fragile site
(Q95.8) Other balanced rearrangements and structural markers
(Q95.9) Balanced rearrangement and structural marker, unspecified
- Robertsonian and balanced reciprocal translocations and insertions
- (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
- (Q95.4) Individuals with marker heterochromatin
- (Q95.5) Individuals with autosomal fragile site
- (Q95.8) Other balanced rearrangements and structural markers
- (Q95.9) Balanced rearrangement and structural marker, unspecified
- (Q96) Turner 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
- (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
- (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's syndrome karyotype 47,XXY
(Q98.1) Klinefelter's syndrome, male with more than two X chromosomes
(Q98.2) Klinefelter's syndrome, male with 46,XX karyotype
(Q98.3) Other male with 46,XX karyotype
(Q98.4) Klinefelter's 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
- (Q98.0) Klinefelter's syndrome karyotype 47,XXY
- (Q98.1) Klinefelter's syndrome, male with more than two X chromosomes
- (Q98.2) Klinefelter's syndrome, male with 46,XX karyotype
- (Q98.3) Other male with 46,XX karyotype
- (Q98.4) Klinefelter's 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
46,XX with streak gonads
46,XY with streak gonads
Pure gonadal dysgenesis
(Q99.2) Fragile X chromosome
Fragile X syndrome
(Q99.8) Other specified chromosome abnormalities
(Q99.9) Chromosomal abnormality, unspecified
- (Q99.0) Chimera 46,XX/46,XY
- (Q99.1) 46,XX true hermaphrodite
46,XX with streak gonads
46,XY with streak gonads
Pure gonadal dysgenesis
- 46,XX with streak gonads
- 46,XY with streak gonads
- Pure gonadal dysgenesis
- (Q99.2) Fragile X chromosome
Fragile X syndrome
- Fragile X syndrome
- (Q99.8) Other specified chromosome abnormalities
- (Q99.9) Chromosomal abnormality, unspecified