ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Q00-Q89 - Congenital malformations and deformations

(Q00-Q07) nervous system

• (Q00) Anencephaly and similar malformations
  • (Q00.0) Anencephaly
    • Acephaly
  • (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

• (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

• (Q05) Spina bifida

• (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
  • (Q07.8) 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
  • (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
  • (Q13.1) Absence of iris
    • Aniridia
• (Q14) Congenital malformations of posterior segment of eye
• (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

• (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

• (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

(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

• (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

• (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

• (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) 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

• (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

• (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

• (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-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

• (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) 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-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

• (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

• (Q40) Other congenital malformations of upper alimentary tract
  • (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

• (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

• (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
  • (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

• (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-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

• (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

• (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

• (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

• (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-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

• (Q61) Cystic kidney disease

• (Q62) Congenital obstructive defects of renal pelvis and 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
  • (Q64.2) 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

(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

• (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

• (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

• (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

• (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
  • (Q70.1) 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

• (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

• (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)

• (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)

• (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

• (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

• (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
    • Hypochondroplasia
  • (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

• (Q78) Other osteochondrodysplasias
  • (Q78.0) Osteogenesis imperfecta
  • (Q78.1) Polyostotic fibrous dysplasia
  • (Q78.2) Osteopetrosis
  • (Q78.3) Progressive diaphyseal dysplasia
  • (Q78.4) Enchondromatosis
    • Maffucci's syndrome
    • Ollier's disease
  • (Q78.5) Metaphyseal dysplasia
  • (Q78.6) Multiple congenital exostoses
  • (Q78.8) Other specified osteochondrodysplasias
  • (Q78.9) Osteochondrodysplasia, unspecified

• (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
  • (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

• (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 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

• (Q83) Congenital malformations of breast
  • (Q83.1) Accessory breast
  • (Q83.3) Accessory nipple
    • Supernumerary nipple

• (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
  • (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

• (Q86) Congenital malformation syndromes due to known exogenous causes, not elsewhere classified
  • (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
    • 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
    • Sjögren-Larsson syndrome (ILDS Q87.136)
  • (Q87.2) Congenital malformation syndromes predominantly involving limbs
    • Holt-Oram syndrome
    • Klippel-Trénaunay-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)

• (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

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

• (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

• (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

• (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

• (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

• (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

• (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'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
  • (Q99.2) Fragile X chromosome
    • Fragile X syndrome
  • (Q99.8) Other specified chromosome abnormalities
  • (Q99.9) Chromosomal abnormality, unspecified

See also

• List of ICD-10 codes
• International Statistical Classification of Diseases and Related Health Problems
• List of ICD-9 codes 740-759: Congenital anomalies
• Congenital disorder