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

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Contents 1 Q00-Q89 - Congenital malformations and deformations 1.1 (Q00-Q07) nervous system 1.2 (Q10-Q18) eye, ear, face and neck 1.3 (Q20-Q28) circulatory system 1.4 (Q30-Q34) respiratory system 1.5 (Q35-Q45) digestive system 1.6 (Q50-Q56) genital organs 1.7 (Q60-Q64) urinary system 1.8 (Q65-Q79) musculoskeletal system 1.9 (Q80-Q89) Other 2 Q90-Q99 - Chromosomal abnormalities, not elsewhere classified 3 See also

[edit] Q00-Q89 - Congenital malformations and deformations

[edit] (Q00-Q07) nervous system

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

• (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
  • • 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

• (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

[edit] (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

• (Q11.) Anophthalmos, microphthalmos and macrophthalmos
  • (Q11.0) Cystic eyeball
  • (Q11.1) Other anophthalmos
  • (Q11.2) Microphthalmos
  • (Q11.3) Macrophthalmos

• (Q12.) Congenital lens malformations
  • (Q12.0) Congenital cataract
  • (Q12.1) Congenital displaced lens
  • (Q12.2) Coloboma of lens
  • (Q12.3) Congenital aphakia
  • (Q12.4) Spherophakia
  • (Q12.8) Other congenital lens malformations
  • (Q12.9) Congenital lens malformation, unspecified

• (Q13.) Congenital malformations of anterior segment of eye
  • (Q13.0) Coloboma of iris
  • (Q13.1) Absence of iris
    • 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

• (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
    • Accessory tragus
    • Polyotia
    • Preauricular appendage or tag
  • (Q17.1) Macrotia
  • (Q17.2) Microtia
  • (Q17.3) Other misshapen ear
    • Pointed ear
  • (Q17.4) Misplaced ear
    • Low-set ears
  • (Q17.5) Prominent ear
    • Bat 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

[edit] (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
    • Common atrioventricular canal
    • Endocardial cushion defect
    • Ostium primum atrial septal defect (type I)
  • (Q21.3) Tetralogy of Fallot
  • (Q21.4) Aortopulmonary septal defect
    • Aortic septal defect
    • Aortopulmonary window
  • (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

[edit] (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

[edit] (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
    • Aglossia
    • Bifid tongue
    • Hypoplasia of tongue
    • Hypoglossia
    • Microglossia
  • (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
    • 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
    • Dolichocolon
    • Megaloappendix
    • Megaloduodenum
    • Microcolon

• (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
    • Accessory pancreas
  • (Q45.8) Other specified congenital malformations of digestive system
  • (Q45.9) Congenital malformation of digestive system, unspecified]]

[edit] (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

[edit] (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 sequence

• (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

• (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

• (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

[edit] (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)
    • Ectromelia NOS
    • Hemimelia NOS
    • Reduction defect, NOS

• (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
    • Acrocephaly
    • Imperfect fusion of skull
    • Oxycephaly
    • Trigonocephaly
  • (Q75.1) Craniofacial dysostosis
    • Crouzon's disease
  • (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
    • 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

• (Q78.) Other osteochondrodysplasias
  • (Q78.0) Osteogenesis imperfecta
    • Fragilitas ossium
    • Osteopsathyrosis
  • (Q78.1) Polyostotic fibrous dysplasia
    • Albright(-McCune)(-Sternberg) syndrome
  • (Q78.2) Osteopetrosis
    • Albers-Schönberg 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

• (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

[edit] (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 disease)
    • 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

• (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

• (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)
  • (Q86.1) Fetal hydantoin syndrome
    • Meadow's syndrome
  • (Q86.2) Dysmorphism due to warfarin
  • (Q86.3) Other congenital malformation syndromes due to known exogenous causes

• (Q87.) Other specified congenital malformation syndromes affecting multiple systems
  • (Q87.0) Congenital malformation syndromes predominantly affecting facial appearance
    • 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

[edit] 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
    • 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

[edit] 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

v • d • e Pathology: Medical conditions (Diseases/Disorders/Illness, Syndromes/Sequences, Symptoms/Signs, Injuries, etc.) and ICD codes (A/B, 001-139) Infectious disease/Infection: Bacterial disease (G+, G-) · Virus disease · Parasitic disease (Protozoan infection, Helminthiasis, Ectoparasitic infestation) · Mycosis · Zoonosis (C/D, 140-239 & 280-289) Cancer (C00-D48, 140-239) Tumor Myeloid hematologic (D50-D77, 280-289) Anemia · Coagulopathy Lymphoid immune (D80-D89, 279) Immunodeficiency · Immunoproliferative disorder · Hypersensitivity (E, 240-278) Endocrine disease · Nutrition disorder · Inborn error of metabolism (F, 290-319) Mental disorder (G, 320-359) Nervous system disease (CNS, PNS) · Neuromuscular disease (H, 360-389) Eye disease · Ear disease (I, 390-459) Cardiovascular disease (Heart disease, Vascular disease) (J, 460-519) Respiratory disease (Obstructive lung disease, Restrictive lung disease, Pneumonia) (K, 520-579) Stomatognathic disease (Tooth disease) · Digestive disease (Esophageal, Stomach, Enteropathy, Liver, Pancreatic) (L, 680-709) Skin disease · skin appendages (Nail disease, Hair disease, Sweat gland disease) (M, 710-739) Musculoskeletal disorders · Osteochondropathy (Osteopathy, Chondropathy) (N, 580-629) Urologic disease (Nephropathy, Urinary bladder disease) · Male genital disease · Breast disease · Female genital disease (O, 630-679) Complications of pregnancy · Obstetric labor complication · Puerperal disorder (P, 760-779) Fetal disease (Q, 740-759) Congenital disorder (R, 780-799) Syndromes · Medical signs (Eponymous) (S/T, 800-999) Bone fracture · Joint dislocation · Sprain · Strain · subluxation · Head injury · Chest trauma · Poisoning

v • d • e Congenital malformations and deformations of nervous system (Q00-Q07, 740-742) Brain Neural tube defect Anencephaly (Acephaly, Acrania, Iniencephaly) · Encephalocele · Arnold-Chiari malformation Other Microcephaly · Congenital hydrocephalus (Dandy-Walker syndrome) other reduction deformities (Holoprosencephaly, Lissencephaly, Pachygyria, Hydranencephaly) Septo-optic dysplasia · Megalencephaly CNS cyst (Porencephaly, Schizencephaly) Polymicrogyria (Bilateral frontoparietal polymicrogyria) Spinal cord Neural tube defect Spina bifida · Rachischisis Other Currarino syndrome · Diastomatomyelia · Syringomyelia central nervous system navs: anat/physio/dev, noncongen/congen/neoplasia, symptoms+signs/eponymous, proc

v • d • e Congenital malformations and deformations of eyes (Q10-Q15, 743) Adnexa Eyelid Ptosis · Ectropion · Entropion · Distichia · Blepharophimosis · Ablepharon · Marcus Gunn phenomenon Lacrimal apparatus Congenital lacrimal duct obstruction Globe Entire eye Anophthalmia · Microphthalmia Lens Ectopia lentis · Aphakia Iris Aniridia Anterior segment Axenfeld syndrome Cornea Keratoglobus · Megalocornea Other Buphthalmos · Coloboma · Hydrophthalmos · Norrie disease eye navs: anat/adnexa anat/pathways/physio/dev, noncongen/congen/neoplasia, eponymous signs, proc

v • d • e Congenital malformations and deformations of ears (Q16-Q17, 744.0-744.3) Ears Macrotia · Microtia · Low-set ears ear navs: anat/pathways/physio/dev, noncongen/congen, eponymous signs, proc

v • d • e Congenital malformations and deformations of face and neck (Q18, 744.4-744.9) Face jaw: Otocephaly mouth: Macrostomia · Microstomia lip: Macrocheilia · Microcheilia multiple: Hallermann-Streiff syndrome Neck Webbed neck mouth navs: anat/dev, noncongen/congen face/congen GI/neoplasia, symptoms, proc

v • d • e Congenital heart defects (Q20-Q24, 745-746) Cardiac shunt/ heart septal defect Aortopulmonary septal defect R→L: Double outlet right ventricle (Taussig-Bing syndrome) · Transposition of the great vessels (dextro, levo) · Persistent truncus arteriosus Aortopulmonary window Atrial septal defect L→R: Sinus venosus atrial septal defect · Lutembacher's syndrome Ventricular septal defect L→R and R→L: Eisenmenger's syndrome R→L, with other conditions: Tetralogy of Fallot Atrioventricular septal defect L→R: Ostium primum Valvular heart disease/ heart chambers Right pulmonary valves (stenosis, insufficiency) · tricuspid valves (stenosis, atresia, Ebstein's anomaly) · Hypoplastic right heart syndrome Left aortic valves (stenosis, insufficiency, bicuspid) · mitral valves (stenosis, regurgitation) · Hypoplastic left heart syndrome Other Dextrocardia · Levocardia · Cor triatriatum · Crisscross heart · Brugada syndrome · Coronary artery anomaly · Ventricular inversion heart navs: anat/physio/dev, noncongen/congen/neoplasia, symptoms+signs/eponymous, proc

v • d • e Congenital vascular defects (Q25-Q28, 747) Great arteries/ other arteries Aorta Patent ductus arteriosus · Coarctation of the aorta · Interrupted aortic arch · Overriding aorta · Aneurysm of sinus of Valsalva · Vascular ring Pulmonary artery Pulmonary atresia · Stenosis of pulmonary artery Subclavian artery Aberrant subclavian artery Great veins Superior/inferior vena cava Congenital stenosis of vena cava · Persistent left superior vena cava Pulmonary vein Anomalous pulmonary venous connection (Total, Partial) · Scimitar syndrome Arteriovenous malformation Cerebral arteriovenous malformation vascular navs: anat/physio/dev, noncongen/systemic vasculitis/congen/neoplasia, symptoms+signs/eponymous, proc

v • d • e Congenital malformations and deformations of respiratory system (Q30-Q34, 748) Upper RT Nose Choanal atresia Larynx Laryngocele - Laryngomalacia Lower RT Trachea and bronchus Tracheomalacia - Tracheal stenosis - Bronchomalacia - Mounier-Kuhn syndrome Lung Bronchiectasis - Pulmonary hypoplasia - Pulmonary sequestration - Congenital cystic adenomatoid malformation respiratory system navs: anat nose,larynx/lower+thoracic cavity/physio/dev, noncongen/congen/tumors, symptoms+signs/eponymous, proc

v • d • e Congenital malformations and deformations of digestive system (Q35-Q45, 749-751) Upper GI tract Tongue, mouth and pharynx Cleft lip and palate · Van der Woude syndrome · tongue (Ankyloglossia, Macroglossia, Hypoglossia) Esophagus EA/TEF (Esophageal atresia: types A, B, C, and D, Tracheoesophageal fistula: types B, C, D and E) esophageal rings (Esophageal web  · upper, Schatzki ring · lower) Stomach Pyloric stenosis · Hiatus hernia Lower GI tract Intestines Intestinal atresia (Duodenal atresia) · Meckel's diverticulum · Hirschsprung's disease · Intestinal malrotation · Dolichocolon · Enteric duplication cyst Rectum/anus Imperforate anus · Persistent cloaca Accessory Pancreas Annular pancreas · Accessory pancreas · Johanson-Blizzard syndrome Pancreas divisum Bile duct Choledochal cysts (Caroli disease) · Biliary atresia Liver Alagille syndrome mouth navs: anat/dev, noncongen/congen face/congen GI/neoplasia, symptoms, proc digestive system navs: anat of tract,glands,perit,diaphragm/physio/dev, noncongen/congen/congen of d+w/neoplasia, symptoms+signs/eponymous, proc

v • d • e Congenital malformations and deformations of sex organs (Q50-Q56 · 752) Female Uterine malformation Müllerian agenesis · Unicornuate uterus · Uterus didelphys · Bicornuate uterus · Uterine septum · Arcuate uterus Other Vaginal septum · Clitoromegaly Male Testicle Cryptorchidism · Polyorchidism · Monorchism · Anorchia · Sertoli cell-only syndrome Penis Hypospadias · Chordee · Micropenis · Macropenis · Penile agenesis · Diphallia Vas deferens Congenital absence of the vas deferens SDS/DSD Pseudohermaphroditism · True hermaphroditism · Mixed gonadal dysgenesis · Swyer syndrome · Persistent Mullerian duct syndrome reproductive system navs: anat female,male/physio/dev, noncongen/congen/neoplasia, symptoms+signs/eponymous, proc

v • d • e Congenital malformations and deformations of urinary system (Q60-Q64, 753) Abdominal Kidney Renal agenesis/Potter sequence, Papillorenal syndrome cystic (Polycystic kidney disease, Meckel syndrome, Multicystic dysplastic kidney, Medullary sponge kidney) Horseshoe kidney - Renal ectopia - Nephronophthisis Dent's disease - Alport syndrome Ureter Ectopic ureter - Megaureter Pelvic Bladder Bladder exstrophy Urethra Epispadias - Hypospadias Vestigial Urachus Urachal cyst urinary system navs: anat/physio/dev, noncongen/acid+base/congen/neoplasia, symptoms+signs/eponymous, proc

v • d • e Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality (Q65-Q76, 754-756.3) Limb/ dysmelia Upper clavicle/shoulder: Cleidocranial dysostosis · Sprengel's deformity · Wallis Zieff Goldblatt syndrome hand deformity: Madelung's deformity · Clinodactyly Lower hip: Dislocation of hip/Hip dysplasia · Upington disease · Coxa valga · Coxa vara knee: Genu valgum · Genu varum foot deformity: Club foot · Flat feet · Pes cavus · Rocker bottom foot Either/both dactyly/digit: Polydactyly/Syndactyly (Webbed toes) · Arachnodactyly · Cenani Lenz syndactylism · Ectrodactyly · Brachydactyly reduction deficits/limb: Acheiropodia · ectromelia (Phocomelia, Amelia, Hemimelia) multiple joints: Arthrogryposis · Larsen syndrome · Rapadilino syndrome Craniofacial Craniosynostosis: Scaphocephaly · Oxycephaly · Trigonocephaly Craniofacial dysostosis: Crouzon syndrome · Hypertelorism · Hallermann-Streiff syndrome · Treacher Collins syndrome other: Macrocephaly · Platybasia · Craniodiaphyseal dysplasia · Dolichocephaly · Greig cephalopolysyndactyly syndrome · Plagiocephaly · Saddle nose Other axial spine: spinal curvature (Scoliosis) · Klippel-Feil syndrome · Spondylolisthesis · Spina bifida occulta ribs: Cervical rib · Bifid rib sternum: Pectus excavatum · Pectus carinatum joint navs: anat, non-congenital arthropathies/deformities/dorsopathies/soft tissue arthropathy/congenital, eponymous signs, proc

v • d • e Osteochondrodysplasia (Q77-Q78, 756.4-756.5) Osteodysplasia/ osteodystrophy Diaphysis Camurati-Engelmann disease/Engelmann syndrome Metaphysis Metaphyseal dysplasia · Jansen's metaphyseal chondrodysplasia · Schmid metaphyseal chondrodysplasia Epiphysis Spondyloepiphyseal dysplasia congenita · Multiple epiphyseal dysplasia · Otospondylomegaepiphyseal dysplasia Osteosclerosis Raine syndrome · Osteopoikilosis · Osteopetrosis Other/ungrouped FLNB (Boomerang dysplasia) · Polyostotic fibrous dysplasia (McCune-Albright syndrome) Chondrodysplasia/ chondrodystrophy (including dwarfism) Osteochondroma osteochondromatosis (Hereditary multiple exostoses) Chondroma/enchondroma enchondromatosis (Ollier disease, Maffucci syndrome) Growth factor receptor FGFR2: Antley-Bixler syndrome FGFR3: Achondroplasia (Hypochondroplasia) · Thanatophoric dysplasia COL2A1 collagen disease Achondrogenesis (type 2) · Hypochondrogenesis SLC26A2 sulfation defect Achondrogenesis (type 1B) · Recessive multiple epiphyseal dysplasia · Atelosteogenesis, type II · Diastrophic dysplasia Chondrodysplasia punctata Rhizomelic chondrodysplasia punctata · Conradi-Hünermann syndrome Other dwarfism Fibrochondrogenesis · Short rib-polydactyly syndrome (Majewski's polydactyly syndrome) · Léri-Weill dyschondrosteosis bone and cartilage navs: anat/physio/dev, noncongen/congen/neoplasia, symptoms+signs/eponymous signs, proc

v • d • e Congenital diaphragm and abdominal wall defects, abdominopelvic cavity (Q79.0-Q79.5, 756.6-756.7) Thoracic diaphragm Hernia: Congenital diaphragmatic hernia (Bochdalek hernia) Abdominal wall Omphalocele · Gastroschisis · Prune belly syndrome digestive system navs: anat of tract,glands,perit,diaphragm/physio/dev, noncongen/congen/congen of d+w/neoplasia, symptoms+signs/eponymous, proc

v • d • e Congenital malformations and deformations of integument (Q80-Q82, 757.0-757.3) Skin disease/ genodermatosis Congenital ichthyosis AD Ichthyosis vulgaris AR Congenital ichthyosiform erythroderma: Epidermolytic hyperkeratosis · Ichthyosis lamellaris (Harlequin type ichthyosis) Netherton syndrome · Zunich-Kaye syndrome · Sjögren-Larsson syndrome XR X-linked ichthyosis Epidermolysis bullosa Epidermolysis bullosa simplex · Junctional epidermolysis bullosa · Epidermolysis bullosa dystrophica Pigmentation disorder Incontinentia pigmenti  · Urticaria pigmentosa · Lelis syndrome DNA repair-deficiency disorder Bloom syndrome · Rothmund-Thomson syndrome · Xeroderma pigmentosum Ectodermal dysplasia Naegeli syndrome/Dermatopathia pigmentosa reticularis · Hay-Wells syndrome · Hypohidrotic ectodermal dysplasia · Focal dermal hypoplasia · Ellis-van Creveld syndrome Hyperkeratosis/keratinopathy Meleda disease · Keratosis pilaris · Darier's disease · Dyskeratosis congenita · Lelis syndrome Nevus Capillary hemangioma · Port-wine stain (Nevus flammeus nuchae) Other Familial cutaneous papillomatosis · Kindler syndrome · cadherin (EEM syndrome) · immune system (Hereditary lymphedema, Mastocytosis) · Hailey Hailey · Birthmark Elastic fiber/Connective tissue Cutis laxa (Gerodermia osteodysplastica) · Pseudoxanthoma elasticum integument, SF, LCT navs: anat/physio, noncongen/congen/neoplasia, symptoms+signs/eponymous, proc

v • d • e Congenital malformations and deformations of skin appendages (Q84, 757.4-757.5) Nail disease Anonychia · Leukonychia · Pachyonychia congenita/Onychauxis · Koilonychia Hair disease keratin disease (Monilethrix) · Sabinas brittle hair syndrome · Pili annulati · Uncombable hair syndrome skin appendage navs: anat, noncongen/congen/neoplasia, symptoms+signs/eponymous, proc

v • d • e Congenital malformations and deformations of the breast (Q83, 757.6) Breast Amastia · Polymastia · Micromastia Nipple Athelia · Polythelia breast navs: anat/physio, noncongen/congenital/neoplasia, proc

v • d • e Phakomatoses (Q85, 759.5-759.6) Neurofibromatosis Type I · Type II Angiomatosis Sturge-Weber syndrome · Von Hippel-Lindau disease Hamartoma Tuberous sclerosis · Hypothalamic hamartoma (Pallister-Hall syndrome) · Multiple hamartoma syndrome (Proteus syndrome, Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Lhermitte-Duclos disease) Other Abdallat Davis Farrage syndrome · Ataxia telangiectasia · Incontinentia pigmenti · Peutz-Jeghers syndrome

v • d • e Congenital abnormality · multiple abnormalities (Q87, 759.7) Craniofacial Acrocephalosyndactylia (Apert syndrome/Pfeiffer syndrome, Saethre-Chotzen syndrome, Carpenter syndrome, Sakati-Nyhan-Tisdale syndrome) other: Möbius syndrome · Goldenhar syndrome · Cyclopia Short stature Aarskog-Scott syndrome · Cockayne syndrome · Cornelia de Lange Syndrome · Dubowitz syndrome · Noonan syndrome · Robinow syndrome · Silver-Russell dwarfism · Seckel syndrome · Smith-Lemli-Opitz syndrome-Turner syndrome Limbs Adducted thumb syndrome · Holt-Oram syndrome · Klippel-Trénaunay-Weber syndrome · Nail-patella syndrome · Rubinstein-Taybi syndrome Gastrulation/mesoderm: Caudal regression syndrome · ectromelia (Sirenomelia) · VACTERL association Overgrowth Beckwith-Wiedemann syndrome · Sotos syndrome · Weaver syndrome Laurence-Moon-Bardet-Biedl Bardet-Biedl syndrome · Laurence-Moon syndrome Combined/other, known locus 3 (Zimmerman-Laband syndrome) · 4/13 (Fraser syndrome) · 8 (Branchio-oto-renal syndrome) · 12 (Keutel syndrome, Timothy syndrome) · 15 (Marfan syndrome) · 19 (Donohue syndrome) Combined/other, unknown locus Ablepharon macrostomia syndrome · Fountain syndrome · Urban-Rogers-Meyer syndrome · Yunis-Varon syndrome

v • d • e Lymphatic disease: splenic disease (D73/Q89.0, 289.4-289.5/759.0) Acquired Acquired asplenia/hyposplenism · Wandering spleen · Splenomegaly (Banti's syndrome) Congenital Congenital asplenia/hyposplenism · Accessory spleen · Polysplenia lymphatic organ navs: anat, physio, lymphatic disease/splenic disease/thymus disorders/thymus neoplasia/vascular tumors, proc

v • d • e Congenital endocrine disease (Q89.1-Q89.2, 759.1-759.2) Pancreas see congenital digestive Hypothalamic/ pituitary axes +parathyroid Pituitary Congenital hypopituitarism Thyroid Persistent thyroglossal duct · Thyroglossal cyst Congenital hypothyroidism: Thyroid dysgenesis · Thyroid dyshormonogenesis (Pendred syndrome) Parathyroid Congenital absence of parathyroid Adrenal Absent adrenal gland Gonads see congenital reproductive endocrine navs: anat/physio/dev/hormones, noncongen/congen/neoplasia, symptoms+signs/eponymous, proc

v • d • e Twin conditions (Q89.3-Q89.4, 759.3-759.4) Zygosity Monozygotic  · Dizygotic  · Half twin Monochorionic twins Twin-to-twin transfusion syndrome  · Twin reversed arterial perfusion  · Monoamniotic twins Conjoined twins Parasitic twin (Craniopagus parasiticus, Fetus in fetu) Other Vanishing twin  · Chimerism

v • d • e Pathology: chromosome abnormalities (Q90-Q99 · 758) Autosomal Trisomies Down syndrome (21) · Edwards syndrome (18) · Patau syndrome (13) Trisomy 9 · Warkany syndrome 2 (8) · Trisomy 22/Cat eye syndrome (22) · Trisomy 16 Monosomies/deletions Wolf-Hirschhorn syndrome (4) · Cri du chat/Chromosome 5q deletion syndrome (5) · Williams syndrome (7) · Jacobsen syndrome (11) · Miller-Dieker syndrome/Smith-Magenis syndrome (17) · Di George's syndrome (22) genomic imprinting (Angelman syndrome/Prader-Willi syndrome (15)) X/Y linked Monosomy Turner syndrome (XO) Trisomy/tetrasomy, other karyotypes/mosaics Klinefelter's syndrome (47,XXY) · 48,XXYY · 48,XXXY · 49,XXXYY · 49,XXXXY Triple X syndrome (47,XXX) · 48,XXXX · 49,XXXXX 47,XYY · 48,XYYY · 49,XYYYY 46,XX/XY Translocations Leukemia/lymphoma Lymphoid Burkitt's lymphoma t(8 MYC;14 IGH) · Follicular lymphoma t(14 IGH;18 BCL2) · Mantle cell lymphoma/Multiple myeloma t(11 CCND1:14 IGH) · Anaplastic large cell lymphoma t(2 ALK;5 NPM1) · Acute lymphoblastic leukemia Myeloid Philadelphia chromosome t(9 ABL; 22 BCR) · Acute myeloblastic leukemia with maturation t(8 RUNX1T1;21 RUNX1) · Acute promyelocytic leukemia t(15 PML,17 RARA) · Acute megakaryoblastic leukemia t(1 RBM15;22 MKL1) Other Ewing's sarcoma t(11 FLI1; 22 EWS) · Synovial sarcoma t(x SYT;18 SSX) · Dermatofibrosarcoma protuberans t(17 COL1A1;22 PDGFB) · Myxoid liposarcoma t(12 DDIT3; 16 FUS) · Desmoplastic small round cell tumor t(11 WT1; 22 EWS) · Alveolar rhabdomyosarcoma t(2 PAX3; 13 FOXO1) t (1 PAX7; 13 FOXO1) Gonadal dysgenesis Mixed gonadal dysgenesis · XX gonadal dysgenesis Other Fragile X syndrome · Uniparental disomy