ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities Information & ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities Links at HealthHaven.com

ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities Information & ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities Links at HealthHaven.com

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Contents

1 Q00-Q89 - Congenital malformations and deformations
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
- (Q 00.1) Craniorachischisis
- (Q 00.2) Iniencephaly

(Q 01.) Encephalocele
(Q 02.) Microcephaly
(Q03.) Congenital hydrocephalus
- (Q 03.0) Malformations of aqueduct of Sylvius
- (Q03.1) Atresia of foramina of Magendie and Luschka
  - Dandy-Walker syndrome
- (Q 03.8) Other congenital hydrocephalus
- (Q 03.9) Congenital hydrocephalus, unspecified

(Q04.) Other congenital malformations of brain
- (Q 04.0) Congenital malformations of corpus callosum
- (Q 04.1) Arhinencephaly
- (Q 04.2) Holoprosencephaly
- (Q04.3) Other reduction deformities of brain
  - Agyria and Lissencephaly (EUROCAT Q04.33)
  - Microgyria and Pachygyria (EUROCAT Q04.34)
  - Hydranencephaly (EUROCAT Q04.35)
- (Q 04.4) Septo-optic dysplasia
- (Q 04.5) Megalencephaly
- (Q04.6) Congenital cerebral cysts
  - Porencephaly
  - Schizencephaly
- (Q 04.8) Other specified congenital malformations of brain
- (Q 04.9) Congenital malformation of brain, unspecified

(Q05.) Spina bifida
- - hydromeningocele (spinal)
  - meningocele(spinal)
  - meningomyelocele
  - myelocele
  - myelomeningocele
  - rachischisis
  - syringomyelocele

(Q06.) Other congenital malformations of spinal cord
- (Q 06.0) Amyelia
- (Q 06.1) Hypoplasia and dysplasia of spinal cord
- (Q 06.2) Diastematomyelia
- (Q 06.3) Other congenital cauda equina malformations
- (Q 06.4) Hydromyelia
- (Q 06.8) Other specified congenital malformations of spinal cord
- (Q 06.9) Congenital malformation of spinal cord, unspecified

(Q07.) Other congenital malformations of nervous system
- (Q 07.0) Arnold-Chiari syndrome
- (Q 07.8) Other specified congenital malformations of nervous system
- (Q 07.9) Congenital malformation of nervous system, unspecified

[edit] (Q10-Q18) eye, ear, face and neck

(Q10.) Congenital malformations of eyelid, lacrimal apparatus and orbit
- (Q 10.0) Congenital ptosis
- (Q 10.1) Congenital ectropion
- (Q 10.2) Congenital entropion
- (Q10.3) Other congenital malformations of eyelid
  - Ablepharon
  - Blepharophimosis, congenital
  - Coloboma of eyelid
- (Q 10.4) Absence and agenesis of lacrimal apparatus
- (Q 10.5) Congenital stenosis and stricture of lacrimal duct
- (Q 10.6) Other congenital malformations of lacrimal apparatus
- (Q 10.7) Congenital malformation of orbit

(Q11.) Anophthalmos, microphthalmos and macrophthalmos
- (Q 11.0) Cystic eyeball
- (Q 11.1) Other anophthalmos
- (Q 11.2) Microphthalmos
- (Q 11.3) Macrophthalmos

(Q12.) Congenital lens malformations
- (Q 12.0) Congenital cataract
- (Q 12.1) Congenital displaced lens
- (Q 12.2) Coloboma of lens
- (Q 12.3) Congenital aphakia
- (Q 12.4) Spherophakia
- (Q 12.8) Other congenital lens malformations
- (Q 12.9) Congenital lens malformation, unspecified

(Q13.) Congenital malformations of anterior segment of eye
- (Q 13.0) Coloboma of iris
- (Q13.1) Absence of iris
  - Aniridia
- (Q 13.2) Other congenital malformations of iris
- (Q 13.3) Congenital corneal opacity
- (Q 13.4) Other congenital corneal malformations
- (Q 13.5) Blue sclera
- (Q 13.8) Other congenital malformations of anterior segment of eye
- (Q 13.9) Congenital malformation of anterior segment of eye, unspecified

(Q14.) Congenital malformations of posterior segment of eye
- (Q 14.0) Congenital malformation of vitreous humour
- (Q 14.1) Congenital malformation of retina
- (Q14.2) Congenital malformation of optic disc
  - Coloboma of optic disc
- (Q 14.3) Congenital malformation of choroid
- (Q14.8) Other congenital malformations of posterior segment of eye
  - Coloboma of the fundus
- (Q 14.9) 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

(Q 16.) 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
- (Q 17.1) Macrotia
- (Q 17.2) Microtia
- (Q17.3) Other misshapen ear
  - Pointed ear
- (Q17.4) Misplaced ear
  - Low-set ears
- (Q17.5) Prominent ear
  - Bat ear
- (Q 17.8) Other specified congenital malformations of ear
- (Q 17.9) Congenital malformation of ear, unspecified

(Q18.) Other congenital malformations of face and neck
- (Q 18.0) Sinus, fistula and cyst of branchial cleft
- (Q 18.1) Preauricular sinus and cyst
- (Q18.2) Other branchial cleft malformations
  - Otocephaly
- (Q 18.3) Webbing of neck
- (Q 18.4) Macrostomia
- (Q 18.5) Microstomia
- (Q 18.6) Macrocheilia
- (Q 18.7) Microcheilia
- (Q 18.8) Other specified congenital malformations of face and neck
- (Q 18.9) 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
- (Q 20.2) Double outlet left ventricle
- (Q20.3) Discordant ventriculoarterial connection
  - Dextrotransposition of aorta
  - Transposition of great vessels (complete)
- (Q 20.4) Double inlet ventricle
- (Q20.5) Discordant atrioventricular connection
  - Corrected transposition
- (Q 20.6) Isomerism of atrial appendages

(Q21.) Congenital malformations of cardiac septa
- (Q 21.0) Ventricular septal defect
- (Q 21.1) Atrial septal defect
- (Q21.2) Atrioventricular septal defect
- (Q 21.3) 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
- (Q 22.0) Pulmonary valve atresia
- (Q 22.1) Congenital pulmonary valve stenosis
- (Q 22.2) Congenital pulmonary valve insufficiency
- (Q 22.3) Other congenital malformations of pulmonary valve
- (Q22.4) Congenital tricuspid stenosis
  - Tricuspid atresia
- (Q 22.5) Ebstein's anomaly
- (Q 22.6) Hypoplastic right heart syndrome
- (Q 22.8) Other congenital malformations of tricuspid valve
- (Q 22.9) Congenital malformation of tricuspid valve, unspecified

(Q23.) Congenital malformations of aortic and mitral valves
- (Q 23.0) Congenital stenosis of aortic valve
- (Q 23.1) Congenital insufficiency of aortic valve
- (Q 23.2) Congenital mitral stenosis
- (Q 23.3) Congenital mitral insufficiency
- (Q 23.4) Hypoplastic left heart syndrome
- (Q 23.8) Other congenital malformations of aortic and mitral valves
- (Q 23.9) Congenital malformation of aortic and mitral valves, unspecified

(Q24.) Other congenital malformations of heart
- (Q 24.0) Dextrocardia
- (Q 24.1) Laevocardia
- (Q 24.2) Cor triatriatum
- (Q 24.3) Pulmonary infundibular stenosis
- (Q 24.4) Congenital subaortic stenosis
- (Q 24.5) Malformation of coronary vessels
- (Q 24.6) Congenital heart block
- (Q 24.8) Other specified congenital malformations of heart
- (Q 24.9) Congenital malformation of heart, unspecified

(Q25.) Congenital malformations of great arteries
- (Q 25.0) Patent ductus arteriosus
- (Q 25.1) Coarctation of aorta
- (Q 25.2) Atresia of aorta
- (Q 25.3) 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)
- (Q 25.5) Atresia of pulmonary artery
- (Q 25.6) Stenosis of pulmonary artery
- (Q 25.7) Other congenital malformations of pulmonary artery

(Q26.) Congenital malformations of great veins
- (Q 26.0) Congenital stenosis of vena cava
- (Q 26.1) Persistent left superior vena cava
- (Q 26.2) Total anomalous pulmonary venous connection
- (Q 26.3) Partial anomalous pulmonary venous connection
- (Q 26.4) Anomalous pulmonary venous connection, unspecified
- (Q 26.5) Anomalous portal venous connection
- (Q 26.6) Portal vein-hepatic artery fistula
- (Q26.8) Other congenital malformations of great veins
  - Scimitar syndrome
- (Q 26.9) Congenital malformation of great vein, unspecified

(Q27.) Other congenital malformations of peripheral vascular system
- (Q 27.0) Congenital absence and hypoplasia of umbilical artery
- (Q 27.1) Congenital renal artery stenosis
- (Q 27.2) Other congenital malformations of renal artery
- (Q 27.3) Peripheral arteriovenous malformation
- (Q 27.4) Congenital phlebectasia
- (Q 27.8) Other specified congenital malformations of peripheral vascular system
- (Q 27.9) Congenital malformation of peripheral vascular system, unspecified

(Q28.) Other congenital malformations of circulatory system
- (Q 28.0) Arteriovenous malformation of precerebral vessels
- (Q 28.1) Other malformations of precerebral vessels
- (Q 28.2) Arteriovenous malformation of cerebral vessels
- (Q 28.3) Other malformations of cerebral vessels
- (Q 28.8) Other specified congenital malformations of circulatory system
- (Q 28.9) Congenital malformation of circulatory system, unspecified

[edit] (Q30-Q34) respiratory system

(Q30.) [[Congenital malformations of nose
- (Q 30.0) Choanal atresia
- (Q 30.1) Agenesis and underdevelopment of nose
- (Q 30.2) Fissured, notched and cleft nose
- (Q 30.3) Congenital perforated nasal septum
- (Q 30.8) Other congenital malformations of nose
- (Q 30.9) Congenital malformation of nose, unspecified

(Q31.) Congenital malformations of larynx
- (Q 31.0) Web of larynx
- (Q 31.1) Congenital subglottic stenosis
- (Q 31.2) Laryngeal hypoplasia
- (Q 31.3) Laryngocele
- (Q 31.5) Congenital laryngomalacia
- (Q 31.8) Other congenital malformations of larynx
- (Q 31.9) Congenital malformation of larynx, unspecified

(Q32.) Congenital malformations of trachea and bronchus
- (Q 32.0) Congenital tracheomalacia
- (Q 32.1) Other congenital malformations of trachea
- (Q 32.2) Congenital bronchomalacia
- (Q 32.3) Congenital stenosis of bronchus
- (Q 32.4) Other congenital malformations of bronchus

(Q33.) Congenital malformations of lung
- (Q 33.0) Congenital cystic lung
- (Q 33.1) Accessory lobe of lung
- (Q 33.2) Sequestration of lung
- (Q 33.3) Agenesis of lung
- (Q 33.4) Congenital bronchiectasis
- (Q 33.5) Ectopic tissue in lung
- (Q 33.6) Hypoplasia and dysplasia of lung
- (Q 33.8) Other congenital malformations of lung
- (Q 33.9) Congenital malformation of lung, unspecified

(Q34.) Other congenital malformations of respiratory system
- (Q 34.0) Anomaly of pleura
- (Q 34.1) Congenital cyst of mediastinum
- (Q 34.8) Other specified congenital malformations of respiratory system
- (Q 34.9) Congenital malformation of respiratory system, unspecified

[edit] (Q35-Q45) digestive system

(Q 35.) Cleft palate

(Q 36.) Cleft lip

(Q 37.) 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
- (Q 38.1) Ankyloglossia
- (Q 38.2) Macroglossia
- (Q38.3) Other congenital malformations of tongue
- (Q 38.4) Congenital malformations of salivary glands and ducts
- (Q 38.5) Congenital malformations of palate, not elsewhere classified
- (Q 38.6) Other congenital malformations of mouth
- (Q 38.7) Pharyngeal pouch

(Q39.) Congenital malformations of oesophagus
- (Q 39.0) Atresia of oesophagus without fistula
- (Q 39.1) Atresia of oesophagus with tracheo-oesophageal fistula
- (Q 39.2) Congenital tracheo-oesophageal fistula without atresia
- (Q 39.3) Congenital stenosis and stricture of oesophagus
- (Q 39.4) Oesophageal web
- (Q 39.5) Congenital dilatation of oesophagus
- (Q 39.6) Diverticulum of oesophagus
- (Q 39.8) Other congenital malformations of oesophagus
- (Q 39.9) Congenital malformation of oesophagus, unspecified

(Q40.) Other congenital malformations of upper alimentary tract
- (Q 40.0) Congenital hypertrophic pyloric stenosis
- (Q 40.1) Congenital hiatus hernia

(Q41.) Congenital absence, atresia and stenosis of small intestine
- (Q 41.0) Congenital absence, atresia and stenosis of duodenum
- (Q 41.1) Congenital absence, atresia and stenosis of jejunum
- (Q 41.2) Congenital absence, atresia and stenosis of ileum
- (Q 41.8) Congenital absence, atresia and stenosis of other specified parts of small intestine
- (Q 41.9) Congenital absence, atresia and stenosis of small intestine, part unspecified

(Q42.) Congenital absence, atresia and stenosis of large intestine
- (Q 42.0) Congenital absence, atresia and stenosis of rectum with fistula
- (Q42.1) Congenital absence, atresia and stenosis of rectum without fistula
  - Imperforate rectum
- (Q 42.2) Congenital absence, atresia and stenosis of anus with fistula
- (Q42.3) Congenital absence, atresia and stenosis of anus without fistula
  - Imperforate anus
- (Q 42.8) Congenital absence, atresia and stenosis of other parts of large intestine
- (Q 42.9) Congenital absence, atresia and stenosis of large intestine, part unspecified

(Q43.) Other congenital malformations of intestine
- (Q 43.0) Meckel's diverticulum
- (Q 43.1) Hirschsprung's disease
- (Q 43.2) Other congenital functional disorders of colon
- (Q43.3) Congenital malformations of intestinal fixation
  - Malrotation of colon
- (Q 43.4) Duplication of intestine
- (Q 43.5) Ectopic anus
- (Q 43.6) Congenital fistula of rectum and anus
- (Q 43.7) Persistent cloaca
- (Q43.8) Other specified congenital malformations of intestine

(Q44.) Congenital malformations of gallbladder, bile ducts and liver
- (Q 44.0) Agenesis, aplasia and hypoplasia of gallbladder
- (Q 44.1) Other congenital malformations of gallbladder
- (Q 44.2) Atresia of bile ducts
- (Q 44.3) Congenital stenosis and stricture of bile ducts
- (Q 44.4) Choledochal cyst
- (Q 44.5) Other congenital malformations of bile ducts
- (Q 44.6) Cystic disease of liver
- (Q44.7) Other congenital malformations of liver
  - Accessory liver
  - Alagille's syndrome

(Q45.) Other congenital malformations of digestive system
- (Q 45.0) Agenesis, aplasia and hypoplasia of pancreas
- (Q 45.1) Annular pancreas
- (Q 45.2) Congenital pancreatic cyst
- (Q45.3) Other congenital malformations of pancreas and pancreatic duct
  - Accessory pancreas
- (Q 45.8) Other specified congenital malformations of digestive system
- (Q 45.9) Congenital malformation of digestive system, unspecified]]

[edit] (Q50-Q56) genital organs

(Q 50.) Congenital malformations of ovaries, fallopian tubes and broad ligaments
(Q51.) Congenital malformations of uterus and cervix
- (Q 51.0) Agenesis and aplasia of uterus
- (Q 51.1) Doubling of uterus with doubling of cervix and vagina
- (Q 51.2) Other doubling of uterus
- (Q 51.3) Bicornate uterus
- (Q 51.4) Unicornate uterus
- (Q 51.5) Agenesis and aplasia of cervix
- (Q 51.6) Embryonic cyst of cervix
- (Q 51.7) Congenital fistulae between uterus and digestive and urinary tracts
- (Q 51.8) Other congenital malformations of uterus and cervix
- (Q 51.9) Congenital malformation of uterus and cervix, unspecified

(Q52.) Other congenital malformations of female genitalia
- (Q 52.0) Congenital absence of vagina
- (Q 52.1) Doubling of vagina
- (Q 52.2) Congenital rectovaginal fistula
- (Q 52.3) Imperforate hymen
- (Q 52.4) Other congenital malformations of vagina
- (Q 52.5) Fusion of labia
- (Q 52.6) Congenital malformation of clitoris
- (Q 52.7) Other congenital malformations of vulva
- (Q 52.8) Other specified congenital malformations of female genitalia
- (Q 52.9) Congenital malformation of female genitalia, unspecified

(Q 53.) Undescended testicle
(Q54.) Hypospadias
- (Q 54.0) Hypospadias, balanic
- (Q 54.1) Hypospadias, penile
- (Q 54.2) Hypospadias, penoscrotal
- (Q 54.3) Hypospadias, perineal
- (Q 54.4) Congenital chordee
- (Q 54.8) Other hypospadias
- (Q 54.9) Hypospadias, unspecified

(Q55.) Other congenital malformations of male genital organs
- (Q55.0) Absence and aplasia of testis
  - Monorchism
- (Q 55.1) Hypoplasia of testis and scrotum
- (Q 55.2) Other congenital malformations of testis and scrotum
- (Q 55.3) Atresia of vas deferens
- (Q 55.4) Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostate
- (Q 55.5) Congenital absence and aplasia of penis
- (Q 55.6) Other congenital malformations of penis
- (Q 55.8) Other specified congenital malformations of male genital organs
- (Q 55.9) Congenital malformation of male genital organ, unspecified

(Q56.) Indeterminate sex and pseudohermaphroditism
- (Q 56.0) Hermaphroditism, not elsewhere classified
- (Q 56.1) Male pseudohermaphroditism, not elsewhere classified
- (Q 56.2) Female pseudohermaphroditism, not elsewhere classified
- (Q 56.3) Pseudohermaphroditism, unspecified
- (Q 56.4) Indeterminate sex, unspecified

[edit] (Q60-Q64) urinary system

(Q60.) Renal agenesis and other reduction defects of kidney
- (Q 60.0) Renal agenesis, unilateral
- (Q 60.1) Renal agenesis, bilateral
- (Q 60.2) Renal agenesis, unspecified
- (Q 60.3) Renal hypoplasia, unilateral
- (Q 60.4) Renal hypoplasia, bilateral
- (Q 60.6) Renal hypoplasia, unspecified
- (Q 60.7) Potter sequence

(Q61.) Cystic kidney disease
- (Q 61.0) Congenital single renal cyst
- (Q 61.1) Polycystic kidney, autosomal recessive
- (Q 61.2) Polycystic kidney, autosomal dominant
- (Q 61.3) Polycystic kidney, unspecified
- (Q 61.4) Renal dysplasia
- (Q 61.5) Medullary cystic kidney
- (Q 61.8) 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
- (Q 62.0) Congenital hydronephrosis
- (Q 62.1) Atresia and stenosis of ureter
- (Q 62.2) Congenital megaloureter
- (Q 62.3) Other obstructive defects of renal pelvis and ureter
- (Q 62.4) Agenesis of ureter
- (Q 62.5) Duplication of ureter
- (Q 62.6) Malposition of ureter
- (Q 62.7) Congenital vesico-uretero-renal reflux
- (Q 62.8) Other congenital malformations of ureter

(Q63.) Other congenital malformations of kidney
- (Q 63.0) Accessory kidney
- (Q 63.1) Lobulated, fused and horseshoe kidney
- (Q 63.2) Ectopic kidney
- (Q 63.3) Hyperplastic and giant kidney
- (Q 63.8) Other specified congenital malformations of kidney
- (Q 63.9) Congenital malformation of kidney, unspecified

(Q64.) Other congenital malformations of urinary system
- (Q 64.0) Epispadias
- (Q 64.1) Exstrophy of urinary bladder
- (Q 64.2) Congenital posterior urethral valves
- (Q 64.3) Other atresia and stenosis of urethra and bladder neck
- (Q64.4) Malformation of urachus
- (Q 64.5) Congenital absence of bladder and urethra
- (Q 64.6) Congenital diverticulum of bladder
- (Q 64.7) Other congenital malformations of bladder and urethra
- (Q 64.8) Other specified congenital malformations of urinary system
- (Q 64.9) Congenital malformation of urinary system, unspecified

[edit] (Q65-Q79) musculoskeletal system

(Q65.) Congenital deformities of hip
- (Q 65.0) Congenital dislocation of hip, unilateral
- (Q 65.1) Congenital dislocation of hip, bilateral
- (Q 65.2) Congenital dislocation of hip, unspecified
- (Q 65.3) Congenital subluxation of hip, unilateral
- (Q 65.4) Congenital subluxation of hip, bilateral
- (Q 65.5) Congenital subluxation of hip, unspecified
- (Q 65.6) Unstable hip
- (Q 65.8) Other congenital deformities of hip
- (Q 65.9) Congenital deformity of hip, unspecified

(Q66.) Congenital deformities of feet
- (Q 66.0) Talipes equinovarus
- (Q 66.1) Talipes calcaneovarus
- (Q 66.2) Metatarsus varus
- (Q 66.3) Other congenital varus deformities of feet
- (Q 66.4) Talipes calcaneovalgus
- (Q 66.5) Congenital pes planus
- (Q 66.6) Other congenital valgus deformities of feet
- (Q 66.7) Pes cavus
- (Q 66.8) Other congenital deformities of feet
- (Q 66.9) Congenital deformity of feet, unspecified

(Q67.) Congenital musculoskeletal deformities of head, face, spine and chest
- (Q 67.0) Facial asymmetry
- (Q 67.1) Compression facies
- (Q 67.2) Dolichocephaly
- (Q 67.3) Plagiocephaly
- (Q 67.4) Other congenital deformities of skull, face and jaw
- (Q 67.5) Congenital deformity of spine
- (Q 67.6) Pectus excavatum
- (Q 67.7) Pectus carinatum
- (Q 67.8) Other congenital deformities of chest

(Q68.) Other congenital musculoskeletal deformities
- (Q 68.0) Congenital deformity of sternocleidomastoid muscle
- (Q 68.1) Congenital deformity of hand
- (Q 68.2) Congenital deformity of knee
- (Q 68.3) Congenital bowing of femur
- (Q 68.4) Congenital bowing of tibia and fibula
- (Q 68.5) Congenital bowing of long bones of leg, unspecified
- (Q 68.8) Other specified congenital musculoskeletal deformities

(Q69.) Polydactyly
- (Q 69.0) Accessory finger(s)
- (Q 69.1) Accessory thumb(s)
- (Q 69.2) Accessory toe(s)
- (Q 69.9) Polydactyly, unspecified

(Q70.) Syndactyly
- (Q 70.0) Fused fingers
- (Q 70.1) Webbed fingers
- (Q 70.2) Fused toes
- (Q 70.3) Webbed toes
- (Q 70.4) Polysyndactyly
- (Q 70.9) Syndactyly, unspecified

(Q71.) Reduction defects of upper limb
- (Q 71.0) Congenital complete absence of upper limb(s)
- (Q 71.1) Congenital absence of upper arm and forearm with hand present
- (Q 71.2) Congenital absence of both forearm and hand
- (Q 71.3) Congenital absence of hand and finger(s)
- (Q 71.4) Longitudinal reduction defect of radius
- (Q 71.5) Longitudinal reduction defect of ulna
- (Q 71.6) Lobster-claw hand
- (Q 71.8) Other reduction defects of upper limb(s)
- (Q 71.9) Reduction defect of upper limb, unspecified

(Q72.) Reduction defects of lower limb
- (Q 72.0) Congenital complete absence of lower limb(s)
- (Q 72.1) Congenital absence of thigh and lower leg with foot present
- (Q 72.2) Congenital absence of both lower leg and foot
- (Q 72.3) Congenital absence of foot and toe(s)
- (Q 72.4) Longitudinal reduction defect of femur
- (Q 72.5) Longitudinal reduction defect of tibia
- (Q 72.6) Longitudinal reduction defect of fibula
- (Q 72.7) Split foot
- (Q 72.8) Other reduction defects of lower limb(s)
- (Q 72.9) Reduction defect of lower limb, unspecified

(Q73.) Reduction defects of unspecified limb
- (Q73.0) Congenital absence of unspecified limb(s)
  - Amelia NOS
- (Q 73.1) 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
- (Q74.1) Congenital malformation of knee
  - genu valgum
  - genu varum
- (Q 74.2) Other congenital malformations of lower limb(s), including pelvic girdle
- (Q 74.3) Arthrogryposis multiplex congenita
- (Q 74.8) Other specified congenital malformations of limb(s)
- (Q 74.9) Unspecified congenital malformation of limb(s)

(Q75.) Other congenital malformations of skull and face bones
- (Q75.0) Craniosynostosis
- (Q75.1) Craniofacial dysostosis
  - Crouzon's disease
- (Q 75.2) Hypertelorism
- (Q 75.3) Macrocephaly
- (Q75.4) Mandibulofacial dysostosis
  - Franceschetti syndrome
  - Treacher-Collins syndrome
- (Q 75.5) Oculomandibular dysostosis
- (Q75.8) Other specified congenital malformations of skull and face bones
  - Absence of skull bone, congenital
  - Congenital deformity of forehead
  - Platybasia
- (Q 75.9) Congenital malformation of skull and face bones, unspecified

(Q76.) Congenital malformations of spine and bony thorax
- (Q 76.0) Spina bifida occulta
- (Q 76.1) Klippel-Feil syndrome
- (Q 76.2) Congenital spondylolisthesis
- (Q 76.3) Congenital scoliosis due to congenital bony malformation
- (Q 76.4) Other congenital malformations of spine, not associated with scoliosis
- (Q 76.5) Cervical rib
- (Q 76.6) Other congenital malformations of ribs
- (Q76.7) Congenital malformation of sternum
  - Congenital absence of sternum
  - Sternum bifidum
- (Q 76.8) Other congenital malformations of bony thorax
- (Q 76.9) Congenital malformation of bony thorax, unspecified

(Q77.) Osteochondrodysplasia with defects of growth of tubular bones and spine
- (Q77.0) Achondrogenesis
  - Hypochondrogenesis
- (Q 77.1) Thanatophoric short stature
- (Q77.2) Short rib syndrome
  - Asphyxiating thoracic dysplasia (Jeune)
- (Q 77.3) Chondrodysplasia punctata
- (Q77.4) Achondroplasia
  - Hypochondroplasia
  - Osteosclerosis congenita
- (Q 77.5) Dystrophic dysplasia
- (Q77.6) Chondroectodermal dysplasia
  - Ellis-van Creveld syndrome
- (Q 77.7) Spondyloepiphyseal dysplasia
- (Q 77.8) Other osteochondrodysplasia with defects of growth of tubular bones and spine
- (Q 77.9) 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
- (Q 79.0) Congenital diaphragmatic hernia
- (Q 79.1) Other congenital malformations of diaphragm
- (Q79.2) Exomphalos
  - Omphalocele
- (Q 79.3) Gastroschisis
- (Q 79.4) Prune belly syndrome
- (Q 79.5) Other congenital malformations of abdominal wall
- (Q 79.6) Ehlers-Danlos syndrome
- (Q79.8) Other congenital malformations of musculoskeletal system
- (Q 79.9) Congenital malformation of musculoskeletal system, unspecified

[edit] (Q80-Q89) Other

(Q80.) Congenital ichthyosis
- (Q 80.0) Ichthyosis vulgaris
- (Q 80.1) X-linked ichthyosis
- (Q 80.2) Lamellar ichthyosis
- (Q 80.3) Congenital bullous ichthyosiform erythroderma
- (Q 80.4) Harlequin fetus
- (Q 80.8) Other congenital ichthyosis
- (Q 80.9) Congenital ichthyosis, unspecified

(Q81.) Epidermolysis bullosa
- (Q 81.0) Epidermolysis bullosa simplex
- (Q 81.1) Epidermolysis bullosa letalis
- (Q 81.2) Epidermolysis bullosa dystrophica
- (Q 81.8) Other epidermolysis bullosa
- (Q 81.9) Epidermolysis bullosa, unspecified

(Q82.) Other congenital malformations of skin
- (Q 82.0) Hereditary lymphoedema
- (Q 82.1) Xeroderma pigmentosum
- (Q82.2) Mastocytosis
  - Urticaria pigmentosa
- (Q 82.3) Incontinentia pigmenti
- (Q 82.4) 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)
- (Q 82.9) Congenital malformation of skin, unspecified

(Q83.) Congenital malformations of breast
- (Q 83.0) Congenital absence of breast with absent nipple
- (Q 83.1) Accessory breast
- (Q 83.2) Absent nipple
- (Q83.3) Accessory nipple
  - Supernumerary nipple
- (Q83.8) Other congenital malformations of breast
  - Hypoplasia of breast
- (Q 83.9) Congenital malformation of breast, unspecified

(Q84.) Other congenital malformations of integument
- (Q 84.0) Congenital alopecia
- (Q84.1) Congenital morphological disturbances of hair, not elsewhere classified
  - Beaded hair
  - Monilethrix
  - Pili annulati
  - Trichothiodystrophy (ILDS Q84.169)
- (Q 84.2) Other congenital malformations of hair
- (Q 84.3) Anonychia
- (Q 84.4) Congenital leukonychia
- (Q84.5) Enlarged and hypertrophic nails
  - Congenital onychauxis
  - Pachyonychia
- (Q 84.6) Other congenital malformations of nails
- (Q 84.8) Other specified congenital malformations of integument
- (Q 84.9) 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
- (Q 86.0) Fetal alcohol syndrome (dysmorphic)
- (Q86.1) Fetal hydantoin syndrome
  - Meadow's syndrome
- (Q 86.2) Dysmorphism due to warfarin
- (Q 86.3) 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

- (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
- (Q 87.4) Marfan's syndrome
- (Q 87.5) 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
- (Q 89.1) Congenital malformations of adrenal gland
- (Q89.2) Congenital malformations of other endocrine glands
- (Q 89.3) Situs inversus
- (Q 89.4) Conjoined twins
- (Q 89.7) Multiple congenital malformations, not elsewhere classified
- (Q 89.8) Other specified congenital malformations
- (Q 89.9) Congenital malformation, unspecified

[edit] Q90-Q99 - Chromosomal abnormalities, not elsewhere classified

(Q90.) Down's syndrome
- (Q 90.0) Trisomy 21, meiotic nondisjunction
- (Q 90.1) Trisomy 21, mosaicism (mitotic nondisjunction)
- (Q 90.2) Trisomy 21, translocation
- (Q 90.9) Down's syndrome, unspecified

(Q91.) Trisomy 18 and Trisomy 13
- (Q 91.0) Trisomy 18, meiotic nondisjunction
- (Q 91.1) Trisomy 18, mosaicism (mitotic nondisjunction)
- (Q 91.2) Trisomy 18, translocation
- (Q 91.3) Edwards' syndrome, unspecified
- (Q 91.4) Trisomy 13, meiotic nondisjunction
- (Q 91.5) Trisomy 13, mosaicism (mitotic nondisjunction)
- (Q 91.6) Trisomy 13, translocation
- (Q 91.7) Patau's syndrome, unspecified

(Q92.) Other trisomies and partial trisomies of the autosomes, not elsewhere classified
- Trisomy 9
- Warkany syndrome 2
- (Q 92.0) Whole chromosome trisomy, meiotic nondisjunction
- (Q 92.1) Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
- (Q 92.2) Major partial trisomy
- (Q 92.3) Minor partial trisomy
- (Q 92.4) Duplications seen only at prometaphase
- (Q 92.5) Duplications with other complex rearrangements
- (Q 92.6) Extra marker chromosomes
- (Q 92.7) Triploidy and polyploidy
- (Q 92.8) Other specified trisomies and partial trisomies of autosomes
- (Q 92.9) Trisomy and partial trisomy of autosomes, unspecified

(Q93.) Monosomies and deletions from the autosomes, not elsewhere classified
- (Q 93.0) Whole chromosome monosomy, meiotic nondisjunction
- (Q 93.1) Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
- (Q 93.2) 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
- (Q 93.6) Deletion seen only at prometaphase
- (Q 93.7) Deletions with other complex rearrangements
- (Q 93.8) Other deletions from the autosomes
- (Q 93.9) Deletion from autosomes, unspecified

(Q95.) Balanced rearrangements and structural markers, not elsewhere classified
- Robertsonian and balanced reciprocal translocations and insertions
- (Q 95.0) Balanced translocation and insertion in normal individual
- (Q 95.1) Chromosome inversion in normal individual
- (Q 95.2) Balanced autosomal rearrangement in abnormal individual
- (Q 95.3) Balanced sex/autosomal rearrangement in abnormal individual
- (Q 95.4) Individuals with marker heterochromatin
- (Q 95.5) Individuals with autosomal fragile site
- (Q 95.8) Other balanced rearrangements and structural markers
- (Q 95.9) Balanced rearrangement and structural marker, unspecified

(Q96.) Turner syndrome
- (Q 96.0) Karyotype 45,X
- (Q 96.1) Karyotype 46,X iso (Xq)
- (Q 96.2) Karyotype 46,X with abnormal sex chromosome, except iso (Xq)
- (Q 96.3) Mosaicism, 45,X/46,XX or XY
- (Q 96.4) Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome
- (Q 96.8) Other variants of Turner's syndrome
- (Q 96.9) Turner's syndrome, unspecified

(Q97.) Other sex chromosome abnormalities, female phenotype, not elsewhere classified
- (Q 97.0) Karyotype 47,XXX
- (Q 97.1) Female with more than three X chromosomes
- (Q 97.2) Mosaicism, lines with various numbers of X chromosomes
- (Q 97.3) Female with 46,XY karyotype
- (Q 97.8) Other specified sex chromosome abnormalities, female phenotype
- (Q 97.9) Sex chromosome abnormality, female phenotype, unspecified

(Q98.) Other sex chromosome abnormalities, male phenotype, not elsewhere classified
- (Q 98.0) Klinefelter's syndrome karyotype 47,XXY
- (Q 98.1) Klinefelter's syndrome, male with more than two X chromosomes
- (Q 98.2) Klinefelter's syndrome, male with 46,XX karyotype
- (Q 98.3) Other male with 46,XX karyotype
- (Q 98.4) Klinefelter's syndrome, unspecified
- (Q 98.5) Karyotype 47,XYY
- (Q 98.6) Male with structurally abnormal sex chromosome
- (Q 98.7) Male with sex chromosome mosaicism
- (Q 98.8) Other specified sex chromosome abnormalities, male phenotype
- (Q 98.9) Sex chromosome abnormality, male phenotype, unspecified

(Q99.) Other chromosome abnormalities, not elsewhere classified
- (Q 99.0) Chimera 46,XX/46,XY
- (Q99.1) 46,XX true hermaphrodite
- (Q99.2) Fragile X chromosome
  - Fragile X syndrome
- (Q 99.8) Other specified chromosome abnormalities
- (Q 99.9) Chromosomal abnormality, unspecified

[edit] See also

Pathology: Medical conditions (Diseases/Disorders/Illness, Syndromes/Sequences, Symptoms/Signs, Injuries, etc.) and ICD codes

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

Endocrine disease · Nutrition disorder · Inborn error of metabolism

Mental disorder

Nervous system disease (CNS, PNS) · Neuromuscular disease

Eye disease · Ear disease

Cardiovascular disease (Heart disease, Vascular disease)

Respiratory disease (Obstructive lung disease, Restrictive lung disease, Pneumonia)

Stomatognathic disease (Tooth disease) · Digestive disease (Esophageal, Stomach, Enteropathy, Liver, Pancreatic)

Skin disease · skin appendages (Nail disease, Hair disease, Sweat gland disease)

Musculoskeletal disorders · Osteochondropathy (Osteopathy, Chondropathy)

Urologic disease (Nephropathy, Urinary bladder disease) · Male genital disease · Breast disease · Female genital disease

Complications of pregnancy · Obstetric labor complication · Puerperal disorder

Congenital disorder

Syndromes · Medical signs (Eponymous)

Bone fracture · Joint dislocation · Sprain · Strain · subluxation · Head injury · Chest trauma · Poisoning

Congenital malformations and deformations of nervous system (Q00-Q07, 740-742)

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)

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

Congenital malformations and deformations of eyes (Q10-Q15, 743)

Eyelid	Ptosis · Ectropion · Entropion · Distichia · Blepharophimosis · Ablepharon · Marcus Gunn phenomenon

Lacrimal apparatus	Congenital lacrimal duct obstruction

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

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

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

Congenital malformations and deformations of respiratory system (Q30-Q34, 748)

Nose	Choanal atresia

Larynx	Laryngocele - Laryngomalacia

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

Congenital malformations and deformations of digestive system (Q35-Q45, 749-751)

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

Intestines	Intestinal atresia (Duodenal atresia) · Meckel's diverticulum · Hirschsprung's disease · Intestinal malrotation · Dolichocolon · Enteric duplication cyst

Rectum/anus	Imperforate anus · Persistent cloaca

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

Congenital malformations and deformations of sex organs (Q50-Q56 · 752)

Uterine malformation	Müllerian agenesis · Unicornuate uterus · Uterus didelphys · Bicornuate uterus · Uterine septum · Arcuate uterus

Other	Vaginal septum · Clitoromegaly

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

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

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

urinary system navs: anat/physio/dev, noncongen/acid+base/congen/neoplasia, symptoms+signs/eponymous, proc

Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality (Q65-Q76, 754-756.3)

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

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

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)

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

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

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

Congenital endocrine disease (Q89.1-Q89.2, 759.1-759.2)

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

Pathology: chromosome abnormalities (Q90-Q99 · 758)

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

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

Retrieved from "http://en.wikipedia.org/wiki/ICD-10_Chapter_XVII:_Congenital_malformations,_deformations_and_chromosomal_abnormalities"

Categories: Musculoskeletal disorders | Congenital disorders | Skeletal disorders | Hematology | Medical manuals

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