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

(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

Eye

(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

Ear

(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

Other face and neck

(Q18) Other congenital malformations of face and neck

(Q18.0) Sinus, fistula and cyst of branchial cleft

(Q18.1) Preauricular sinus and cyst

(Q18.2) Other branchial cleft malformations

Otocephaly

(Q18.3) Webbing of neck

(Q18.4) Macrostomia

(Q18.5) Microstomia

(Q18.6) Macrocheilia

(Q18.7) Microcheilia

(Q18.8) Other specified congenital malformations of face and neck

(Q18.9) Congenital malformation of face and neck, unspecified

(Q20–Q28) circulatory system

(Q20) Congenital malformations of cardiac chambers and connections

(Q20.0) Common arterial trunk

Persistent truncus arteriosus

(Q20.1) Double outlet right ventricle

Taussig-Bing syndrome

(Q20.2) Double outlet left ventricle

(Q20.3) Discordant ventriculoarterial connection

Dextrotransposition of aorta

Transposition of great vessels (complete)

(Q20.4) Double inlet ventricle

(Q20.5) Discordant atrioventricular connection

Corrected transposition

(Q20.6) Isomerism of atrial appendages

(Q21) Congenital malformations of cardiac septa

(Q21.0) Ventricular septal defect

(Q21.1) Atrial septal defect

(Q21.2) Atrioventricular septal defect

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

(Q30–Q34) respiratory system

(Q30) [[Congenital malformations of nose

(Q30.0) Choanal atresia

(Q30.1) Agenesis and underdevelopment of nose

(Q30.2) Fissured, notched and cleft nose

(Q30.3) Congenital perforated nasal septum

(Q30.8) Other congenital malformations of nose

(Q30.9) Congenital malformation of nose, unspecified

(Q31) Congenital malformations of larynx

(Q31.0) Web of larynx

(Q31.1) Congenital subglottic stenosis

(Q31.2) Laryngeal hypoplasia

(Q31.3) Laryngocele

(Q31.5) Congenital laryngomalacia

(Q31.8) Other congenital malformations of larynx

(Q31.9) Congenital malformation of larynx, unspecified

(Q32) Congenital malformations of trachea and bronchus

(Q32.0) Congenital tracheomalacia

(Q32.1) Other congenital malformations of trachea

(Q32.2) Congenital bronchomalacia

(Q32.3) Congenital stenosis of bronchus

(Q32.4) Other congenital malformations of bronchus

(Q33) Congenital malformations of lung

(Q33.0) Congenital cystic lung

(Q33.1) Accessory lobe of lung

(Q33.2) Sequestration of lung

(Q33.3) Agenesis of lung

(Q33.4) Congenital bronchiectasis

(Q33.5) Ectopic tissue in lung

(Q33.6) Hypoplasia and dysplasia of lung

(Q33.8) Other congenital malformations of lung

(Q33.9) Congenital malformation of lung, unspecified

(Q34) Other congenital malformations of respiratory system

(Q34.0) Anomaly of pleura

(Q34.1) Congenital cyst of mediastinum

(Q34.8) Other specified congenital malformations of respiratory system

(Q34.9) Congenital malformation of respiratory system, unspecified

(Q35–Q45) digestive system

(Q35) Cleft palate

(Q36) Cleft lip

(Q37) Cleft palate with cleft lip

(Q38) Other congenital malformations of tongue, mouth and pharynx

(Q38.0) Congenital malformations of lips, not elsewhere classified

Van der Woude's syndrome

(Q38.1) Ankyloglossia

(Q38.2) Macroglossia

(Q38.3) Other congenital malformations of tongue

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]]

(Q50–Q56) genital organs

(Q50) Congenital malformations of ovaries, fallopian tubes and broad ligaments

(Q51) Congenital malformations of uterus and cervix

(Q51.0) Agenesis and aplasia of uterus

(Q51.1) Doubling of uterus with doubling of cervix and vagina

(Q51.2) Other doubling of uterus

(Q51.3) Bicornate uterus

(Q51.4) Unicornate uterus

(Q51.5) Agenesis and aplasia of cervix

(Q51.6) Embryonic cyst of cervix

(Q51.7) Congenital fistulae between uterus and digestive and urinary tracts

(Q51.8) Other congenital malformations of uterus and cervix

(Q51.9) Congenital malformation of uterus and cervix, unspecified

(Q52) Other congenital malformations of female genitalia

(Q52.0) Congenital absence of vagina

(Q52.1) Doubling of vagina

(Q52.2) Congenital rectovaginal fistula

(Q52.3) Imperforate hymen

(Q52.4) Other congenital malformations of vagina

(Q52.5) Fusion of labia

(Q52.6) Congenital malformation of clitoris

(Q52.7) Other congenital malformations of vulva

(Q52.8) Other specified congenital malformations of female genitalia

(Q52.9) Congenital malformation of female genitalia, unspecified

(Q53) Undescended testicle

(Q54) Hypospadias

(Q54.0) Hypospadias, balanic

(Q54.1) Hypospadias, penile

(Q54.2) Hypospadias, penoscrotal

(Q54.3) Hypospadias, perineal

(Q54.4) Congenital chordee

(Q54.8) Other hypospadias

(Q54.9) Hypospadias, unspecified

(Q55) Other congenital malformations of male genital organs

(Q55.0) Absence and aplasia of testis

Monorchism

(Q55.1) Hypoplasia of testis and scrotum

(Q55.2) Other congenital malformations of testis and scrotum

(Q55.3) Atresia of vas deferens

(Q55.4) Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostate

(Q55.5) Congenital absence and aplasia of penis

(Q55.6) Other congenital malformations of penis

(Q55.8) Other specified congenital malformations of male genital organs

(Q55.9) Congenital malformation of male genital organ, unspecified

(Q56) Indeterminate sex and pseudohermaphroditism

(Q56.0) Hermaphroditism, not elsewhere classified

(Q56.1) Male pseudohermaphroditism, not elsewhere classified

(Q56.2) Female pseudohermaphroditism, not elsewhere classified

(Q56.3) Pseudohermaphroditism, unspecified

(Q56.4) Indeterminate sex, unspecified

(Q60–Q64) urinary system

(Q60) Renal agenesis and other reduction defects of kidney

(Q60.0) Renal agenesis, unilateral

(Q60.1) Renal agenesis, bilateral

(Q60.2) Renal agenesis, unspecified

(Q60.3) Renal hypoplasia, unilateral

(Q60.4) Renal hypoplasia, bilateral

(Q60.6) Renal hypoplasia, unspecified

(Q60.7) Potter 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

(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) Diastrophic 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

(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

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 – XX male syndrome

(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

Excludes

Inborn errors of metabolism (E70-E88)