ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities
This is a shortened version of the seventeenth chapter of the ICD-10: Congenital malformations, deformations and chromosomal abnormalities. It covers ICD codes Q00.0 to Q99.9. All versions of the ICD-10, including the most recent one (2019), can be browsed freely on the website of the World Health Organisation (WHO). The ICD-10 can also be downloaded in PDF-form.
Chapter | Block | Title |
---|---|---|
I | A00–B99 | Certain infectious and parasitic diseases |
II | C00–D48 | Neoplasms |
III | D50–D89 | Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism |
IV | E00–E90 | Endocrine, nutritional and metabolic diseases |
V | F00–F99 | Mental and behavioural disorders |
VI | G00–G99 | Diseases of the nervous system |
VII | H00–H59 | Diseases of the eye and adnexa |
VIII | H60–H95 | Diseases of the ear and mastoid process |
IX | I00–I99 | Diseases of the circulatory system |
X | J00–J99 | Diseases of the respiratory system |
XI | K00–K93 | Diseases of the digestive system |
XII | L00–L99 | Diseases of the skin and subcutaneous tissue |
XIII | M00–M99 | Diseases of the musculoskeletal system and connective tissue |
XIV | N00–N99 | Diseases of the genitourinary system |
XV | O00–O99 | Pregnancy, childbirth and the puerperium |
XVI | P00–P96 | Certain conditions originating in the perinatal period |
XVII | Q00–Q99 | Congenital malformations, deformations and chromosomal abnormalities |
XVIII | R00–R99 | Symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified |
XIX | S00–T98 | Injury, poisoning and certain other consequences of external causes |
XX | V01–Y98 | External causes of morbidity and mortality |
XXI | Z00–Z99 | Factors influencing health status and contact with health services |
XXII | U00–U99 | Codes for special purposes |
Congenital malformations, deformations and chromosomal abnormalities are collectively known as birth defects. Examples of such conditions, as listed in Chapter XVII, are microcephaly, congenital absence of kidney, and Down syndrome.
Nervous system (Q00–Q07)
- Q00 Anencephaly and similar malformations
- Q01 Encephalocele
- Q02 Microcephaly
- Q03 Congenital hydrocephalus
- 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
- 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, ear, face and neck (Q10–Q18)
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
- Q13 Congenital malformations of anterior segment of eye
- Q13.0 Coloboma of iris
- Q13.1 Absence of iris
- 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
- Q14.3 Congenital malformation of choroid
- Q14.8 Other congenital malformations of posterior segment of eye
- Q14.9 Congenital malformation of posterior segment of eye, unspecified
- Q15 Other congenital malformations of eye
- Q15.0 Congenital glaucoma
- Buphthalmos
- Glaucoma of newborn
- Hydrophthalmos
- Keratoglobus, congenital, with glaucoma
- Macrocornea with glaucoma
- Macrophthalmos in congenital glaucoma
- Megalocornea with glaucoma
- Q15.0 Congenital glaucoma
Ear
- Q16 Congenital malformations of ear causing impairment of hearing
- Q17 Other congenital malformations of ear
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
- 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
Circulatory system (Q20–Q28)
- Q20 Congenital malformations of cardiac chambers and connections
- Q20.0 Common arterial trunk
- Q20.1 Double outlet right ventricle
- 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
- 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
- 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
- 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
Respiratory system (Q30–Q34)
- 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
Digestive system (Q35–Q45)
- 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
- Q38.0 Congenital malformations of lips, not elsewhere classified
- 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
- 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
- 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 syndrome
- Q45 Other congenital malformations of digestive system
- Q45.0 Agenesis, aplasia and hypoplasia of pancreas
- Q45.1 Annular pancreas
- Q45.2 Congenital pancreatic cyst
- Q45.3 Other congenital malformations of pancreas and pancreatic duct
- Q45.8 Other specified congenital malformations of digestive system
- Q45.9 Congenital malformation of digestive system, unspecified
Genital organs (Q50–Q56)
- 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
- 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
Urinary system (Q60–Q64)
- 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
- 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
Musculoskeletal system (Q65–Q79)
- 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
- Q73.0 Congenital absence of unspecified limb(s)
- Q74 Other congenital malformations of limb(s)
- Q74.0 Other congenital malformations of upper limb(s), including shoulder girdle
- Accessory carpal bones
- Cleidocranial dysostosis
- Congenital pseudarthrosis of clavicle
- Macrodactylia (fingers)
- Madelung's deformity
- Radioulnar synostosis
- Sprengel's deformity
- Triphalangeal thumb
- Q74.1 Congenital malformation of knee
- Q74.2 Other congenital malformations of lower limb(s), including pelvic girdle
- Q74.3 Arthrogryposis multiplex congenita
- Q74.8 Other specified congenital malformations of limb(s)
- Q74.9 Unspecified congenital malformation of limb(s)
- Q74.0 Other congenital malformations of upper limb(s), including shoulder girdle
- 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
- Q75.0 Craniosynostosis
- Q76 Congenital malformations of spine and bony thorax
- Q76.0 Spina bifida occulta
- Q76.1 Klippel–Feil syndrome
- Q76.2 Congenital spondylolisthesis
- Q76.3 Congenital scoliosis due to congenital bony malformation
- Q76.4 Other congenital malformations of spine, not associated with scoliosis
- Q76.5 Cervical rib
- Q76.6 Other congenital malformations of ribs
- Q76.7 Congenital malformation of sternum
- Congenital absence of sternum
- Sternum bifidum
- Q76.8 Other congenital malformations of bony thorax
- Q76.9 Congenital malformation of bony thorax, unspecified
- Q77 Osteochondrodysplasia with defects of growth of tubular bones and spine
- Q77.0 Achondrogenesis
- Q77.1 Thanatophoric short stature
- Q77.2 Short rib syndrome
- Asphyxiating thoracic dysplasia (Jeune)
- Q77.3 Chondrodysplasia punctata
- Q77.4 Achondroplasia
- Hypochondroplasia
- Osteosclerosis congenita
- Q77.5 Diastrophic dysplasia
- Q77.6 Chondroectodermal dysplasia
- 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
- Q78.2 Osteopetrosis
- Albers-Schönberg syndrome
- Q78.3 Progressive diaphyseal dysplasia
- Camurati–Engelmann syndrome
- Q78.4 Enchondromatosis
- Q78.5 Metaphyseal dysplasia
- Pyle's syndrome
- Q78.6 Multiple congenital exostoses
- Diaphyseal aclasis
- Q78.8 Other specified osteochondrodysplasias
- Q78.9 Osteochondrodysplasia, unspecified
- Chondrodystrophy NOS
- Osteodystrophy NOS
- Q78.0 Osteogenesis imperfecta
- 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
- 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 syndrome
- Q79.9 Congenital malformation of musculoskeletal system, unspecified
Other (Q80–Q89)
- 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
- Q82 Other congenital malformations of skin
- Q82.0 Hereditary lymphoedema
- Q82.1 Xeroderma pigmentosum
- Q82.2 Mastocytosis
- 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 ski], unspecified
- Q83 Congenital malformations of breast
- 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)
- 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
- Möbius 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 syndrome (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
- Q87.4 Marfan 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 syndrome (EUROCAT Q87.83)
- Williams syndrome (EUROCAT Q87.84)
- Angelman syndrome (Happy puppet syndrome) (EUROCAT Q87.85)
- Snyder–Robinson syndrome
- Q87.0 Congenital malformation syndromes predominantly affecting facial appearance
- Q89 Other congenital malformations, not elsewhere classified
- Q89.0 Congenital malformations of spleen
- Asplenia (congenital)
- Congenital splenomegaly
- Q89.1 Congenital malformations of adrenal gland
- Q89.2 Congenital malformations of other endocrine glands
- Congenital malformation of parathyroid or thyroid gland
- Persistent thyroglossal duct
- Thyroglossal cyst
- Q89.3 Situs inversus
- Q89.4 Conjoined twins
- Q89.7 Multiple congenital malformations, not elsewhere classified
- Q89.8 Other specified congenital malformations
- Q89.9 Congenital malformation, unspecified
- Q89.0 Congenital malformations of spleen
Chromosomal abnormalities, not elsewhere classified (Q90–Q99)
- Q90 Down syndrome
- Q90.0 Trisomy 21, meiotic nondisjunction
- Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction)
- Q90.2 Trisomy 21, translocation
- Q90.9 Down 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 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
- Q93.4 Deletion of short arm of chromosome 5
- Cri-du-chat syndrome
- Q93.5 Other deletions of part of a chromosome
- 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 syndrome
- Q96.9 Turner 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 syndrome karyotype 47,XXY
- Q98.1 Klinefelter syndrome, male with more than two X chromosomes
- Q98.2 Klinefelter syndrome, male with 46,XX karyotype
- Q98.3 Other male with 46,XX karyotype – XX male syndrome
- Q98.4 Klinefelter 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
Excludes
- Inborn errors of metabolism (E70-E88)
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