ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities
Additional recommended knowledge
Q00-Q89 - Congenital malformations and deformations
- (Q04.) Other congenital malformations of brain
(Q10-Q18) eye, ear, face and neck
- (Q10.) Congenital malformations of eyelid, lacrimal apparatus and orbit
- (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
- (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
- (Q16.) Congenital malformations of ear causing impairment of hearing
- (Q17.) Other congenital malformations of ear
- (Q17.0) Accessory auricle
- (Q17.1) Macrotia
- (Q17.2) Microtia
- (Q17.3) Other misshapen ear
- (Q17.4) Misplaced ear
- (Q17.5) Prominent ear
- (Q17.8) Other specified congenital malformations of ear
- (Q17.9) Congenital malformation of ear, unspecified
- (Q18.) Other congenital malformations of face and neck
- (Q18.0) Sinus, fistula and cyst of branchial cleft
- (Q18.1) Preauricular sinus and cyst
- (Q18.2) Other branchial cleft malformations
- (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.) Congenital malformations of cardiac chambers and connections
- (Q20.0) Common arterial trunk
- Persistent truncus arteriosus
- (Q20.1) Double outlet right ventricle
- (Q20.2) Double outlet left ventricle
- (Q20.3) Discordant ventriculoarterial connection
- (Q20.4) Double inlet ventricle
- (Q20.5) Discordant atrioventricular connection
- (Q20.6) Isomerism of atrial appendages
- (Q21.) Congenital malformations of cardiac septa
- (Q22.) Congenital malformations of pulmonary and tricuspid valves
- (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
- (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
- (Q37.) Cleft palate with cleft lip
- (Q43.) Other congenital malformations of intestine
- (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
(Q65-Q79) musculoskeletal system
- (Q67.) Congenital musculoskeletal deformities of head, face, spine and chest
- (Q69.) Polydactyly
- (Q69.0) Accessory finger(s)
- (Q69.1) Accessory thumb(s)
- (Q69.2) Accessory toe(s)
- (Q69.9) Polydactyly, unspecified
- (Q71.) Reduction defects of upper limb
- (Q73.) Reduction defects of unspecified limb
- (Q73.0) Congenital absence of unspecified limb(s)
- (Q73.1) Phocomelia, unspecified limb(s)
- (Q73.8) Other reduction defects of unspecified limb(s)
- (Q74.) Other congenital malformations of limb(s)
- (Q75.) Other congenital malformations of skull and face bones
- (Q76.) Congenital malformations of spine and bony thorax
- (Q79.) Congenital malformations of the musculoskeletal system, not elsewhere classified
(Q80-Q89) Other
- (Q86.) Congenital malformation syndromes due to known exogenous causes, not elsewhere classified
- (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
- (Q87.2) Congenital malformation syndromes predominantly involving limbs
- (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
- (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
- (Q98.) Other sex chromosome abnormalities, male phenotype, not elsewhere classified
- (Q98.0) Klinefelter's syndrome karyotype 47,XXY
- (Q98.1) Klinefelter's syndrome, male with more than two X chromosomes
- (Q98.2) Klinefelter's syndrome, male with 46,XX karyotype
- (Q98.3) Other male with 46,XX karyotype
- (Q98.4) Klinefelter's syndrome, unspecified
- (Q98.5) Karyotype 47,XYY
- (Q98.6) Male with structurally abnormal sex chromosome
- (Q98.7) Male with sex chromosome mosaicism
- (Q98.8) Other specified sex chromosome abnormalities, male phenotype
- (Q98.9) Sex chromosome abnormality, male phenotype, unspecified
See also
Congenital malformations and deformations of circulatory system (Q20-Q28, 745-747) |
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Cardiac chambers and connections | Persistent truncus arteriosus - Double outlet right ventricle (Taussig-Bing syndrome) - Transposition of the great vessels (dextro, levo) |
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Cardiac septa | Ventricular septal defect - Atrial septal defect (Lutembacher's syndrome) - Atrioventricular septal defect (Ostium primum) - Tetralogy of Fallot - Eisenmenger's syndrome |
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Right: pulmonary and tricuspid valves | pulmonary valves (stenosis, insufficiency) - tricuspid valves (stenosis, atresia) - Ebstein's anomaly |
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Left: aortic and mitral valves | aortic valves (stenosis, insufficiency, bicuspid) - mitral valves (stenosis, regurgitation) - Hypoplastic left heart syndrome |
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Other congenital malformations of heart | Dextrocardia - Levocardia - Cor triatriatum |
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Great arteries | aorta (Patent ductus arteriosus, Aortic coarctation, Interrupted aortic arch, Overriding aorta, Aneurysm of sinus of Valsalva, Vascular ring) - Pulmonary atresia |
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Great veins | Persistent left superior vena cava - Total anomalous pulmonary venous connection - Scimitar syndrome |
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Other | Arteriovenous malformation (Cerebral arteriovenous malformation) |
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See also non-congenital conditions (I, 390-459) |
Congenital malformations and deformations of musculoskeletal system (Q65-Q79, 754-756) |
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Limbs | hip: Dislocation of hip/Hip dysplasia
feet (Club foot, Flat feet, Pes cavus)
head, face, spine and chest: skull, face and jaw (Dolichocephaly, Plagiocephaly) - Scoliosis - chest (Pectus excavatum, Pectus carinatum)
Polydactyly/Syndactyly (Webbed toes)
reduction deficits (Ectrodactyly, Amelia, Phocomelia)
upper limb (Cleidocranial dysostosis, Madelung's deformity, Sprengel's deformity)
knee (Genu valgum, Genu varum)
Arthrogryposis |
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Skull and face bones | Craniosynostosis (Scaphocephaly) - Trigonocephaly - Oxycephaly - Crouzon syndrome - Hypertelorism - Macrocephaly - Treacher Collins syndrome - Platybasia |
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Spine and bony thorax | Klippel-Feil syndrome - Spondylolisthesis - Cervical rib - Bifid rib |
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Osteochondrodysplasia | growth of tubular bones and spine: Achondrogenesis - Thanatophoric dysplasia - Short rib-polydactyly syndrome - Chondrodysplasia punctata (Rhizomelic chondrodysplasia punctata, Conradi-Hünermann syndrome), Achondroplasia (Hypochondroplasia, Osteosclerosis congenita) - Ellis-van Creveld syndrome - Spondyloepiphyseal dysplasia congenita Osteogenesis imperfecta - McCune-Albright syndrome - Osteopetrosis - Metaphyseal dysplasia - Hereditary multiple exostoses - Osteopoikilosis - Chondrodystrophy - Osteodystrophy |
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Other | abdominal wall (Congenital diaphragmatic hernia, Omphalocele, Gastroschisis, Prune belly syndrome) - Ehlers-Danlos syndrome |
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See also non-congenital conditions (M, 710-739) |
Phakomatoses and other congenital malformations not elsewhere classified (Q85-Q89, 759) |
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Phakomatoses | Neurofibromatosis (type I, type II) - Tuberous sclerosis - Peutz-Jeghers syndrome - Sturge-Weber syndrome - Von Hippel-Lindau disease - Incontinentia pigmenti - Ataxia telangiectasia |
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Due to known exogenous causes | Fetal alcohol syndrome - Phocomelia (via Thalidomide) |
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Affecting multiple systems | facial (Mobius syndrome, Goldenhar syndrome, Cyclopia, Apert syndrome)
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)
limbs (Holt-Oram syndrome, Klippel-Trenaunay-Weber syndrome, Nail-patella syndrome, Rubinstein-Taybi syndrome, Sirenomelia, VACTERL association)
overgrowth (Beckwith-Wiedemann syndrome, Sotos syndrome, Weaver syndrome)
Marfan syndrome - Alport syndrome - Bardet-Biedl syndrome - Zellweger syndrome |
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Other | spleen: Asplenia - Splenomegaly
endocrine glands: Persistent thyroglossal duct - Thyroglossal cyst
Situs inversus - Conjoined twins
Cowden syndrome - Hamartoma |
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Pathology: chromosome abnormalities (Q90-Q99, 758) |
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Autosomal trisomies | Down syndrome (21), Edwards syndrome (18), Patau syndrome (13), Trisomy 9, Warkany syndrome 2 (8), Cat eye syndrome (22) |
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Autosomal monosomies/deletions | Wolf-Hirschhorn syndrome (4), Cri du chat (5), Angelman syndrome/Prader-Willi syndrome (15), Miller-Dieker syndrome/Smith-Magenis syndrome (17), 22q11.2 deletion syndrome (22) |
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X/Y linked | Monosomy: Turner syndrome (XO)
Trisomy: Triple X syndrome (XXX), Klinefelter's syndrome (XXY), XYY |
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Translocations | Philadelphia chromosome, Burkitt's lymphoma |
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Other | Fragile X syndrome, Gonadal dysgenesis (Mixed gonadal dysgenesis) |
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