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  • ICD-10_Chapter_XVII:_Congenital_malformations,_deformations_and_chromosomal_abnormalities

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



Contents

Q00-Q89 - Congenital malformations and deformations

(Q00-Q07) nervous system

(Q10-Q18) eye, ear, face and neck

  • (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
      • Coloboma of the fundus
    • (Q14.9) Congenital malformation of posterior segment of eye, unspecified
  • (Q15.) Other congenital malformations of eye
    • (Q15.0) Congenital glaucoma
      • Buphthalmos
      • Glaucoma of newborn
      • Hydrophthalmos
      • Keratoglobus, congenital, with glaucoma
      • Macrocornea with glaucoma
      • Macrophthalmos in congenital glaucoma
      • Megalocornea with glaucoma
  • (Q16.) Congenital malformations of ear causing impairment of hearing
  • (Q17.) Other congenital malformations of ear
    • (Q17.0) Accessory auricle
    • (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-Q28) circulatory system

  • (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

(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

(Q35-Q45) digestive system

  • (Q35.) Cleft palate
  • (Q36.) Cleft lip
  • (Q37.) Cleft palate with cleft lip

(Q50-Q56) genital organs

(Q60-Q64) urinary system

  • (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

  • (Q69.) Polydactyly
    • (Q69.0) Accessory finger(s)
    • (Q69.1) Accessory thumb(s)
    • (Q69.2) Accessory toe(s)
    • (Q69.9) Polydactyly, 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)

(Q80-Q89) Other

  • (Q86.) Congenital malformation syndromes due to known exogenous causes, not elsewhere classified
  • (Q87.) Other specified congenital malformation syndromes affecting multiple systems

Q90-Q99 - Chromosomal abnormalities, not elsewhere classified

See also

v • d • e
Congenital malformations and deformations of nervous system (Q00-Q07, 740-742)
BrainAnencephaly (Acephaly, Acrania, Iniencephaly) - Encephalocele - Microcephaly - Congenital hydrocephalus (Dandy-Walker syndrome) - other reduction deformities (Holoprosencephaly, Lissencephaly, Pachygyria, Hydranencephaly) - Septo-optic dysplasia - Megalencephaly - Congenital cerebral cysts (Porencephaly, Schizencephaly) - Congenital brain tumors
Brain stemArnold-Chiari malformation
Spinal cordSpina bifida - Currarino syndrome - Sacrococcygeal teratoma - Diastematomyelia - Syringomyelia
see also non-congenital CNS and PNS (G, 320-359)
v • d • e
Congenital malformations and deformations of eye, ear, face and neck (Q10-Q18, 743-744)
Eyeseyelid, lacrimal apparatus and orbit (Ptosis, Ectropion, Entropion, Distichia)

Anophthalmia - Microphthalmia

lens (Ectopia lentis, Aphakia)

Aniridia - Buphthalmos - Hydrophthalmos - Keratoglobus - Coloboma
EarsMicrotia
Other face and neckOtocephaly - Webbed neck - Microstomia - Macrocheilia
See also non-congenital eye and ear
v • d • e
Congenital malformations and deformations of circulatory system (Q20-Q28, 745-747)
Cardiac chambers and connectionsPersistent truncus arteriosus - Double outlet right ventricle (Taussig-Bing syndrome) - Transposition of the great vessels (dextro, levo)
Cardiac septaVentricular septal defect - Atrial septal defect (Lutembacher's syndrome) - Atrioventricular septal defect (Ostium primum) - Tetralogy of Fallot - Eisenmenger's syndrome
Right: pulmonary and tricuspid valvespulmonary valves (stenosis, insufficiency) - tricuspid valves (stenosis, atresia) - Ebstein's anomaly
Left: aortic and mitral valvesaortic valves (stenosis, insufficiency, bicuspid) - mitral valves (stenosis, regurgitation) - Hypoplastic left heart syndrome
Other congenital malformations
of heart		Dextrocardia - Levocardia - Cor triatriatum
Great arteriesaorta (Patent ductus arteriosus, Aortic coarctation, Interrupted aortic arch, Overriding aorta, Aneurysm of sinus of Valsalva, Vascular ring) - Pulmonary atresia
Great veinsPersistent left superior vena cava - Total anomalous pulmonary venous connection - Scimitar syndrome
OtherArteriovenous malformation (Cerebral arteriovenous malformation)
See also non-congenital conditions (I, 390-459)
v • d • e
Congenital malformations and deformations of respiratory system (Q30-Q34, 748)
NoseChoanal atresia
LarynxLaryngocele - Laryngomalacia
Trachea and bronchusTracheomalacia
LungBronchiectasis - Pulmonary sequestration - Congenital cystic adenomatoid malformation
see also non-congenital (J, 460-519)
v • d • e
Congenital malformations and deformations of digestive system (Q35-Q45, 749-751)
Tongue, mouth and pharynxCleft lip and palate - Van der Woude syndrome - Ankyloglossia - Macroglossia - Pharyngeal pouch
Esophagus and upper alimentary tractEsophageal atresia - Tracheoesophageal fistula - Esophageal web - Pyloric stenosis - Hiatus hernia
IntestinesIntestinal atresia (Duodenal atresia) - Imperforate anus - Meckel's diverticulum - Hirschsprung's disease - Intestinal malrotation - Persistent cloaca
PancreasAnnular pancreas - Accessory pancreas - Pancreas divisum
OtherCholedochal cysts - Alagille syndrome
See also non-congenital (K20-K93, 530-579)
v • d • e
Congenital malformations and deformations of genital organs and urinary system (Q50-Q64, 752-753)
Genital organs
(overview)		female: Uterine malformation - Mullerian agenesis - Uterine didelphys - Clitoromegaly

male: Cryptorchidism - Hypospadias - Chordee - Monorchism - Micropenis - Penile agenesis

Pseudohermaphroditism
Urinary systemkidney/ureter: Renal agenesis/Potter syndrome - cystic (Polycystic kidney disease, Meckel syndrome, Multicystic dysplastic kidney) - Ectopic ureter - Horseshoe kidney - Renal ectopia

bladder/urethra: Epispadias - Bladder exstrophy

urachus: Urachal cyst
See also non-congenital reproductive and urinary conditions (N, 580-629)
v • d • e
Congenital malformations and deformations of musculoskeletal system (Q65-Q79, 754-756)
Limbship: 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
Skull and face bonesCraniosynostosis (Scaphocephaly) - Trigonocephaly - Oxycephaly - Crouzon syndrome - Hypertelorism - Macrocephaly - Treacher Collins syndrome - Platybasia
Spine and bony thoraxKlippel-Feil syndrome - Spondylolisthesis - Cervical rib - Bifid rib
Osteochondrodysplasiagrowth 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
Otherabdominal wall (Congenital diaphragmatic hernia, Omphalocele, Gastroschisis, Prune belly syndrome) - Ehlers-Danlos syndrome
See also non-congenital conditions (M, 710-739)


v • d • e
Congenital malformations and deformations of integument (Q80-Q84, 757)
Congenital ichthyosisIchthyosis vulgaris - X-linked ichthyosis - Ichthyosis lamellaris - Epidermolytic hyperkeratosis - Harlequin type ichthyosis - Netherton's syndrome
Epidermolysis bullosaEpidermolysis bullosa simplex - Epidermolysis bullosa dystrophica
Other, of skinHereditary lymphedema - Xeroderma pigmentosum - Mastocytosis - Urticaria pigmentosa - Incontinentia pigmenti - Ectodermal dysplasia - Port-wine stain - Cutis laxa - Darier's disease - Bloom syndrome - Pseudoxanthoma elasticum
Of breastAccessory breast - Supernumerary nipple
Other,
of integument		Monilethrix
see also non-congenital (L, 680-709)
v • d • e
Phakomatoses and other congenital malformations not elsewhere classified (Q85-Q89, 759)
PhakomatosesNeurofibromatosis (type I, type II) - Tuberous sclerosis - Peutz-Jeghers syndrome - Sturge-Weber syndrome - Von Hippel-Lindau disease - Incontinentia pigmenti - Ataxia telangiectasia
Due to known exogenous causesFetal alcohol syndrome - Phocomelia (via Thalidomide)
Affecting multiple systemsfacial (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
Otherspleen: Asplenia - Splenomegaly

endocrine glands: Persistent thyroglossal duct - Thyroglossal cyst

Situs inversus - Conjoined twins

Cowden syndrome - Hamartoma
v • d • e
Pathology: chromosome abnormalities (Q90-Q99, 758)
Autosomal trisomiesDown syndrome (21), Edwards syndrome (18), Patau syndrome (13), Trisomy 9, Warkany syndrome 2 (8), Cat eye syndrome (22)
Autosomal monosomies/deletionsWolf-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)
X/Y linkedMonosomy: Turner syndrome (XO)
Trisomy: Triple X syndrome (XXX), Klinefelter's syndrome (XXY), XYY
TranslocationsPhiladelphia chromosome, Burkitt's lymphoma
OtherFragile X syndrome, Gonadal dysgenesis (Mixed gonadal dysgenesis)
 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "ICD-10_Chapter_XVII:_Congenital_malformations,_deformations_and_chromosomal_abnormalities". A list of authors is available in Wikipedia.
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