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Contents 1 14. Congenital anomalies (740-759) 1.1 nervous system 1.2 eye, ear, face and neck 1.3 circulatory system 1.4 respiratory system 1.5 digestive system 1.6 genital organs 1.7 urinary system 1.8 musculoskeletal system 1.9 integument 1.10 chromosomal anomalies 1.11 Other 2 See also

• (740) Anencephalus and similar anomalies
  • (740.0) Anencephalus

• (741) Spina bifida

• (742) Other congenital anomalies of nervous system
  • (742.1) Microcephalus
  • (742.3) Hydrocephalus

• (743) Congenital anomalies of eye
  • (743.6) Congenital anomalies of eyelids, lacrimal system, and orbit
  • (743.4) Coloboma and other anomalies of anterior segment
  • (743.45) Aniridia

• (744) Congenital anomalies of ear, face, and neck
  • (744.0) Anomalies of ear causing impairment of hearing
  • (744.4) Branchial cleft cyst or fistula; preauricular sinus

• (745) Bulbus cordis anomalies and anomalies of cardiac septal closure
  • (745.4) Ventricular septal defect
  • (745.5) Atrial septal defect

• (746) Other congenital anomalies of heart

• (747) Other congenital anomalies of circulatory system
  • (747.1) Coarctation of aorta
    • (747.11) Interruption of aortic arch
  • (747.2) Other congenital anomalies of aorta
  • (747.3) Congenital anomalies of pulmonary artery
  • (747.4) Congenital anomalies of great veins
  • (747.5) Absence or hypoplasia of umbilical artery
  • (747.6) Arteriovenous malformation, unspec.
  • (747.8) Other specified anomalies of circulatory system
    • (747.81) Arteriovenous malformation of brain
    • (746.82) Cor triatriatum
    • (746.83) Infundibular pulmonic stenosis congenital
    • (746.84) Congenital obstructive anomalies of heart not elsewhere classified
    • (746.85) Coronary artery anomaly congenital
    • (746.86) Congenital heart block
    • (746.87) Malposition of heart and cardiac apex
    • (747.89) Other specified congenital anomalies of heart
      • Brugada syndrome
  • (747.9) Unspecified congenital anomaly of circulatory system

• (748) Congenital anomalies of respiratory system
  • (748.0) Choanal atresia

• (749) Cleft palate
  • (749.0) Cleft palate, unspec.
  • (749.2) Cleft palate w/ cleft lip

• (750) Other congenital anomalies of upper alimentary tract
  • (750.0) Tongue tie
  • (750.5) Pyloric stenosis

• (751) Other congenital anomalies of digestive system
  • (751.0) Meckel's diverticulum
  • (751.2) Imperforate anus
  • (751.3) Hirschsprung's disease

• (752) Congenital anomalies of genital organs
  • (752.4) Anomalies of cervix, vagina, and external female genitalia
    • (752.42) Imperforate hymen
  • (752.5) Undescended testicle
  • (752.6) Hypospadias and epispadias
    • (752.61 Hypospadias
    • (752.62 Epispadias
    • (752.63 Congenital chordee
    • (752.64 Micropenis

• (753) Congenital anomalies of urinary system
  • (753.0) Renal agenesis and dysgenesis
  • (753.1) Cystic kidney disease
  • (753.2) Obstructive defects of renal pelvis and ureter
  • (753.3) Other specified anomalies of kidney
    • Renal ectopia
    • Horseshoe kidney
  • (753.4) Other specified anomalies of ureter
    • Ectopic ureter
  • (753.5) Exstrophy of urinary bladder
  • (753.6) Atresia and stenosis of urethra and bladder neck
  • (753.7) Anomalies of urachus
    • Urachal cyst
  • (753.8) Other specified anomalies of bladder and urethra
  • (753.9) Unspecified anomaly of urinary system

• (754) Certain congenital musculoskeletal deformities
  • (754.1) Torticollis, sternomastoid
  • (754.3) Dislocation of hip, unilateral
  • (754.5) Varus deformities of feet
    • (754.51) Talipes equinovarus
  • (754.6) Valgus deformities of feet
  • (754.8) Other specified nonteratogenic anomalies
    • (754.81) Pectus excavatum

• (755) Other congenital anomalies of limbs
  • (755.0) Polydactyly
  • (755.5) Other congenital anomalies of upper limb including shoulder girdle
    • (755.55) Acrocephalosyndactyly
      • Apert syndrome
  • (755.9) Limb anomaly, unspec.

• (756) Other congenital musculoskeletal anomalies
  • (756.1) Anomalies of spine
    • (756.12) Spondylolisthesis
    • (756.17) Spina bifida occulta
  • (756.5) Osteodystrophies
    • (756.51) Osteogenesis imperfecta

• (757) Congenital anomalies of the integument
  • (757.3) Other specified anomalies of skin
    • (757.32) Birthmarks
    • (757.39) Other specified congenital anomalies of skin
      • Bloom syndrome
      • Epidermolysis bullosa
      • Pseudoxanthoma elasticum
  • (757.6) Supernumerary nipple

• (758) Chromosomal anomalies
  • (758.0) Down's syndrome
  • (758.1) Patau's syndrome
  • (758.2) Edward's syndrome
  • (758.3) Autosomal deletion syndromes
    • (758.31) Cri du chat
    • (758.32) Velo-cardio-facial syndrome
    • (758.33) Other microdeletions
      • Miller-Dieker syndrome
      • Smith-Magenis syndrome
  • (758.4) Balanced autosomal translocation in normal individual
  • (758.5) Other conditions due to autosomal anomalies
  • (758.6) Gonadal dysgenesis
    • Turner's syndrome
    • XO syndrome
  • (758.7) Klinefelter's syndrome
  • (758.8) Other conditions due to sex chromosome anomalies
  • (758.9) Conditions due to anomaly of unspecified chromosome

• (759) Other and unspecified congenital anomalies
  • (759.5) Tuberous sclerosis
    • (759.82) Marfan syndrome
  • (759.6) Other congenital hamartoses not elsewhere classified
    • Cowden syndrome

• List of ICD-9 codes
• ICD-10 Chapter Q: Congenital malformations, deformations and chromosomal abnormalities
• Congenital disorder

v • d • e Congenital malformations and deformations of nervous system (Q00-Q07, 740-742) Brain Anencephaly (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 Polymicrogyria (Bilateral frontoparietal polymicrogyria) Brain stem Arnold-Chiari malformation Spinal cord Spina 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 eyes (Q10-Q15, 743) Adnexa Eyelid Ptosis - Ectropion - Entropion - Distichia - Blepharophimosis - Ablepharon Lacrimal apparatus Congenital lacrimal duct obstruction Eyeball Entire eye Anophthalmia - Microphthalmia Lens Ectopia lentis - Aphakia Iris Aniridia Anterior segment Axenfeld syndrome Other Buphthalmos - Coloboma - Hydrophthalmos - Keratoglobus See also non-congenital

v • d • e Congenital malformations and deformations of ear, face and neck (Q16-Q18, 744) Ears Microtia - Low-set ears Other/combinations Otocephaly - Hallermann-Streiff syndrome - Webbed neck - Microstomia - Macrocheilia See also non-congenital

v • d • e Congenital malformations and deformations of circulatory system (Q20-Q28, 745-747) Heart (R→L, L→R) Cardiac chambers and connections Persistent truncus arteriosus - Double outlet right ventricle (Taussig-Bing syndrome) - Transposition of the great vessels (dextro, levo) - Brugada syndrome Cardiac septa Ventricular septal defect - Atrial septal defect (Lutembacher's syndrome) - Atrioventricular septal defect (Ostium primum) - Tetralogy of Fallot - Eisenmenger's syndrome Valvular heart disease/ heart chambers Right pulmonary valves (stenosis, insufficiency) - tricuspid valves (stenosis, atresia) - Ebstein's anomaly Left aortic valves (stenosis, insufficiency, bicuspid) - mitral valves (stenosis, regurgitation) - Hypoplastic left heart syndrome Other Dextrocardia - Levocardia - Cor triatriatum - Crisscross heart Vascular Great arteries aorta: Patent ductus arteriosus - Aortic coarctation - Interrupted aortic arch - Overriding aorta - Aneurysm of sinus of Valsalva - Vascular ring pulmonary artery: Pulmonary atresia Great veins superior vena cava: Persistent left superior vena cava pulmonary vein: Total anomalous pulmonary venous connection - Scimitar syndrome Other Arteriovenous 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) Upper RT Nose Choanal atresia Larynx Laryngocele - Laryngomalacia Lower RT Trachea and bronchus Tracheomalacia - Tracheal stenosis - Bronchomalacia - Mounier-Kuhn syndrome Lung Bronchiectasis - Pulmonary sequestration - Congenital cystic adenomatoid malformation see also non-congenital, tumors

v • d • e Congenital malformations and deformations of digestive system (Q35-Q45, 749-751) Upper GI tract Tongue, mouth and pharynx Cleft lip and palate - Van der Woude syndrome - tongue (Ankyloglossia, Macroglossia, Hypoglossia) - Pharyngeal pouch Esophagus Esophageal atresia - Tracheoesophageal fistula - Esophageal web - Schatzki ring Stomach Pyloric stenosis - Hiatus hernia Lower GI tract Intestines Intestinal atresia (Duodenal atresia) - Meckel's diverticulum - Hirschsprung's disease - Intestinal malrotation Rectum/anus Imperforate anus - Persistent cloaca Accessory Pancreas Annular pancreas - Accessory pancreas - Pancreas divisum Bile duct Choledochal cysts (Caroli disease) - Biliary atresia Liver Alagille syndrome See also non-congenital, neoplasia, symptoms/signs

v • d • e Congenital malformations and deformations of genital organs (Q50-Q56, 752) Female Uterine malformation Mullerian agenesis, Unicornuate uterus, Uterus didelphys, Bicornuate uterus, Uterine septum, Arcuate uterus Other Vaginal septum - Clitoromegaly Male Testicle Cryptorchidism, Polyorchidism, Monorchism, Anorchia Penis Hypospadias, Chordee, Micropenis, Penile agenesis, Diphallia SDS Pseudohermaphroditism - True hermaphroditism - Swyer syndrome See also noncongenital, neoplasia

v • d • e Congenital malformations and deformations of urinary system (Q60-Q64, 753) Abdominal Kidney Renal agenesis/Potter syndrome, Papillorenal syndrome cystic (Polycystic kidney disease, Meckel syndrome, Multicystic dysplastic kidney, Medullary sponge kidney) Horseshoe kidney - Renal ectopia - Nephronophthisis Ureter Ectopic ureter - Megaureter Pelvic Bladder Bladder exstrophy Urethra Epispadias Vestigial Urachus Urachal cyst See also non-congenital, neoplasia, symptoms/signs

v • d • e Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality (Q65-Q79, 754-756) Regional Limb Upper Cleidocranial dysostosis - Madelung's deformity - Sprengel's deformity - Wallis Zieff Goldblatt syndrome - Clinodactyly Lower hip: Dislocation of hip/Hip dysplasia - Upington disease knee: Genu valgum - Genu varum feet: Club foot - Flat feet - Pes cavus Either/both dactyly: Polydactyly/Syndactyly (Webbed toes) - Arachnodactyly - Cenani Lenz syndactylism reduction deficits: Acheiropodia - Amelia - Ectrodactyly - Phocomelia multiple joints: Arthrogryposis - Larsen syndrome - Rapadilino syndrome Craniofacial Craniosynostosis: Scaphocephaly - Oxycephaly - Trigonocephaly Craniofacial dysostosis: Crouzon syndrome - Hypertelorism - Hallermann-Streiff syndrome - Treacher Collins syndrome other: Macrocephaly - Platybasia - Craniodiaphyseal dysplasia - Dolichocephaly - Greig cephalopolysyndactyly syndrome - Plagiocephaly - Saddle nose Other axial spine: spinal curvature (Scoliosis) - Klippel-Feil syndrome - Spondylolisthesis ribs: Cervical rib - Bifid rib sternum: Pectus excavatum - Pectus carinatum Abdominal wall Congenital diaphragmatic hernia - Omphalocele - Gastroschisis - Prune belly syndrome Osteo-chondro- dysplasia development of cartilage, tubular bones and spine: Achondrogenesis/Hypochondrogenesis - Boomerang dysplasia - Thanatophoric dysplasia - Short rib-polydactyly syndrome - Chondrodysplasia punctata (Rhizomelic chondrodysplasia punctata, Conradi-Hünermann syndrome) - Achondroplasia (Hypochondroplasia) - Osteosclerosis (Raine syndrome) - Ellis-van Creveld syndrome - Otospondylomegaepiphyseal dysplasia - Spondyloepiphyseal dysplasia congenita collagen diseases: Osteogenesis imperfecta - Ehlers-Danlos syndrome combined/other: McCune-Albright syndrome - Osteopetrosis - Metaphyseal dysplasia - Recessive multiple epiphyseal dysplasia - Hereditary multiple exostoses - Osteopoikilosis - Chondrodystrophy - Osteodystrophy - Atelosteogenesis, type II - Diastrophic dysplasia - Camurati-Engelmann disease - Antley-Bixler syndrome See also non-congenital conditions (M, 710-739)

v • d • e Congenital malformations and deformations of integument (Q80-Q84, 757) Skin disease Congenital ichthyosis Epidermolytic hyperkeratosis - Harlequin type ichthyosis - Ichthyosis lamellaris - Ichthyosis vulgaris - Netherton syndrome - X-linked ichthyosis - Zunich-Kaye syndrome Epidermolysis bullosa Epidermolysis bullosa simplex - Epidermolysis bullosa dystrophica Other Hereditary lymphedema - Mastocytosis - Meleda disease - Naegeli syndrome - Urticaria pigmentosa - Incontinentia pigmenti - Ectodermal dysplasia - Dermatopathia pigmentosa reticularis - EEM syndrome - Familial cutaneous papillomatosis - Hay-Wells syndrome - Kindler syndrome - Port-wine stain - Cutis laxa - Darier's disease - Pseudoxanthoma elasticum - Keratosis pilaris - Dyskeratosis congenita DNA repair-deficiency disorder: Bloom syndrome - Rothmund-Thomson syndrome - Xeroderma pigmentosum Skin appendages Nail disease Leukonychia - Pachyonychia congenita Hair disease Monilethrix - Sabinas brittle hair syndrome see also non-congenital, neoplasia

v • d • e Congenital malformations and deformations of malformations of breast (Q83, 757.6) Breast Amastia - Accessory breast - Micromastia Nipple Athelia - Supernumerary nipple see also non-congenital (N60-N64, 610-611), neoplasia

v • d • e Pathology: chromosome abnormalities (Q90-Q99, 758) Autosomal Trisomies Down syndrome (21), Edwards syndrome (18), Patau syndrome (13) Trisomy 9, Warkany syndrome 2 (8), Trisomy 22/Cat eye syndrome (22), Trisomy 16 Monosomies/deletions Wolf-Hirschhorn syndrome (4), Cri du chat (5), Williams syndrome (7), Miller-Dieker syndrome/Smith-Magenis syndrome (17), 22q11.2 deletion syndrome (22) genomic imprinting (Angelman syndrome/Prader-Willi syndrome (15)) X/Y linked Monosomy Turner syndrome (XO) Trisomy/ other karyotypes Klinefelter's syndrome (XXY), XXYY, XXXXY Triple X syndrome (XXX), XXXX, XXXXX XYY Translocations Philadelphia chromosome, Burkitt's lymphoma Gonadal dysgenesis Mixed gonadal dysgenesis Other Fragile X syndrome, Uniparental disomy

v • d • e Congenital endocrine disease (Q89.1-Q89.2, 759.1-759.2) Thyroid Persistent thyroglossal duct - Thyroglossal cyst Pancreas see congenital digestive Testicles see congenital reproductive see also noncongenital, neoplasia

v • d • e Phakomatoses (Q85, 759.5-759.6) Neurofibromatosis type I - type II Other Abdallat Davis Farrage syndrome - Ataxia telangiectasia - Incontinentia pigmenti - Peutz-Jeghers syndrome - Sturge-Weber syndrome - Tuberous sclerosis - Von Hippel-Lindau disease

v • d • e Congenital abnormality - multiple abnormalities (Q87, 759.7) Facial Acrocephalosyndactylia (Apert syndrome, Saethre-Chotzen syndrome, Pfeiffer syndrome, Carpenter syndrome, Sakati-Nyhan-Tisdale syndrome) - Mobius syndrome - Goldenhar syndrome - Cyclopia Short stature Aarskog-Scott syndrome - Cockayne syndrome - Cornelia de Lange Syndrome - Dubowitz syndrome - Noonan syndrome - Robinow syndrome - Silver-Russell dwarfism - Seckel syndrome - Smith-Lemli-Opitz syndrome Limbs Adducted thumb syndrome - Holt-Oram syndrome - Klippel-Trenaunay-Weber syndrome - Nail-patella syndrome - Rubinstein-Taybi syndrome - Sirenomelia - VACTERL association Overgrowth Beckwith-Wiedemann syndrome - Sotos syndrome - Weaver syndrome Collagen Alport syndrome Combined/other, known locus 3 (Zimmerman-Laband syndrome) - 4/13 (Fraser syndrome) - 8 (Branchio-oto-renal syndrome) - 11/16 (Bardet-Biedl syndrome) - 12 (Keutel syndrome, Timothy syndrome) - 15 (Marfan syndrome) - 19 (Donohue syndrome) Combined/other, unknown locus Ablepharon macrostomia syndrome - Fountain syndrome - Laurence-Moon syndrome - Urban-Rogers-Meyer syndrome - Vici syndrome - Yunis-Varon syndrome - Zori Stalker Williams syndrome