Congenital Anomalies Group (944)    NLM VALUE SETS (802.2)

Melnick-Fraser syndrome (disorder)

Chimera (disorder)

Congenital atresia of esophagus (disorder)

Aortic left ventricular tunnel (disorder)

Anomalous venous drainage (morphologic abnormality)

Ocular albinism (disorder)

Syringobulbia (disorder)

Coarctation of pulmonary artery (disorder)

Anomaly of chromosome pair 14 (disorder)

Byzanthine arch palate (disorder)

Congenital anomaly of coronary artery (disorder)

Polycystic kidney disease, infantile type (disorder)

Rud's syndrome (disorder)

Gastric atresia (disorder)

Bilobed right lung (disorder)

Venous anomaly of umbilical cord (disorder)

8q partial monosomy syndrome (disorder)

Congenital atresia of pharynx (disorder)

Disorder of adrenal gland (disorder)

Accessory kidney (disorder)

1q partial monosomy syndrome (disorder)

Spina bifida of dorsal region (disorder)

Anomalous origin of artery (morphologic abnormality)

Congenital cerebral arteriovenous aneurysm (disorder)

Holoprosencephaly sequence (disorder)

Congenital ischemic atrophy of central nervous system structure (disorder)

Congenital hydroureter (disorder)

Ring chromosome 21 syndrome (disorder)

Feminizing syndrome of adrenal origin (disorder)

Cerebral cortical dysgenesis (disorder)

Congenital atresia of artery (disorder)

Congenital anomaly of lower alimentary tract (disorder)

12p partial monosomy syndrome (disorder)

Anomaly of chromosome pair 17 (disorder)

Dubowitz's syndrome (disorder)

Syndactyly of toes (disorder)

Spina bifida of cervical region (disorder)

Anomaly of chromosome pair 2 (disorder)

Congenital hypoplasia of kidney (disorder)

Congenital vascular anomaly (morphologic abnormality)

Congenital anomaly of sclera (disorder)

Syndactyly of fingers (disorder)

Lamellar ichthyosis AND trichorrhexis invaginata syndrome (disorder)

Congenital absence of bronchus (disorder)

Congenital stenosis of choanae (disorder)

Congenital vascular anomaly of eye (disorder)

Congenital cerebral meningocele (disorder)

Fibrous skin tumor of tuberous sclerosis (disorder)

Congenital anomaly of pulmonary artery (disorder)

Sex phenotype-karyotype dissociation syndrome (disorder)

Congenital stenosis of tricuspid valve (disorder)

1p partial monosomy syndrome (disorder)

Congenital absence of esophagus (disorder)

16q partial monosomy syndrome (disorder)

Congenital notching of tip of nose (disorder)

Anomaly of chromosome pair 7 (disorder)

Congenital stenosis of nares (disorder)

Known OR suspected fetal spina bifida with myelomeningocele affecting obstetrical 
care (disorder)

4q partial monosomy syndrome (disorder)

Anomaly of chromosome pair 12 (disorder)

Congenital deformity of wall of nasal sinus (disorder)

Discoid kidney (disorder)

Congenital anomaly of the bladder (disorder)

Encephalo-ophthalmic dysplasia (disorder)

Congenital porencephaly (disorder)

Scimitar syndrome (disorder)

Spina bifida without hydrocephalus (disorder)

Anomaly of chromosome pair 10 (disorder)

De Lange syndrome (disorder)

Congenital absence of vein (disorder)

Congenital esophagobronchial fistula (disorder)

Cerebro-oculo-facio-skeletal syndrome (disorder)

Anomalous venous connection (morphologic abnormality)

Congenital varus deformity of foot (disorder)

Occipital encephalocele (disorder)

Congenital diverticulum of bronchus (disorder)

9q partial monosomy syndrome (disorder)

Ectopic glial tissue (disorder)

Congenital dilatation of esophagus (disorder)

Submucous cleft of hard palate (disorder)

Congenital hypoplasia of aorta (disorder)

Heart valve stenosis (disorder)

Congenital anomaly of the kidney (disorder)

Congenital hypoplasia of umbilical artery (disorder)

Anomaly of chromosome pair 6 (disorder)

Congenital pulmonary lymphangiectasis (disorder)

Congenital dilatation of aorta (disorder)

Common ventricle (disorder)

Melanosis oculi (disorder)

Lethal glossopharyngeal defect (disorder)

Maffucci syndrome (disorder)

Ring chromosome 1 syndrome (disorder)

Congenital hiatus hernia (disorder)

Congenital hydrocephalus (disorder)

Congenital web of larynx (disorder)

Congenital anomaly of lung (disorder)

Incomplete bilateral cleft palate (disorder)

Congenital calculus of kidney (disorder)

Anomaly of chromosome pair 8 (disorder)

Congenital anisocoria (disorder)

Congenital eventration of right crus of diaphragm (disorder)

Congenital stricture of urinary meatus (disorder)

Congenital pseudoporencephaly (disorder)

Congenital nephrotic syndrome (disorder)

Congenital atresia of ureter (disorder)

Disorder of cardiovascular system (disorder)

Congenital stenosis of aqueduct of Sylvius (disorder)

Congenital atresia of bronchus (disorder)

Ehlers-Danlos syndrome, type 8 (disorder)

Congenital anomaly of bronchus (disorder)

Congenital fistula of urachus (disorder)

Congenital bent nose (disorder)

Congenital absence of trachea (disorder)

Congenital atresia of duodenum (disorder)

Congenital atresia of aortic valve (disorder)

Congenital laryngocele (disorder)

Congenital anomaly of ureter (disorder)

Meningoencephalocele (disorder)

Congenital supravalvular pulmonary stenosis (disorder)

Rathke's pouch cyst (disorder)

Congenital gastric perforation (disorder)

Congenital atresia of trachea (disorder)

Spina bifida with hydrocephalus (disorder)

Congenital anomaly of upper respiratory system (disorder)

Anomaly of chromosome pair 16 (disorder)

Encephalocystocele (disorder)

Congenital anomaly of cerebral artery (disorder)

Ichthyosis linearis circumflexa (disorder)

Congenital hypertrophy of pylorus (disorder)

Congenital hypoplasia of pulmonary artery (disorder)

Ectopic gray matter in centrum ovale (disorder)

Congenital malposition of kidney (disorder)

Encephalocele (disorder)

Ulegyria (disorder)

Microgyria (disorder)

Microcystic renal disease (disorder)

Congenital anomaly of brain (disorder)

Marfanoid joint hypermobility syndrome (disorder)

Anomaly of chromosome pair 5 (disorder)

Known OR suspected fetal anencephaly affecting obstetrical care (disorder)

Seckel syndrome (disorder)

Spina bifida aperta (disorder)

Anomaly of chromosome pair 18 (disorder)

Congenital septal defect of heart (disorder)

Anomalous pulmonary venous drainage (disorder)

Anomaly of chromosome pair 9 (disorder)

Congenital anomaly of aorta (disorder)

Congenital stricture of artery (disorder)

Cleft leaflet of tricuspid valve (disorder)

Ring chromosome 9 syndrome (disorder)

Duplication of duodenum (disorder)

Congenital anomaly of stomach (disorder)

Anomaly of chromosome pair 11 (disorder)

Microphthalmos (disorder)

Rachischisis (disorder)

Common truncus arteriosus (disorder)

Agenesis of corpus callosum (disorder)

Arterial anomaly of umbilical cord (disorder)

Status marmoratus (disorder)

Accessory bladder (disorder)

9p partial monosomy syndrome (disorder)

Congenital cyst of posterior segment of eye (disorder)

15q partial monosomy syndrome (disorder)

Congenital atresia of tricuspid valve (disorder)

Uranostaphyloschisis (disorder)

Dens evaginatus (disorder)

Alstrom syndrome (disorder)

Prune belly syndrome (disorder)

Oculocutaneous albinism (disorder)

Multiple malformation syndrome with unusual brain and/or neuromuscular 
findings (disorder)

Aganglionosis of parasympathetic nerve ganglia (disorder)

Accessory ureter (disorder)

Congenital atresia of larynx (disorder)

Nasal encephalocele (disorder)

Congenital hyperplasia of muscle (disorder)

Vascular ring of aorta (disorder)

Congenital absence of lung (disorder)

Congenital absence of alimentary tract (disorder)

Congenital anomaly of renal pelvis (disorder)

Congenital duplication of esophagus (disorder)

Cleft palate with cleft lip (disorder)

Congenital stenosis of pulmonary valve (disorder)

Ichthyosis hystrix (disorder)

Spina bifida (disorder)

Congenital obstruction of aqueduct of Sylvius (disorder)

Congenital anomaly of cartilage (disorder)

Anomalous origin of pulmonary artery (disorder)

Partial anomalous pulmonary venous connection (disorder)

Congenital bronchopulmonary foregut malformation (disorder)

Congenital diverticulum of trachea (disorder)

Limb reduction-ichthyosis syndrome (disorder)

Congenital mesenteroaxial volvulus of stomach (disorder)

Ecchordosis physaliphora (disorder)

Congenital anomaly of esophagus (disorder)

Anomaly of chromosome pair 21 (disorder)

5p partial monosomy syndrome (disorder)

Horizontal overbite (disorder)

Congenital anomaly of heart valve (disorder)

Ectopic gastric tissue (disorder)

Anomaly of chromosome pair 22 (disorder)

Nasal glial heterotopia (disorder)

Occult spinal dysraphism sequence (disorder)

Congenital hypoplasia of cardiac vein (disorder)

Congenital anomaly of larynx (disorder)

X-linked ichthyosis with steryl-sulfatase deficiency (disorder)

Polyploidy syndrome (disorder)

Congenital anomaly of musculoskeletal system (disorder)

Congenital anomaly of pituitary gland (disorder)

Congenital disorder due to abnormality of chromosome number OR structure 
(disorder)

Congenital short hard palate (disorder)

Anomaly of chromosome pair 1 (disorder)

10p partial monosomy syndrome (disorder)

Tongue absent (disorder)

Persistent cloaca (disorder)

Congenital anomaly of spine (disorder)

Congenital stricture of ureter (disorder)

Amyelencephalus (disorder)

Anomalous origin of coronary artery (disorder)

Congenital anoperineal fistula (disorder)

Sotos' syndrome (disorder)

Rudimentary tracheal bronchus (disorder)

Angelman syndrome (disorder)

Fragile X syndrome (disorder)

Congenital dilatation of trachea (disorder)

Spina bifida occulta (disorder)

Spina bifida of lumbar region (disorder)

Cheilognathoschisis (disorder)

Congenital bronchiectasis (disorder)

Reduction deformity of lower limb (disorder)

Congenital absence of ureter (disorder)

Cleft leaflet of mitral valve (disorder)

Neurocutaneous syndrome (disorder)

Congenital hypoplasia of part of brain (disorder)

Complete monosomy 21 syndrome (disorder)

Tuberous sclerosis syndrome (disorder)

Congenital anomaly of muscle AND/OR tendon (disorder)

Anomaly of chromosome pair 19 (disorder)

Atresia of urinary meatus (disorder)

Talipes valgus (disorder)

Cleft lip (disorder)

Aicardi's syndrome (disorder)

Congenital stricture of vesicourethral orifice (disorder)

Congenital hypoplasia of lung (disorder)

Congenital anomaly of spinal cord (disorder)

Congenital atresia of vein (disorder)

Double outlet left ventricle (disorder)

Congenital diverticulum of bladder (disorder)

7q partial monosomy syndrome (disorder)

Anomaly of chromosome Y (disorder)

Ring chromosome 4 syndrome (disorder)

Opitz-Frias syndrome (disorder)

Congenital stenosis of mitral valve (disorder)

Congenital cystic kidney disease (disorder)

Accessory urethra (disorder)

Congenital partial absence of alimentary tract (disorder)

Congenital microgastria (disorder)

Congenital anomaly of skeletal bone (disorder)

Exencephaly (disorder)

Bifid tongue (disorder)

Anomaly of chromosome pair 4 (disorder)

Megacalycosis (disorder)

Agenesis of pulmonary artery (disorder)

Ring chromosome 10 syndrome (disorder)

Congenital cystic lung (disorder)

Cleft palate (disorder)

Congenital megalogastria (disorder)

Nodular renal blastema (disorder)

Congenital stenosis of trachea (disorder)

Ring chromosome 18 syndrome (disorder)

Congenital stenosis of vena cava (disorder)

Congenital anomaly of nervous system (disorder)

Congenital web of esophagus (disorder)

Congenital displacement of stomach (disorder)

Prader-Willi syndrome (disorder)

Congenital anomaly of skeletal muscle (disorder)

Ectopic pancreatic tissue in stomach (disorder)

Congenital diverticulum of stomach (disorder)

Congenital anourethral fistula (disorder)

Macroencephaly (disorder)

Supernumerary structure (morphologic abnormality)

Congenital absence of artery (disorder)

Abnormal communication between pericardial sac and peritoneal cavity (disorder)

Acephalostomia (disorder)

Congenital absence of stomach (disorder)

Congenital absence of intestinal tract (disorder)

Congenital absence of palatine bone (disorder)

Congenital abnormal fusion of palatine bone (disorder)

Congenital abnormal fusion of vomer (disorder)

Congenital abnormal shape of cerebrum (disorder)

Anomaly of chromosome pair 20 (disorder)

Congenital abnormal shape of kidney (disorder)

Congenital abnormal shape of lung (disorder)

Congenital abnormal shape of palate rugae (disorder)

Congenital abnormal shape of palatine bone (disorder)

Congenital abnormal shape of vomer (disorder)

Congenital absence of nasal turbinate (disorder)

Congenital absence of nasal septum (disorder)

Congenital absence of subclavian artery (disorder)

Congenital anomaly of azygos vein (disorder)

Congenital anomaly of nasal turbinate (disorder)

Congenital anomaly of cardiovascular system (disorder)

Congenital anomaly of vomer (disorder)

Congenital dilatation of bladder (disorder)

Congenital dilatation of carotid artery (disorder)

Congenital dilatation of ductus arteriosus (disorder)

Congenital dilatation of inferior vena cava (disorder)

Congenital dilatation of innominate artery (disorder)

Congenital dilatation of pulmonary artery (disorder)

Congenital dilatation of stomach (disorder)

Congenital dilatation of subclavian artery (disorder)

Congenital dilatation of superior vena cava (disorder)

Coffin-Siris syndrome (disorder)

Congenital duplication of aorta (disorder)

Congenital elongation of innominate artery (disorder)

Congenital hypertrophy of nasal cavity (disorder)

Macrophthalmos (disorder)

Congenital hypoplasia of bladder (disorder)

Congenital hypoplasia of cerebrum (disorder)

Congenital hypoplasia of nasal cavity (disorder)

Congenital hypoplasia of nasal turbinate (disorder)

Congenital hypoplasia of nasal septum (disorder)

Congenital hypoplasia of nose (disorder)

Triploidy, diploidy, mixoploidy syndrome (disorder)

Congenital hypoplasia of palatine bone (disorder)

Congenital hypoplasia of vomer (disorder)

Congenital malposition of carotid artery (disorder)

Congenital malposition of eye (disorder)

Congenital malposition of innominate artery (disorder)

Congenital malposition of nares (disorder)

Congenital malposition of nasal septum (disorder)

Congenital malposition of nose (disorder)

Congenital malposition of pulmonary artery (disorder)

Congenital malposition of subclavian artery (disorder)

Congenital adhesions of tongue (disorder)

Trilobed left lung (disorder)

Congenital misalignment of palate rugae (disorder)

Congenital stenosis of innominate artery (disorder)

Congenital stenosis of stomach (disorder)

Congenital stenosis of subclavian artery (disorder)

Congenital ocular coloboma (disorder)

Congenital protrusion of tongue (disorder)

Congenital short growth of innominate artery (disorder)

Holorachischisis (disorder)

Multiple intracardiac shunts (disorder)

Reverse posterior crossbite (disorder)

Spinobulbar atrophy (disorder)

Rhinocephaly (disorder)

Single naris (disorder)

Supernumerary azygos vein (disorder)

Anomaly of sex chromosome (disorder)

Congenital anomaly of joint (disorder)

Congenital perforation of nasal septum (disorder)

Congenital anomaly of digestive tract (disorder)

Congenital arteriovenous malformation of the gastrointestinal tract (disorder)

Multiple gastrointestinal atresias (disorder)

Congenital degeneration of nervous system (disorder)

Congenital malposition of heart (disorder)

Congenital brain damage (disorder)

Congenital flaccid paralysis (disorder)

Congenital anomaly of tongue, salivary gland AND/OR pharynx (disorder)

False anodontia (disorder)

Congenital absence of one tooth (disorder)

Anodontia of primary dentition (disorder)

Anodontia of permanent dentition (disorder)

Cleft of primary palate (disorder)

Bilateral cleft of primary palate (disorder)

Buccal bifurcation cyst (disorder)

Congenital atresia of pulmonary artery (disorder)

Ring chromosome 11 syndrome (disorder)

Anomaly of chromosome X (disorder)

Congenital anomaly of pulmonary veins (disorder)

Congenital diverticulum of pharynx (disorder)

Dyke-Davidoff-Masson syndrome (disorder)

Agenesis of nerve (disorder)

Congenital anomaly of the urinary tract proper (disorder)

Gynandromorphism syndrome (disorder)

Group chromosomal alteration (disorder)

Chromosomal alterations of group A (disorder)

Autosomal dominant hereditary disorder (disorder)

Chromosomal alterations of group B (disorder)

Chromosomal alterations of group C and X (disorder)

Chromosomal alterations of group D (disorder)

Chromosomal alterations of group E (disorder)

Chromosomal alterations of group F (disorder)

Chromosomal alterations of group G and Y (disorder)

Congenital anomaly of lower respiratory system (disorder)

Accessory structure of lower respiratory tract (disorder)

Congenital stenosis of cardiac valve (disorder)

Dextrorotation of heart (disorder)

Congenital anomaly of pharynx (disorder)

Anomalous venous connection, partial (morphologic abnormality)

Anomalous venous connection, complete (morphologic abnormality)

Congenital anomaly of visual system (disorder)

Congenital anomaly of central nervous system (disorder)

Congenital anomaly of nasal sinuses (disorder)

Congenital anomaly of mouth (disorder)

Congenital anomaly of duodenum (disorder)

Congenital anomaly of gastrointestinal tract (disorder)

Congenital anomaly of posterior segment of eye (disorder)

Congenital pulmonary vein confluence (disorder)

Congenital coronary artery fistula (disorder)

Congenital pulmonary venous atrium (disorder)

Congenital systemic venous atrium (disorder)

Congenital pulmonary artery conduit (disorder)

Anomalous pulmonary vein (morphologic abnormality)

Systemic collateral artery to lung (morphologic abnormality)

Congenital coronary artery fistula to pulmonary artery (disorder)

Acquired adrenogenital syndrome (disorder)

Syringomyelia and syringobulbia (disorder)

Congenital anomaly of skin (disorder)

Anencephalus and similar anomalies (disorder)

Congenital stenosis of pulmonary veins (disorder)

Cervical spina bifida with hydrocephalus (disorder)

Thoracic spina bifida with hydrocephalus (disorder)

Lumbar spina bifida with hydrocephalus (disorder)

Cervical spina bifida with hydrocephalus - open (disorder)

Thoracic spina bifida with hydrocephalus - open (disorder)

Lumbar spina bifida with hydrocephalus - open (disorder)

Sacral spina bifida with hydrocephalus - open (disorder)

Spina bifida with hydrocephalus - closed (disorder)

Cervical spina bifida with hydrocephalus - closed (disorder)

Thoracic spina bifida with hydrocephalus - closed (disorder)

Congenital stenosis of larynx (disorder)

Lumbar spina bifida with hydrocephalus - closed (disorder)

Sacral spina bifida with hydrocephalus - closed (disorder)

Spina bifida with hydrocephalus of late onset (disorder)

Spina bifida with stenosis of aqueduct of Sylvius (disorder)

Cervical spinal hydromeningocele (disorder)

Cervical spinal meningocele (disorder)

Thoracic spinal meningocele (disorder)

Lumbar spinal meningocele (disorder)

Myelocystocele (disorder)

Cervical myelocystocele (disorder)

Congenital eventration of left crus of diaphragm (disorder)

Thoracic myelocystocele (disorder)

Lumbar myelocystocele (disorder)

Cervical spina bifida without hydrocephalus - open (disorder)

Thoracic spina bifida without hydrocephalus - open (disorder)

Lumbar spina bifida without hydrocephalus - open (disorder)

Sacral spina bifida without hydrocephalus - open (disorder)

Spina bifida without hydrocephalus - closed (disorder)

Cervical spina bifida without hydrocephalus - closed (disorder)

Thoracic spina bifida without hydrocephalus - closed (disorder)

Lumbar spina bifida without hydrocephalus - closed (disorder)

Congenital articular rigidity with myopathy (disorder)

Congenital ichthyosis of skin (disorder)

Sacral spina bifida without hydrocephalus - closed (disorder)

Encephalomyelocele (disorder)

Hydromeningocele - cranial (disorder)

Reduction deformities of brain (disorder)

Lissencephaly (disorder)

Anomalies of cerebrum (disorder)

Congenital malformation of corpus callosum (disorder)

Aplasia of corpus callosum (disorder)

Aplasia of cerebellum (disorder)

Foramen of Magendie atresia (disorder)

Congenital heart disease (disorder)

Foramen of Luschka atresia (disorder)

Multiple brain anomalies (disorder)

Agenesis of eye (disorder)

Posterior segment vascular anomalies (disorder)

Congenital anomalies of eyelid, lacrimal system and orbit (disorder)

Accessory eye muscles (disorder)

Hypoplasia of eye muscle (disorder)

Congenital atresia of the pulmonary valve (disorder)

Anomalous origin of the aortic arch (disorder)

Pulmonary artery atresia (disorder)

Congenital lobulation of kidney (disorder)

Atresia of pulmonary artery with septal defect (disorder)

Pulmonary vein atresia (disorder)

Congenital perforation of the nasal sinus wall (disorder)

Agenesis of larynx (disorder)

Atresia of larynx and trachea (disorder)

Congenital stenosis of larynx, trachea and bronchus (disorder)

Congenital bronchial stenosis (disorder)

Congenital fissure of epiglottis (disorder)

Congenital cleft of posterior cricoid cartilage (disorder)

Bilateral complete cleft palate with cleft lip (disorder)

Ring chromosome 22 syndrome (disorder)

Bilateral incomplete cleft palate with cleft lip (disorder)

Central complete cleft palate with cleft lip (disorder)

Central incomplete cleft palate with cleft lip (disorder)

Cleft hard palate with cleft lip, bilateral (disorder)

Cleft tongue (disorder)

Congenital pharyngeal polyp (disorder)

Congenital esophageal fistula (disorder)

Ectopic gastric mucosa (disorder)

Congenital absence of duodenum (disorder)

Congenital uterovesical fistula (disorder)

Congenital duplication of stomach (disorder)

Renal agenesis and dysgenesis (disorder)

Congenital renal atrophy (disorder)

Renal agenesis (disorder)

Renal dysplasia (disorder)

Renal pelvis and ureter obstructive defects (disorder)

Fusion of kidneys (disorder)

Congenital bladder hernia (disorder)

Congenital talipes calcaneovalgus (disorder)

Congenital pes cavus (disorder)

Congenital claw foot (disorder)

Congenital stricture of urethra (disorder)

Congenital talipes equinus (disorder)

Preaxial polydactyly of toe (disorder)

Postaxial polydactyly of toe (disorder)

Congenital amputation of upper limb (disorder)

Rudimentary arm (disorder)

Cleft hand - first cleft (disorder)

Cleft hand - central (disorder)

Cleft hand with syndactyly (disorder)

Cleft hand with polydactyly (disorder)

Windblown hand (disorder)

Anomaly of chromosome pair 3 (disorder)

Thumb in palm deformity (disorder)

Undergrowth of whole hand (disorder)

Constriction ring of upper limb with acrosyndactyly and amputation (disorder)

Congenital complete absence of upper limb (disorder)

Congenital crossed toes (disorder)

Congenital curly toes (disorder)

Triphalangeal great toe (disorder)

Congenital convex pes valgus (disorder)

Failure of soft tissue differentiation of lower limb (disorder)

Congenital overgrowth of lower limb (disorder)

Congenital anomaly of urethra (disorder)

Congenital undergrowth of foot (disorder)

Constriction ring of lower limb with lymphedema (disorder)

Constriction ring syndrome of lower limb with amputation (disorder)

Sacral agenesis (disorder)

Harlequin ichthyosis (disorder)

Lamellar ichthyosis (disorder)

Monosomy and deletion from autosome (disorder)

Deletion of long arm of chromosome 13 (disorder)

Deletion seen only at prometaphase (disorder)

Whole chromosome monosomy - meiotic nondisjunction (disorder)

Anomalous origin of right subclavian artery (disorder)

Monosomy 21, mosaicism (disorder)

Duplication seen only at prometaphase (disorder)

Duplication with other complex rearrangement (disorder)

Additional sex chromosome (disorder)

Sex chromosome mosaicism (disorder)

46, XX true hermaphrodite (disorder)

Congenital malformation syndromes involving limbs (disorder)

Multiple pterygium syndrome (disorder)

Acephalobrachius (disorder)

Acephalogaster (disorder)

Congenital anomaly of trachea (disorder)

Acephalothorax (disorder)

Congenital disorders of eye and eyelid movements (disorder)

Congenital neuropathy with arthrogryposis multiplex congenita (disorder)

Congenital hypomyelinating neuropathy (disorder)

Congenital and developmental anomalies of the nervous system (disorder)

Late secondary abnormalities of the central nervous system (disorder)

Congenital spastic foot (disorder)

Neuronal choristoma (disorder)

Pulmonary tuberose sclerosis (disorder)

Congenital tracheal fistula (disorder)

Congenital phlebectasia (disorder)

Microstomia (disorder)

Marfan's syndrome affecting skin (disorder)

Capillary malformation (disorder)

Arterial malformation (disorder)

Venous-lymphatic malformation (disorder)

Congenital arteriovenous malformation (disorder)

Cerebral arteriovenous malformation (disorder)

Congenital arteriovenous fistula (disorder)

Congenital arteriovenous fistula of brain (disorder)

Ichthyosis congenita with biliary atresia (disorder)

Congenital renal artery aneurysm (disorder)

Congenital transposition of stomach (disorder)

Congenital familial idiopathic priapism (disorder)

Congenital anomaly of bone and joint (disorder)

Hamartoma of hypothalamus (disorder)

Feminization-adrenogenital syndrome (disorder)

Congenital adrenal hyperplasia (disorder)

Follicular ichthyosis (disorder)

Cutaneous syndrome with ichthyosis (disorder)

Aberrant artery (disorder)

Neural tube defect (disorder)

Congenital endaural hernia (disorder)

Coffin-Lowry syndrome (disorder)

Congenital cerebral hernia (disorder)

Frontal encephalocele (disorder)

Frontoethmoidal encephalocele (disorder)

Nasofrontal encephalocele (disorder)

Nasopharyngeal encephalocele (disorder)

Temporal encephalocele (disorder)

Parietal encephalocele (disorder)

Thoracolumbar spina bifida without hydrocephalus - closed (disorder)

Fissured spine (disorder)

Rachischisis with hydrocephalus (disorder)

Congenital pyloric membrane (disorder)

Myelocele with hydrocephalus (disorder)

Fissured spine with hydrocephalus (disorder)

Closed spina bifida with Arnold-Chiari malformation (disorder)

Thoracolumbar spina bifida with hydrocephalus - closed (disorder)

Hemimyelocele (disorder)

Lipomeningocele (disorder)

Abnormality of neurogenesis (disorder)

Defect of telencephalic division (disorder)

Agenesis of corpus callosum with lipoma (disorder)

Partial agenesis of corpus callosum (disorder)

Encephalocele of orbit (disorder)

Disorder of neuronal migration and differentiation (disorder)

Nodular heterotopia (disorder)

Laminar heterotopia (disorder)

Cortical dysplasia (disorder)

Schizencephaly (disorder)

Colpocephaly (disorder)

Arachnoid / ependymal cyst (disorder)

Microdysgenesis (disorder)

Dysgenesis of the cerebellum (disorder)

Dysgenesis of the brainstem (disorder)

Congenital cleft thyroid cartilage (disorder)

Chiari malformation (disorder)

Congenital malformation of the meninges (disorder)

Orbital dystopia (disorder)

Congenital cardiac rotation (disorder)

Cardiac septal defects (disorder)

Cor triloculare biventriculare (disorder)

Solitary pulmonary trunk with aortic atresia (disorder)

Abnormal inferior vena caval connection (disorder)

Anomalous termination of right pulmonary vein (disorder)

Congenital coronary sinus stenosis (disorder)

21q partial monosomy syndrome (disorder)

Ductus venosus abnormality (disorder)

Abnormal connection of hepatic vein to atrium (disorder)

True cleft of common atrioventricular valve leaflet (disorder)

Pulmonary valve ring hypoplasia (disorder)

Aortic valve ring hypoplasia (disorder)

Aberrant retroesophageal brachiocephalic artery (disorder)

Abnormal origin of ductus arteriosus (disorder)

Collaterals to pulmonary arteries (disorder)

Congenital malformation of trachea and bronchus (disorder)

Congenital tracheoesophageal cleft (disorder)

10q partial monosomy syndrome (disorder)

Congenital malformation of tongue, mouth and pharynx (disorder)

Congenital malformation of salivary glands and ducts (disorder)

Congenital displacement of gastric mucosa (disorder)

Congenital fistula of anus (disorder)

Congenital urethrovaginal fistula (disorder)

Congenital malformation of the urinary system (disorder)

Bifid kidney (disorder)

Congenital calyceal diverticulum (disorder)

Congenital obstructive defect of renal pelvis (disorder)

Megacystis-megaureter syndrome (disorder)

Congenital duodenal stenosis (disorder)

Congenital gastrointestinal-urinary tract fistula (disorder)

Multiple congenital articular rigidities (disorder)

Withered limb (disorder)

Duplication of upper limb (disorder)

Overgrowth of upper limb (disorder)

Undergrowth of upper limb (disorder)

Phocomelia of the upper limb (disorder)

Hypoplasia of upper limb (disorder)

Hitch-hiker thumb (finding)

Mesoaxial polydactyly of toe (disorder)

Ectopic kidney (disorder)

Syndactyly of the thumb (disorder)

Cheilopalatoschisis (disorder)

Bilateral incomplete cleft lip and alveolus (disorder)

Bilateral complete cleft lip and/or alveolus (disorder)

Cleft hard palate, central (disorder)

Cleft hard palate, bilateral (disorder)

Incomplete cleft hard and soft palate (disorder)

Complete cleft hard and soft palate (disorder)

Cleft of soft palate (disorder)

Cleft soft palate, bilateral (disorder)

Central nervous system malformation in fetus affecting obstetrical care 
(disorder)

Anomaly of chromosome pair 15 (disorder)

Complete cleft of soft palate (disorder)

Incomplete cleft of soft palate (disorder)

Occult submucous cleft palate (disorder)

Trichorhinophalangeal dysplasia type I (disorder)

Ichthyosis vulgaris (disorder)

Severe ichthyoses (disorder)

Non-bullous ichthyosiform erythroderma (disorder)

Bullous ichthyosis (disorder)

Ash leaf spot, tuberous sclerosis (disorder)

Pseudotrisomy 18 (disorder)

Talipomanus (disorder)

Triploidy and polyploidy (disorder)

Autosomal deletion - mosaicism (disorder)

Deletion of part of autosome (disorder)

Sex chromosome abnormality - female phenotype (disorder)

Sex chromosome abnormality - male phenotype (disorder)

Bregeat's syndrome (disorder)

Ectopic neuronal tissue (disorder)

Congenital non bullous ichthyosiform erythroderma (disorder)

Adrenogenital disorder (disorder)

Spina bifida with hydrocephalus - open (disorder)

Virilizing syndrome of adrenal origin (disorder)

Spina bifida without hydrocephalus - open (disorder)

Congenital pulmonary artery aneurysm (disorder)

Central incomplete cleft palate (disorder)

Congenital bladder neck stenosis (disorder)

Congenital abnormality of skull and face bones (disorder)

Constriction ring of upper limb with lymphedema (disorder)

Congenital anomalies of elbow and upper arm (disorder)

Chromosome replaced with ring or dicentric (disorder)

Congenital renal failure (disorder)

Anomalous coronary artery communication (disorder)

Anomaly of chromosome pair 13 (disorder)

Central complete cleft palate (disorder)

Triple kidney with triple pelvis (disorder)

Whole chromosome monosomy - mitotic nondisjunction mosaicism (disorder)

Trisomy and partial trisomy of autosome (disorder)

Deletion of long arm of chromosome 18 (disorder)

Deletion of short arm of chromosome 18 (disorder)

Congenital enlarged kidney (disorder)

Congenital renal artery stenosis (disorder)

Congenital abnormality of thoracic aorta and pulmonary arteries (disorder)

Deletion with complex rearrangement (disorder)

Anomalous origin of vein (morphologic abnormality)

Congenital malformation of the respiratory system (disorder)

Congenital malformation of upper alimentary tract (disorder)

Congenital nephritis (disorder)

Congenital uremia (disorder)

Congenital malformation (disorder)

Cerebral dysgenesis (disorder)

Cystic dermoid choristoma of brain (disorder)

Cystic dermoid choristoma of spinal cord (disorder)

Hamartoma of brain (disorder)

Posterior buccal occlusion of mandibular teeth (disorder)

Congenital stenosis of aortic valve (disorder)

Atelencephaly (disorder)

Aprosencephaly (disorder)

Combined malformation of central nervous system and skeletal muscle (disorder)

Congenital non-progressive ataxia (disorder)

Congenital hydrocalicosis (disorder)

Arterial embryological remnant (disorder)

Vestigial gastrointestinal remnant (disorder)

Congenital arterial aneurysm (disorder)

Congenital anomaly of nervous system of head/neck (disorder)

Congenital abnormality of ductus arteriosus (disorder)

Congenital sequestration of lung (disorder)

Congenital rearfoot valgus (disorder)

Congenital forefoot valgus (disorder)

Hydrocephalus associated with congenital aqueduct stenosis (disorder)

Congenital fistula of rectum and anus (disorder)

Transverse deficiency of hand (disorder)

Duplication of lower limb (disorder)

Discharge to hospital (procedure)

Discharge to community hospital (procedure)

Congenital athetosis (disorder)

Brachydactyly of hand (disorder)

Cleft uvula (disorder)

Cleft upper lip, upper jaw AND palate (disorder)

Cheilognathouranoschisis (disorder)

Cheilognathopalatoschisis (disorder)

Disorder of artery (disorder)

Incomplete anencephaly (disorder)

Congenital epulis of newborn (disorder)

Congenital arteriovenous fistula of kidney (disorder)

Anomaly of chromosome pair (disorder)

Branchial cleft anomaly (disorder)

Congenital anomaly of cardiovascular structure of trunk (disorder)

Congenital cerebral cyst (disorder)

Congenital anomaly of musculoskeletal structure of trunk (disorder)

Congenital anomaly of neural structure of trunk (disorder)

Hereditary disorder of the integument (disorder)

Congenital atresia of nares (disorder)

Hepatoportal microvascular dysplasia (disorder)

Immature autonomic system (disorder)

Disorder of eye proper (disorder)

Cleft lip and alveolus (disorder)

Trichorhinophalangeal dysplasia type III (disorder)

Congenital ectopic pupil (disorder)

Marfan's syndrome (disorder)

Congenital septal defect (morphologic abnormality)

Congenital valvular insufficiency (morphologic abnormality)

Congenital hamartoma (disorder)

Congenital vascular disorder (disorder)

Mixed vascular malformation (disorder)

Cutaneous vascular malformation (disorder)

Congenital vascular malformation (disorder)

Dysplasia of cerebral cortex (disorder)

Autosomal dominant ichthyosis (disorder)

X-linked recessive ichthyosis (disorder)

Congenital absence of urethra (disorder)

Congenital anomaly of eye (disorder)

Autosomal recessive ichthyosis (disorder)

XXYY syndrome (disorder)

Congenital atrial septal defect (disorder)

Hydrencephalomeningocele (disorder)

Hypospadias (disorder)

Vein of Galen malformation (disorder)

Holoanencephaly (disorder)

Partial absence of septum pellucidum (disorder)

Spina bifida aperta of cervical spine (disorder)

Spina bifida aperta of thoracic spine (disorder)

8p partial monosomy syndrome (disorder)

Congenital vascular malformation of lip (disorder)

Congenital vascular malformation of orbit (disorder)

Congenital anomaly of anterior segment of eye (disorder)

Spina bifida aperta of lumbar spine (disorder)

Congenital anomaly of renal blood vessel (disorder)

Bulboventricular foramen (morphologic abnormality)

Cor triatriatum orifice (morphologic abnormality)

Congenital deformity of pharynx (disorder)

Encephalocele of vertex (disorder)

Cleft of alveolar ridge (disorder)

22q partial monosomy syndrome (disorder)

Spina bifida of sacral region (disorder)

Congenital malformation of blood vessel of orbit proper (disorder)

Intracardiac location of anomalous pulmonary venous connections to bilateral 
isomeric atriums (disorder)

Pulmonary venous hypoplasia (disorder)

Persistent common pulmonary vein (disorder)

Alveolar capillary dysplasia with pulmonary venous misalignment (disorder)

Diverticulum of coronary sinus (disorder)

Discontinuous pulmonary arteries (disorder)

Congenital abnormality of hepatic vein (disorder)

Total anomalous pulmonary venous connection of supracardiac type (disorder)

Sturge-Weber syndrome (disorder)

Total anomalous pulmonary venous connection of intracardiac type (disorder)

Right superior vena cava connecting to left atrium and right atrium (disorder)

Atresia of systemic vein (disorder)

Hepatic vein to coronary sinus (disorder)

Aberrant origin of left subclavian artery (disorder)

Right superior vena cava connecting to coronary sinus (disorder)

Anomalous coronary venous return (disorder)

Right inferior vena cava connecting to left atrium and right atrium (disorder)

Congenital abnormality of pulmonary trunk (disorder)

Anomalous pulmonary to systemic collateral vein (disorder)

Exstrophy of cloaca sequence (disorder)

Anomalous pulmonary venous connection of mixed type (disorder)

Stomach in central position (disorder)

Stomach in right sided position (disorder)

Infracardiac location of anomalous pulmonary venous connection (disorder)

Intracardiac location of anomalous pulmonary venous connection (disorder)

Total anomalous pulmonary venous connection of infracardiac type (disorder)

Right inferior vena cava connecting to left sided atrium (disorder)

Left inferior vena cava connecting to left atrium and right atrium (disorder)

Bilateral bilobed lungs due to isomerism of left lung (disorder)

Parallel course of aorta and pulmonary artery (disorder)

Cockayne syndrome (disorder)

Total anomalous pulmonary venous connections of mixed type (disorder)

Supracardiac location of anomalous pulmonary venous connection (disorder)

Cleft of hard palate (disorder)

Inferior vena cava connecting to right atrium and left atrium (disorder)

Pulmonary artery connecting to coronary artery via collateral artery (disorder)

Orofacial cleft (disorder)

22q11 partial monosomy syndrome (disorder)

3p partial monosomy syndrome (disorder)

Bilateral ductus arteriosus (disorder)

Borjeson-Forssman-Lehmann syndrome (disorder)

Congenital anomaly of the peripheral nervous system (disorder)

Congenital absence of bladder (disorder)

Congenital absence of salivary gland (disorder)

Congenital anomaly of vena cava (disorder)

Macrogyria (disorder)

Congenital atresia of mitral valve (disorder)

Ring chromosome 20 syndrome (disorder)

Congenital anomaly of peripheral nerve (disorder)

Complete bilateral cleft palate (disorder)

Meromicrosomia (disorder)

7p partial monosomy syndrome (disorder)

Congenital absence of uvula (disorder)

Aqueduct of Sylvius anomaly (disorder)

Complete transposition of great vessels (disorder)

Adrenogenital disorders

Microcephalus

Upper limb vessel anomaly

Lower limb vessel anomaly

Anomalies of other specified sites of peripheral vascular system

Anomalies of cerebrovascular system

Spinal vessel anomaly

Persistent fetal circulation

Other specified anomalies of circulatory system

Unspecified anomaly of circulatory system

Other anomalies of nose

Web of larynx

Congenital reduction deformities of brain

Other anomalies of larynx, trachea, and bronchus

Congenital cystic lung

Agenesis, hypoplasia, and dysplasia of lung

Congenital bronchiectasis

Other congenital anomalies of lung

Other specified anomalies of respiratory system

Unspecified anomaly of respiratory system

Cleft palate, unilateral, complete

Cleft palate, unilateral, incomplete

Cleft palate, bilateral, complete

Congenital hydrocephalus

Cleft palate, bilateral, incomplete

Cleft lip, unilateral, complete

Cleft lip, unilateral, incomplete

Cleft lip, bilateral, complete

Cleft lip, bilateral, incomplete

Cleft palate with cleft lip, unilateral, complete

Cleft palate with cleft lip, unilateral, incomplete

Cleft palate with cleft lip, bilateral, complete

Cleft palate with cleft lip, bilateral, incomplete

Other combinations of cleft palate with cleft lip

Other specified congenital anomalies of brain

Tracheoesophageal fistula, esophageal atresia and stenosis

Other specified anomalies of esophagus

Congenital hypertrophic pyloric stenosis

Congenital hiatus hernia

Other specified anomalies of stomach

Other specified anomalies of upper alimentary tract

Unspecified anomaly of upper alimentary tract

Atresia and stenosis of small intestine

Atresia and stenosis of large intestine, rectum, and anal canal

Hirschsprung's disease and other congenital functional disorders of colon

Diastematomyelia

Anomalies of intestinal fixation

Other anomalies of intestine

Biliary atresia

Congenital cystic disease of liver

Other anomalies of gallbladder, bile ducts, and liver

Anomalies of pancreas

Other specified anomalies of digestive system

Unspecified anomaly of digestive system

Congenital single renal cyst

Polycystic kidney, unspecified type

Hydromyelia

Polycystic kidney, autosomal dominant

Polycystic kidney, autosomal recessive

Renal dysplasia

Medullary cystic kidney

Medullary sponge kidney

Other specified cystic kidney disease

Congenital obstruction of ureteropelvic junction

Congenital obstruction of ureterovesical junction

Congenital ureterocele

Other obstructive defects of renal pelvis and ureter

Other specified congenital anomalies of spinal cord

Other specified anomalies of kidney

Other specified anomalies of ureter

Exstrophy of urinary bladder

Atresia and stenosis of urethra and bladder neck

Other specified anomalies of bladder and urethra

Unspecified anomaly of urinary system

Congenital musculoskeletal deformities of sternocleidomastoid muscle

Congenital musculoskeletal deformities of spine

Congenital dislocation of hip, bilateral

Congenital subluxation of hip, unilateral

Other specified congenital anomalies of nervous system

Congenital subluxation of hip, bilateral

Congenital dislocation of one hip with subluxation of other hip

Congenital dislocation of knee (with genu recurvatum)

Congenital bowing of femur

Congenital bowing of tibia and fibula

Congenital bowing of unspecified long bones of leg

Talipes equinovarus

Metatarsus primus varus

Metatarsus varus

Other varus deformities of feet

Unspecified congenital anomaly of brain, spinal cord, and nervous system

Congenital pes planus

Talipes calcaneovalgus

Other valgus deformities of feet

Talipes cavus

Other deformities of feet

Pectus excavatum

Pectus carinatum

Other specified nonteratogenic anomalies

Ichthyosis congenita

Patau's syndrome

Cystic eyeball, congenital

Edwards' syndrome

Cri-du-chat syndrome

Velo-cardio-facial syndrome

Other microdeletions

Other autosomal deletions

Other conditions due to autosomal anomalies

Gonadal dysgenesis

Other conditions due to sex chromosome anomalies

Other conditions due to chromosome anomalies

Conditions due to anomaly of unspecified chromosome

Craniorachischisis

Cryptophthalmos

Tuberous sclerosis

Other hamartoses, not elsewhere classified

Multiple congenital anomalies, so described

Prader-Willi syndrome

Marfan syndrome

Fragile X syndrome

Other specified congenital anomalies

Congenital anomaly, unspecified

Anencephalus

Spina bifida with hydrocephalus, unspecified region

Simple microphthalmos

Spina bifida without mention of hydrocephalus, unspecified region

Encephalocele

Clinical anophthalmos, unspecified

Microphthalmos, unspecified

Buphthalmos, unspecified

Congenital cataract, unspecified

Common truncus

Complete transposition of great vessels

Endocardial cushion defect, unspecified type

Congenital pulmonary valve anomaly, unspecified

Microphthalmos associated with other anomalies of eye and adnexa

Patent ductus arteriosus

Coarctation of aorta (preductal) (postductal)

Anomaly of aorta, unspecified

Anomaly of great veins, unspecified

Anomaly of the peripheral vascular system, unspecified site

Choanal atresia

Anomaly of lung, unspecified

Cleft palate, unspecified

Cleft lip, unspecified

Cleft palate with cleft lip, unspecified

Simple buphthalmos

Meckel's diverticulum

Unspecified anomaly of gallbladder, bile ducts, and liver

Renal agenesis and dysgenesis

Cystic kidney disease, unspecified

Unspecified obstructive defect of renal pelvis and ureter

Congenital musculoskeletal deformities of skull, face, and jaw

Congenital dislocation of hip, unilateral

Genu recurvatum

Talipes varus

Talipes valgus

Buphthalmos associated with other ocular anomalies

Talipes, unspecified

Down's syndrome

Congenital capsular and subcapsular cataract

Congenital cortical and zonular cataract

Congenital nuclear cataract

Total and subtotal cataract, congenital

Congenital aphakia

Iniencephaly

Congenital anomalies of lens shape

Congenital ectopic lens

Other congenital cataract and lens anomalies

Congenital anomalies of corneal size and shape

Corneal opacities, interfering with vision, congenital

Other corneal opacities, congenital

Specified congenital anomalies of anterior chamber, chamber angle, and 
related structures

Aniridia

Other specified congenital anomalies of iris and ciliary body

Specified congenital anomalies of sclera

Spina bifida with hydrocephalus, cervical region

Multiple and combined congenital anomalies of anterior segment

Other congenital anomalies of anterior segment

Vitreous anomalies

Fundus coloboma

Chorioretinal degeneration, congenital

Congenital folds and cysts of posterior segment

Congenital macular changes

Other retinal changes, congenital

Specified congenital anomalies of optic disc

Vascular anomalies

Spina bifida with hydrocephalus, dorsal (thoracic) region

Other congenital anomalies of posterior segment

Congenital ptosis

Congenital deformities of eyelids

Other specified congenital anomalies of eyelid

Specified congenital anomalies of lacrimal gland

Specified congenital anomalies of lacrimal passages

Specified congenital anomalies of orbit

Other congenital anomalies of eyelids, lacrimal system, and orbit

Other specified anomalies of eye

Unspecified anomaly of eye

Spina bifida with hydrocephalus, lumbar region

Double outlet right ventricle

Corrected transposition of great vessels

Other transposition of great vessels

Tetralogy of fallot

Common ventricle

Ventricular septal defect

Ostium secundum type atrial septal defect

Ostium primum defect

Other endocardial cushion defects

Cor biloculare

Spina bifida without mention of hydrocephalus, cervical region

Other bulbus cordis anomalies and anomalies of cardiac septal closure

Unspecified defect of septal closure

Atresia of pulmonary valve, congenital

Stenosis of pulmonary valve, congenital

Other congenital anomalies of pulmonary valve

Tricuspid atresia and stenosis, congenital

Ebstein's anomaly

Congenital stenosis of aortic valve

Congenital insufficiency of aortic valve

Congenital mitral stenosis

Spina bifida without mention of hydrocephalus, dorsal (thoracic) region

Congenital mitral insufficiency

Hypoplastic left heart syndrome

Subaortic stenosis

Cor triatriatum

Infundibular pulmonic stenosis

Obstructive anomalies of heart, not elsewhere classified

Coronary artery anomaly

Congenital heart block

Malposition of heart and cardiac apex

Other specified congenital anomalies of heart

Spina bifida without mention of hydrocephalus, lumbar region

Unspecified congenital anomaly of heart

Interruption of aortic arch

Anomalies of aortic arch

Atresia and stenosis of aorta

Other anomalies of aorta

Total anomalous pulmonary venous connection

Partial anomalous pulmonary venous connection

Other anomalies of great veins

Gastrointestinal vessel anomaly

Renal vessel anomaly

Congenital adrenogenital disorders associated with enzyme deficiency

Encephalocele of other sites

Congenital pulmonary valve insufficiency

Other congenital malformations of pulmonary valve

Congenital tricuspid stenosis

Ebstein's anomaly

Hypoplastic right heart syndrome

Other congenital malformations of tricuspid valve

Congenital malformation of tricuspid valve, unspecified

Congenital stenosis of aortic valve

Congenital insufficiency of aortic valve

Congenital mitral stenosis

Encephalocele, unspecified

Congenital mitral insufficiency

Hypoplastic left heart syndrome

Other congenital malformations of aortic and mitral valves

Congenital malformation of aortic and mitral valves, unspecified

Dextrocardia

Levocardia

Cor triatriatum

Pulmonary infundibular stenosis

Congenital subaortic stenosis

Malformation of coronary vessels

Microcephaly

Congenital heart block

Other specified congenital malformations of heart

Congenital malformation of heart, unspecified

Patent ductus arteriosus

Coarctation of aorta

Atresia of aorta

Supravalvular aortic stenosis

Other congenital malformations of aorta

Atresia of pulmonary artery

Coarctation of pulmonary artery

Malformations of aqueduct of Sylvius

Congenital pulmonary arteriovenous malformation

Other congenital malformations of pulmonary artery

Other congenital malformations of other great arteries

Congenital malformation of great arteries, unspecified

Congenital stenosis of vena cava

Persistent left superior vena cava

Total anomalous pulmonary venous connection

Partial anomalous pulmonary venous connection

Anomalous pulmonary venous connection, unspecified

Anomalous portal venous connection

Atresia of foramina of Magendie and Luschka

Portal vein-hepatic artery fistula

Other congenital malformations of great veins

Congenital malformation of great vein, unspecified

Congenital absence and hypoplasia of umbilical artery

Congenital renal artery stenosis

Other congenital malformations of renal artery

Arteriovenous malformation, site unspecified

Arteriovenous malformation of vessel of upper limb

Arteriovenous malformation of vessel of lower limb

Arteriovenous malformation of digestive system vessel

Other congenital hydrocephalus

Arteriovenous malformation of renal vessel

Arteriovenous malformation, other site

Congenital phlebectasia

Other specified congenital malformations of peripheral vascular system

Arteriovenous malformation of precerebral vessels

Other malformations of precerebral vessels

Arteriovenous malformation of cerebral vessels

Other malformations of cerebral vessels

Other specified congenital malformations of circulatory system

Congenital malformation of circulatory system, unspecified

Congenital hydrocephalus, unspecified

Choanal atresia

Agenesis and underdevelopment of nose

Fissured, notched and cleft nose

Congenital perforated nasal septum

Other congenital malformations of nose

Congenital malformation of nose, unspecified

Web of larynx

Congenital subglottic stenosis

Laryngeal hypoplasia

Laryngocele

Congenital malformations of corpus callosum

Congenital laryngomalacia

Other congenital malformations of larynx

Congenital malformation of larynx, unspecified

Congenital tracheomalacia

Other congenital malformations of trachea

Congenital bronchomalacia

Congenital stenosis of bronchus

Other congenital malformations of bronchus

Congenital cystic lung

Accessory lobe of lung

Arhinencephaly

Sequestration of lung

Agenesis of lung

Congenital bronchiectasis

Ectopic tissue in lung

Congenital hypoplasia and dysplasia of lung

Other congenital malformations of lung

Congenital malformation of lung, unspecified

Anomaly of pleura

Congenital cyst of mediastinum

Other specified congenital malformations of respiratory system

Holoprosencephaly

Congenital malformation of respiratory system, unspecified

Cleft hard palate

Cleft soft palate

Cleft hard palate with cleft soft palate

Cleft uvula

Cleft palate, unspecified

Cleft lip, bilateral

Cleft lip, median

Cleft lip, unilateral

Cleft hard palate with bilateral cleft lip

Other adrenogenital disorders

Other reduction deformities of brain

Cleft hard palate with unilateral cleft lip

Cleft soft palate with bilateral cleft lip

Cleft soft palate with unilateral cleft lip

Cleft hard and soft palate with bilateral cleft lip

Cleft hard and soft palate with unilateral cleft lip

Unspecified cleft palate with bilateral cleft lip

Unspecified cleft palate with unilateral cleft lip

Congenital malformations of salivary glands and ducts

Atresia of esophagus without fistula

Atresia of esophagus with tracheo-esophageal fistula

Septo-optic dysplasia of brain

Congenital tracheo-esophageal fistula without atresia

Congenital stenosis and stricture of esophagus

Esophageal web

Congenital dilatation of esophagus

Congenital diverticulum of esophagus

Other congenital malformations of esophagus

Congenital malformation of esophagus, unspecified

Congenital hypertrophic pyloric stenosis

Congenital hiatus hernia

Other specified congenital malformations of stomach

Megalencephaly

Congenital malformation of stomach, unspecified

Other specified congenital malformations of upper alimentary tract

Congenital malformation of upper alimentary tract, unspecified

Congenital absence, atresia and stenosis of duodenum

Congenital absence, atresia and stenosis of jejunum

Congenital absence, atresia and stenosis of ileum

Congenital absence, atresia and stenosis of other specified parts of small 
intestine

Congenital absence, atresia and stenosis of small intestine, part unspecified

Congenital absence, atresia and stenosis of rectum with fistula

Congenital absence, atresia and stenosis of rectum without fistula

Congenital cerebral cysts

Congenital absence, atresia and stenosis of anus with fistula

Congenital absence, atresia and stenosis of anus without fistula

Congenital absence, atresia and stenosis of other parts of large intestine

Congenital absence, atresia and stenosis of large intestine, part unspecified

Meckel's diverticulum (displaced) (hypertrophic)

Hirschsprung's disease

Other congenital functional disorders of colon

Congenital malformations of intestinal fixation

Duplication of intestine

Ectopic anus

Other specified congenital malformations of brain

Congenital fistula of rectum and anus

Persistent cloaca

Other specified congenital malformations of intestine

Congenital malformation of intestine, unspecified

Agenesis, aplasia and hypoplasia of gallbladder

Other congenital malformations of gallbladder

Atresia of bile ducts

Congenital stenosis and stricture of bile ducts

Choledochal cyst

Other congenital malformations of bile ducts

Congenital malformation of brain, unspecified

Cystic disease of liver

Other congenital malformations of liver

Agenesis, aplasia and hypoplasia of pancreas

Annular pancreas

Congenital pancreatic cyst

Other congenital malformations of pancreas and pancreatic duct

Other specified congenital malformations of digestive system

Congenital malformation of digestive system, unspecified

Renal agenesis, unilateral

Renal agenesis, bilateral

Cervical spina bifida with hydrocephalus

Renal agenesis, unspecified

Renal hypoplasia, unilateral

Renal hypoplasia, bilateral

Renal hypoplasia, unspecified

Potter's syndrome

Congenital renal cyst, unspecified

Congenital single renal cyst

Congenital multiple renal cysts

Cystic dilatation of collecting ducts

Other polycystic kidney, infantile type

Thoracic spina bifida with hydrocephalus

Polycystic kidney, adult type

Polycystic kidney, unspecified

Renal dysplasia

Medullary cystic kidney

Other cystic kidney diseases

Cystic kidney disease, unspecified

Congenital hydronephrosis

Congenital occlusion of ureter, unspecified

Congenital occlusion of ureteropelvic junction

Congenital occlusion of ureterovesical orifice

Lumbar spina bifida with hydrocephalus

Congenital megaureter

Congenital ureterocele, orthotopic

Cecoureterocele

Other obstructive defects of renal pelvis and ureter

Agenesis of ureter

Duplication of ureter

Malposition of ureter, unspecified

Deviation of ureter

Displacement of ureter

Anomalous implantation of ureter

Unspecified spina bifida with hydrocephalus

Other malposition of ureter

Congenital vesico-uretero-renal reflux

Other congenital malformations of ureter

Accessory kidney

Lobulated, fused and horseshoe kidney

Ectopic kidney

Hyperplastic and giant kidney

Other specified congenital malformations of kidney

Congenital malformation of kidney, unspecified

Epispadias

Adrenogenital disorder, unspecified

Cervical spina bifida without hydrocephalus

Exstrophy of urinary bladder, unspecified

Supravesical fissure of urinary bladder

Cloacal extrophy of urinary bladder

Other exstrophy of urinary bladder

Congenital posterior urethral valves

Congenital bladder neck obstruction

Congenital stricture of urethra

Congenital stricture of urinary meatus

Other atresia and stenosis of urethra and bladder neck

Congenital absence of bladder and urethra

Thoracic spina bifida without hydrocephalus

Congenital diverticulum of bladder

Unspecified congenital malformation of bladder and urethra

Congenital prolapse of urethra

Congenital prolapse of urinary meatus

Congenital urethrorectal fistula

Double urethra

Double urinary meatus

Other congenital malformations of bladder and urethra

Other specified congenital malformations of urinary system

Congenital malformation of urinary system, unspecified

Lumbar spina bifida without hydrocephalus

Congenital dislocation of unspecified hip, unilateral

Congenital dislocation of right hip, unilateral

Congenital dislocation of left hip, unilateral

Congenital dislocation of hip, bilateral

Congenital dislocation of hip, unspecified

Congenital partial dislocation of unspecified hip, unilateral

Congenital partial dislocation of right hip, unilateral

Congenital partial dislocation of left hip, unilateral

Congenital partial dislocation of hip, bilateral

Congenital partial dislocation of hip, unspecified

Sacral spina bifida without hydrocephalus

Congenital unstable hip

Congenital coxa valga

Congenital coxa vara

Other specified congenital deformities of hip

Congenital deformity of hip, unspecified

Congenital talipes equinovarus

Congenital talipes calcaneovarus

Congenital metatarsus (primus) varus

Other congenital varus deformities of feet

Congenital talipes calcaneovalgus

Amyelia

Congenital pes planus, unspecified foot

Congenital pes planus, right foot

Congenital pes planus, left foot

Other congenital valgus deformities of feet

Congenital pes cavus

Congenital vertical talus deformity, unspecified foot

Congenital vertical talus deformity, right foot

Congenital vertical talus deformity, left foot

Other specified congenital deformities of feet

Congenital deformity of feet, unspecified

Hypoplasia and dysplasia of spinal cord

Congenital facial asymmetry

Congenital compression facies

Dolichocephaly

Plagiocephaly

Other congenital deformities of skull, face and jaw

Congenital deformity of spine

Pectus excavatum

Pectus carinatum

Other congenital deformities of chest

Congenital deformity of sternocleidomastoid muscle

Diastematomyelia

Congenital deformity of finger(s) and hand

Congenital deformity of knee

Congenital bowing of femur

Congenital bowing of long bones of leg, unspecified

Discoid meniscus

Other specified congenital musculoskeletal deformities

Arthrogryposis multiplex congenita

Congenital scoliosis due to congenital bony malformation

Congenital lordosis, thoracolumbar region

Congenital lordosis, lumbar region

Other congenital cauda equina malformations

Congenital lordosis, lumbosacral region

Congenital lordosis, sacral and sacrococcygeal region

Congenital lordosis, unspecified region

Ichthyosis vulgaris

X-linked ichthyosis

Lamellar ichthyosis

Congenital bullous ichthyosiform erythroderma

Harlequin fetus

Other congenital ichthyosis

Congenital ichthyosis, unspecified

Hydromyelia

Tuberous sclerosis

Other phakomatoses, not elsewhere classified

Phakomatosis, unspecified

Congenital malformation syndromes predominantly associated with short stature

Congenital malformation syndromes predominantly involving limbs

Congenital malformation syndromes involving early overgrowth

Marfan's syndrome, unspecified

Marfan's syndrome with aortic dilation

Marfan's syndrome with other cardiovascular manifestations

Marfan's syndrome with ocular manifestations

Other specified congenital malformations of spinal cord

Marfan's syndrome with skeletal manifestation

Other congenital malformation syndromes with other skeletal changes

Alport syndrome

Other specified congenital malformation syndromes, not elsewhere classified

Multiple congenital malformations, not elsewhere classified

Other specified congenital malformations

Congenital malformation, unspecified

Trisomy 21, nonmosaicism (meiotic nondisjunction)

Trisomy 21, mosaicism (mitotic nondisjunction)

Trisomy 21, translocation

Barth syndrome

Congenital malformation of spinal cord, unspecified

Down syndrome, unspecified

Trisomy 18, nonmosaicism (meiotic nondisjunction)

Trisomy 18, mosaicism (mitotic nondisjunction)

Trisomy 18, translocation

Trisomy 18, unspecified

Trisomy 13, nonmosaicism (meiotic nondisjunction)

Trisomy 13, mosaicism (mitotic nondisjunction)

Trisomy 13, translocation

Trisomy 13, unspecified

Whole chromosome trisomy, nonmosaicism (meiotic nondisjunction)

Arnold-Chiari syndrome with spina bifida

Whole chromosome trisomy, mosaicism (mitotic nondisjunction)

Partial trisomy

Duplications with other complex rearrangements

Marker chromosomes in abnormal individual

Triploidy and polyploidy

Other specified trisomies and partial trisomies of autosomes

Trisomy and partial trisomy of autosomes, unspecified

Whole chromosome monosomy, nonmosaicism (meiotic nondisjunction)

Whole chromosome monosomy, mosaicism (mitotic nondisjunction)

Chromosome replaced with ring, dicentric or isochromosome

Arnold-Chiari syndrome with hydrocephalus

Deletion of short arm of chromosome 4

Deletion of short arm of chromosome 5

Other deletions of part of a chromosome

Deletions with other complex rearrangements

Velo-cardio-facial syndrome

Other microdeletions

Other deletions from the autosomes

Deletion from autosomes, unspecified

Balanced autosomal rearrangement in abnormal individual

Balanced sex/autosomal rearrangement in abnormal individual

Arnold-Chiari syndrome with spina bifida and hydrocephalus

Karyotype 45, X

Karyotype 46, X iso (Xq)

Karyotype 46, X with abnormal sex chromosome, except iso (Xq)

Mosaicism, 45, X/46, XX or XY

Mosaicism, 45, X/other cell line(s) with abnormal sex chromosome

Other variants of Turner's syndrome

Turner's syndrome, unspecified

Karyotype 47, XXX

Female with more than three X chromosomes

Mosaicism, lines with various numbers of X chromosomes

Other specified congenital malformations of nervous system

Female with 46, XY karyotype

Other specified sex chromosome abnormalities, female phenotype

Sex chromosome abnormality, female phenotype, unspecified

Karyotype 47, XYY

Male with structurally abnormal sex chromosome

Male with sex chromosome mosaicism

Other specified sex chromosome abnormalities, male phenotype

Sex chromosome abnormality, male phenotype, unspecified

Chimera 46, XX/46, XY

46, XX true hermaphrodite

Congenital malformation of nervous system, unspecified

Fragile X chromosome

Other specified chromosome abnormalities

Chromosomal abnormality, unspecified

Congenital ptosis

Congenital ectropion

Congenital entropion

Other congenital malformations of eyelid

Smith-Lemli-Opitz syndrome

Absence and agenesis of lacrimal apparatus

Congenital stenosis and stricture of lacrimal duct

Other congenital malformations of lacrimal apparatus

Congenital malformation of orbit

Cystic eyeball

Other anophthalmos

Microphthalmos

Macrophthalmos

Congenital cataract

Congenital displaced lens

Familial dysautonomia [Riley-Day]

Coloboma of lens

Congenital aphakia

Spherophakia

Other congenital lens malformations

Congenital lens malformation, unspecified

Coloboma of iris

Absence of iris

Other congenital malformations of iris

Congenital corneal opacity

Other congenital corneal malformations

Frontal encephalocele

Blue sclera

Rieger's anomaly

Other congenital malformations of anterior segment of eye

Congenital malformation of anterior segment of eye, unspecified

Congenital malformation of vitreous humor

Congenital malformation of retina

Congenital malformation of optic disc

Congenital malformation of choroid

Other congenital malformations of posterior segment of eye

Congenital malformation of posterior segment of eye, unspecified

Nasofrontal encephalocele

Congenital glaucoma

Other specified congenital malformations of eye

Common arterial trunk

Double outlet right ventricle

Double outlet left ventricle

Discordant ventriculoarterial connection

Double inlet ventricle

Discordant atrioventricular connection

Isomerism of atrial appendages

Other congenital malformations of cardiac chambers and connections

Occipital encephalocele

Congenital malformation of cardiac chambers and connections, unspecified

Ventricular septal defect

Atrial septal defect

Atrioventricular septal defect

Tetralogy of Fallot

Aortopulmonary septal defect

Other congenital malformations of cardiac septa

Congenital malformation of cardiac septum, unspecified

Pulmonary valve atresia

Congenital pulmonary valve stenosis