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All Anomalies
Nervous system
Neural Tube Defects
Anencephalus and similar
Encephalocele
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Eye
Anophthalmos/micropthalmos
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Congenital heart defects
Severe CHD §
Common arterial truncus
Transposition of great vessels
Single ventricle
Ventricular septal defect
Atrial septal defect
Atrioventricular septal defect
Tetralogy of Fallot
Tricuspid atresia and stenosis
Ebstein's anomaly
Pulmonary valve stenosis
Pulmonary valve atresia
Aortic valve atresia/stenosis §
Hypoplastic left heart
Hypoplastic right heart §
Coarctation of aorta
Total anomalous pulm venous return
PDA as only CHD in term infants (>=37 weeks)
Respiratory
Choanal atresia
Cystic adenomatous malf of lung §
Oro-facial clefts
Cleft lip with or without palate
Cleft palate
Digestive system
Oesophageal atresia with or without tracheo-oesophageal fistula
Duodenal atresia or stenosis
Atresia or stenosis of other parts of small intestine
Ano-rectal atresia and stenosis
Hirschsprung's disease
Atresia of bile ducts
Annular pancreas
Diaphragmatic hernia
Abdominal wall defects
Gastroschisis
Omphalocele
Urinary
Bilateral renal agenesis including Potter syndrome
Renal dysplasia
Congenital hydronephrosis
Bladder exstrophy and/or epispadia
Posterior urethral valve and/or prune belly
Genital
Hypospadias
Indeterminate sex
Limb
Limb reduction
Upper limb reduction
Lower limb reduction
Complete absence of a limb
Club foot - talipes equinovarus
Hip dislocation and/or dysplasia
Polydactyly
Syndactyly
Skeletal dysplasias §
Craniosynostosis
Congenital constriction bands/amniotic band
Situs inversus
Conjoined twins
Congenital skin disorders
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Fetal alcohol syndrome §
Valproate syndrome §
Maternal infections resulting in malformations
Genetic syndromes + microdeletions
Sequences
Chromosomal
Down Syndrome
Patau syndrome/trisomy 13
Edwards syndrome/trisomy 18
Turner syndrome
Klinefelter syndrome
Anomalies outside normal range
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