None | NONE |
Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) |
|
Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Absent cavum septum pellucidum (CSP) | FA0020 |
Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Absent cerebellar vermis | FA0030 |
Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Acrania or Anencephaly | FA1740 |
Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Arachnoid cyst(s) | FA0070 |
Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Arnold Chiari Malformation | FA0080 |
Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Aqueductal stenosis | FA1750 |
Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Corpus Callosum - Agenesis (ACC) | FA0050 |
Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Corpus Callosum - Hypoplasia | FA0140 |
Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Dandy walker malformation/ variant (DWM) | FA0090 |
Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Encephalocele | FA0100 |
Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Enlarged cisterna magna | FA0110 |
Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Holoprosencephaly | FA0120 |
Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Hydrocephalus | FA0130 |
Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Hypotonia, unspecified | FA1760 |
Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Lissencephaly | FA0160 |
Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Macrocephaly | FA1770 |
Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Microcephaly | FA0170 |
Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Polymicrogyria | FA0180 |
Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Posterior fossa cyst | FA0190 |
Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Sacral agenesis | FA0200 |
Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Sacrococcygeal teratoma (SCT) | FA0210 |
Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Seizures | FA1780 |
Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Spina Bifida with hydrocephalus | FA0220 |
Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Spina Bifida without hydrocephalus | FA0230 |
Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Ventriculomegaly - Mild-Moderate (11-14.9 mm) | FA0240 |
Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Ventriculomegaly - Severe (>15 mm) | FA0250 |
Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Other - malformations of the nervous system | FA1790 |
Central Nervous System (CNS) Anomalies & Neural Tube Defects (NTD) \ Other - malformations of the brain | FA0260 |
Eye Anomalies |
|
Eye Anomalies \ Anophthalmos | FA0280 |
Eye Anomalies \ Congenital cataract | FA1800 |
Eye Anomalies \ Congenital glaucoma | FA1810 |
Eye Anomalies \ Microphthalmos | FA0290 |
Eye Anomalies \ Other - malformations of eye | FA0300 |
Ear, Face and Neck Anomalies |
|
Ear, Face and Neck Anomalies \ Choanal atresia | FA0340 |
Ear, Face and Neck Anomalies \ Ears - Anotia | FA0320 |
Ear, Face and Neck Anomalies \ Ears - Microtia | FA0330 |
Ear, Face and Neck Anomalies \ Macroglossia | FA1820 |
Ear, Face and Neck Anomalies \ Micrognathia | FA1830 |
Ear, Face and Neck Anomalies \ Nose - Absent | FA1840 |
Ear, Face and Neck Anomalies \ Nose - Hypoplastic | FA1850 |
Ear, Face and Neck Anomalies \ Retrognathia | FA1860 |
Ear, Face and Neck Anomalies \ Other - malformations of ear | FA0350 |
Ear, Face and Neck Anomalies \ Other - malformations of the face and neck | FA0360 |
Oro-facial Clefts |
|
Oro-facial Clefts \ Cleft lip | FA0380 |
Oro-facial Clefts \ Cleft lip with cleft palate | FA0400 |
Oro-facial Clefts \ Cleft palate | FA0390 |
Oro-facial Clefts \ Pierre Robin Sequence | FA1870 |
Thorax Anomalies |
|
Thorax Anomalies \ Bronchopulmonary sequestration (BPS) | FA0420 |
Thorax Anomalies \ Congenital high airway obstruction (CHAOS) | FA0430 |
Thorax Anomalies \ Cystic adenomatous malformation of lung (CCAM) | FA0440 |
Thorax Anomalies \ Diaphragmatic hernia (CDH) | FA0450 |
Thorax Anomalies \ Other - congenital malformations of lung | FA0470 |
Thorax Anomalies \ Other - malformations of the diaphragm | FA0480 |
Cardiovascular Anomalies |
|
Cardiovascular Anomalies \ Aortic arch - Double | FA1880 |
Cardiovascular Anomalies \ Aortic arch - Interrupted | FA0630 |
Cardiovascular Anomalies \ Aortic arch - Right | FA0710 |
Cardiovascular Anomalies \ Aortic atresia/Hypoplastic aortic arch | FA0500 |
Cardiovascular Anomalies \ Aortic valve stenosis | FA0510 |
Cardiovascular Anomalies \ Arrhythmia | FA1890 |
Cardiovascular Anomalies \ Atrial isomerism (heterotaxy) - Left | FA0640 |
Cardiovascular Anomalies \ Atrial isomerism (heterotaxy) - Right | FA0720 |
Cardiovascular Anomalies \ Atrial septal defect (ASD) | FA0520 |
Cardiovascular Anomalies \ Atrioventricular septal defect (AVSD) | FA0530 |
Cardiovascular Anomalies \ Cardiomegaly | FA1900 |
Cardiovascular Anomalies \ Coarctation of aorta | FA0550 |
Cardiovascular Anomalies \ Congenital heart block (complete and incomplete) | FA0560 |
Cardiovascular Anomalies \ Dextrocardia | FA0570 |
Cardiovascular Anomalies \ Discordant atrioventricular connection | FA1910 |
Cardiovascular Anomalies \ Double inlet ventricle (Single ventricle) | FA0580 |
Cardiovascular Anomalies \ Double outlet right ventricle (DORV) | FA0590 |
Cardiovascular Anomalies \ Ebstein anomaly | FA0600 |
Cardiovascular Anomalies \ Hypoplastic left heart (HLHS) | FA0610 |
Cardiovascular Anomalies \ Hypoplastic right heart (HRHS) | FA0620 |
Cardiovascular Anomalies \ Mitral valve atresia | FA0650 |
Cardiovascular Anomalies \ Mitral valve insufficiency | FA0660 |
Cardiovascular Anomalies \ Mitral valve stenosis | FA0670 |
Cardiovascular Anomalies \ Patent ductus arteriosus (PDA) - >37 weeks | FA1920 |
Cardiovascular Anomalies \ Patent/Persistent foramen ovale (PFO)/Premature closure of atrial septum | FA1930 |
Cardiovascular Anomalies \ Pericardial effusion | FA0680 |
Cardiovascular Anomalies \ Pulmonary valve atresia | FA0690 |
Cardiovascular Anomalies \ Pulmonary valve dysplasia | FA1940 |
Cardiovascular Anomalies \ Pulmonary valve stenosis | FA0700 |
Cardiovascular Anomalies \ Situs inversus (cardiac and abdominal) | FA0730 |
Cardiovascular Anomalies \ Tetralogy of Fallot (TOF) | FA0740 |
Cardiovascular Anomalies \ Total anomalous pulmonary venous connection (TAPVC)/Partial anomalous pulmonary venous connection (PAPVC) | FA0750 |
Cardiovascular Anomalies \ Transposition of great vessels (TGV) | FA0760 |
Cardiovascular Anomalies \ Tricuspid atresia/stenosis | FA0770 |
Cardiovascular Anomalies \ Tricuspid regurgitation | FA1960 |
Cardiovascular Anomalies \ Tricuspid valve dysplasia | FA1970 |
Cardiovascular Anomalies \ Truncus arteriosus (common arterial truncus) | FA0780 |
Cardiovascular Anomalies \ Vascular ring | FA0790 |
Cardiovascular Anomalies \ Vena cava, bilateral superior (SVC) | FA0540 |
Cardiovascular Anomalies \ Vena cava, interrupted inferior (IVC) | FA1980 |
Cardiovascular Anomalies \ Vena cava, persistent left superior (SVC) | FA1990 |
Cardiovascular Anomalies \ Ventricular disproportion (RV/LV discrepancy) | FA2000 |
Cardiovascular Anomalies \ Ventricular septal defect (VSD) | FA0800 |
Cardiovascular Anomalies \ Other cardiac malformations | FA0810 |
Abdominal Wall Defects |
|
Abdominal Wall Defects \ Gastroschisis | FA0830 |
Abdominal Wall Defects \ Omphalocele (exomphalos) | FA0840 |
Abdominal Wall Defects \ Other - congenital malformations of abdominal wall | FA0850 |
Gastrointestinal & Abdominal Anomalies |
|
Gastrointestinal & Abdominal Anomalies \ Abnormal stomach (including small/absent stomach) | FA2010 |
Gastrointestinal & Abdominal Anomalies \ Biliary atresia (atresia of bile ducts) | FA0960 |
Gastrointestinal & Abdominal Anomalies \ Bowel obstruction | FA0930 |
Gastrointestinal & Abdominal Anomalies \ Duodenal atresia/stenosis | FA0900 |
Gastrointestinal & Abdominal Anomalies \ Esophageal atresia (without fistula) | FA2030 |
Gastrointestinal & Abdominal Anomalies \ Esophageal atresia with tracheo-esophageal fistula (TEF) | FA2040 |
Gastrointestinal & Abdominal Anomalies \ Tracheoesophageal fistula (TEF) without esophageal atresia | FA0880 |
Gastrointestinal & Abdominal Anomalies \ Hirschsprung disease | FA2050 |
Gastrointestinal & Abdominal Anomalies \ Imperforate anus (congenital absence, atresia, stenosis of anus) | FA0950 |
Gastrointestinal & Abdominal Anomalies \ Large intestine atresia/stenosis | FA0920 |
Gastrointestinal & Abdominal Anomalies \ Pyloric stenosis | FA0890 |
Gastrointestinal & Abdominal Anomalies \ Rectal atresia/stenosis with/without fistula | FA2060 |
Gastrointestinal & Abdominal Anomalies \ Small bowel, abnormal | FA2070 |
Gastrointestinal & Abdominal Anomalies \ Small intestine atresia/stenosis (excluding duodenum) | FA0910 |
Gastrointestinal & Abdominal Anomalies \ Umbilical hernia | FA2090 |
Gastrointestinal & Abdominal Anomalies \ Other - malformations of gastrointestinal system | FA0970 |
Urinary Anomalies |
|
Urinary Anomalies \ Bladder/cloacal exstrophy | FA1080 |
Urinary Anomalies \ Congenital hydronephrosis | FA2100 |
Urinary Anomalies \ Cystic kidneys - other | FA0990 |
Urinary Anomalies \ Duplex kidney/collecting system | FA1030 |
Urinary Anomalies \ Echogenic kidney(s) | FA1040 |
Urinary Anomalies \ Ectopic/pelvic kidney | FA1050 |
Urinary Anomalies \ Lower urinary tract obstruction | FA1110 |
Urinary Anomalies \ Megacystis | FA1090 |
Urinary Anomalies \ Megaureter | FA1100 |
Urinary Anomalies \ Multicystic dysplastic kidney(s) | FA1020 |
Urinary Anomalies \ Polycystic kidney, autosomal dominant | FA1010 |
Urinary Anomalies \ Polycystic kidney, autosomal recessive | FA1000 |
Urinary Anomalies \ Posterior urethral valves (PUV) | FA1120 |
Urinary Anomalies \ Prune belly | FA1130 |
Urinary Anomalies \ Renal agenesis - bilateral | FA1070 |
Urinary Anomalies \ Renal agenesis - unilateral | FA1060 |
Urinary Anomalies \ Renal cyst | FA2120 |
Urinary Anomalies \ Renal Dysplasia | FA2130 |
Urinary Anomalies \ Ureterocoele | FA2140 |
Urinary Anomalies \ Other - malformations of the urinary system | FA1140 |
Genital Anomalies |
|
Genital Anomalies \ Ambiguous genitalia/Indeterminate sex | FA1160 |
Genital Anomalies \ Cryptorchidism/undescended testicle(s) >37 weeks | FA2150 |
Genital Anomalies \ Epispadias | FA2160 |
Genital Anomalies \ Hydrocoele | FA2170 |
Genital Anomalies \ Hypospadias | FA1170 |
Genital Anomalies \ Other - malformations of female genitalia | FA1180 |
Genital Anomalies \ Other - malformations of male genitalia | FA1190 |
Skeletal & Limb Anomalies |
|
Skeletal & Limb Anomalies \ Adactyly (absent fingers/toes) | FA1340 |
Skeletal & Limb Anomalies \ Bowed/curved long bone(s) | FA2180 |
Skeletal & Limb Anomalies \ Club foot (talipes equinovarus) - bilateral | FA1290 |
Skeletal & Limb Anomalies \ Club foot (talipes equinovarus) - unilateral | FA1300 |
Skeletal & Limb Anomalies \ Congenital hip dislocation/dysplasia | FA2190 |
Skeletal & Limb Anomalies \ Craniosynostosis | FA1270 |
Skeletal & Limb Anomalies \ Ectrodactyly (lobster-claw/cleft hand) | FA1350 |
Skeletal & Limb Anomalies \ Hypotonia, unspecified | FA2200 |
Skeletal & Limb Anomalies \ Limb reduction defect - lower limb | FA1320 |
Skeletal & Limb Anomalies \ Limb reduction defect - upper limb | FA1310 |
Skeletal & Limb Anomalies \ Limb reduction defects of unspecified limb | FA1330 |
Skeletal & Limb Anomalies \ Osteogenesis imperfecta | FA1240 |
Skeletal & Limb Anomalies \ Polydactyly - feet | FA1370 |
Skeletal & Limb Anomalies \ Polydactyly - hands | FA1360 |
Skeletal & Limb Anomalies \ Skeletal dysplasia | FA1260 |
Skeletal & Limb Anomalies \ Syndactyly - feet | FA1390 |
Skeletal & Limb Anomalies \ Syndactyly - hands | FA1380 |
Skeletal & Limb Anomalies \ Congenital malformations of the musculoskeletal system | FA2210 |
Skeletal & Limb Anomalies \ Other - malformations of the spine & bony thorax (not including spina bifida) | FA2220 |
Skeletal & Limb Anomalies \ Other - malformations of the limb(s) | FA1400 |
Other Anomalies/Patterns/Syndromes |
|
Other Anomalies/Patterns/Syndromes \ Congenital constriction bands/amniotic bands | FA1420 |
Other Anomalies/Patterns/Syndromes \ Intrauterine Growth Restriction (IUGR) <10th percentile | FA1430 |
Other Anomalies/Patterns/Syndromes \ Noonan syndrome/Rasopathies | FA1440 |
Other Anomalies/Patterns/Syndromes \ Oligohydramnios | FA1450 |
Other Anomalies/Patterns/Syndromes \ Pierre Robin Sequence | FA2250 |
Other Anomalies/Patterns/Syndromes \ Polyhydramnios | FA1460 |
Other Anomalies/Patterns/Syndromes \ Potter's syndrome/sequence | FA1470 |
Other Anomalies/Patterns/Syndromes \ Other - genetic syndrome | FA2260 |
Lymphatic Anomalies & Hydrops |
|
Lymphatic Anomalies & Hydrops \ Cystic hygroma | FA1510 |
Lymphatic Anomalies & Hydrops \ Fetal ascites | FA1520 |
Lymphatic Anomalies & Hydrops \ Hydrops fetalis | FA1530 |
Lymphatic Anomalies & Hydrops \ Increased nuchal translucency (>= 3.5 mm) | FA1500 |
Lymphatic Anomalies & Hydrops \ Pleural effusion(s) (hydrothorax) | FA1540 |
Chromosomal Anomalies |
|
Chromosomal Anomalies \ 22Q11.2 deletion syndrome/DiGeorge syndrome | FA1640 |
Chromosomal Anomalies \ 47, XYY | FA1610 |
Chromosomal Anomalies \ Down syndrome/Trisomy 21 | FA1560 |
Chromosomal Anomalies \ Edwards syndrome/Trisomy 18 | FA1580 |
Chromosomal Anomalies \ Klinefelter syndrome (47, XXY) | FA1600 |
Chromosomal Anomalies \ Patau syndrome/Trisomy 13 | FA1570 |
Chromosomal Anomalies \ Triple X syndrome (47, XXX) | FA1620 |
Chromosomal Anomalies \ Triploidy/polyploidy | FA1630 |
Chromosomal Anomalies \ Turner syndrome (45, X) | FA1590 |
Chromosomal Anomalies \ Chromosome abnormality - other | FA2270 |
Skin/Hair/Nails |
|
Skin/Hair/Nails \ Congenital Ichthyosis | FA2290 |
Skin/Hair/Nails \ Cutis Aplasia | FA2300 |
Skin/Hair/Nails \ Epidermolysis Bullosa | FA2310 |
Skin/Hair/Nails \ Other - congenital malformations of skin | FA2320 |
Skin/Hair/Nails \ Other - congenital malformations of hair | FA2330 |
Skin/Hair/Nails \ Other - congenital malformations of nails | FA2340 |
Twins |
|
Twins \ Acardiac Twin (TRAP Sequence) | FA2350 |
Twins \ Conjoined twins | FA2360 |
Twins \ Selective Intrauterine Growth Restriction (sIUGR) | FA2370 |
Twins \ Twin anemia polycythemia (TAPS) | FA2380 |
Twins \ Twin-twin transfusion syndrome (TTTS) | FA1700 |
Twins \ Other - malformation(s) of twins | FA2390 |
Other/Unknown |
|
Other/Unknown \ Unknown | UN |
Other/Unknown \ Other Congenital Malformations, Not Elsewhere Classified | FA1720 |