None | NONE |
Abdominal Wall | ABDOM |
Abdominal Wall|Bladder exstrophy | A0015 |
Abdominal Wall|Body stalk anomaly (limb body wall complex) | A0020 |
Abdominal Wall|Cloacal extrophy | A0030 |
Abdominal Wall|Gastroschisis | A0040 |
Abdominal Wall|Limb body wall complex (body stalk anomaly) | A0050 |
Abdominal Wall|Omphalocele (exomphalos) | A0060 |
| A0090 |
Abdominal Wall|Pentalogy of Cantrell | A0070 |
Abdominal Wall|Umbilical hernia | A0080 |
Cardiovascular | CARDIO |
Cardiovascular|Aorta - pulmonary window | A0110 |
Cardiovascular|Aortic arch - double | A0120 |
Cardiovascular|Aortic arch - interrupted | A0130 |
Cardiovascular|Aortic atresia | A0140 |
Cardiovascular|Aortic valve insufficiency | A0150 |
Cardiovascular|Aortic valve stenosis | A0160 |
Cardiovascular|Arrhythmia | A0170 |
Cardiovascular|Atrial fibrillation | A0180 |
Cardiovascular|Atrial flutter | A0190 |
Cardiovascular|Atrial septal defect (ASD) | A0200 |
Cardiovascular|Atrioventricular septal defect (AVSD) (endocardial cushion defect) | A0210 |
Cardiovascular|Bilateral SVC (superior vena cava) | A0220 |
Cardiovascular|Bradycardia (bradyarrhythmia) | A0230 |
Cardiovascular|Cardiac dysfunction | A0240 |
Cardiovascular|Cardiac tumour / mass | A0250 |
Cardiovascular|Cardiomegaly | A0260 |
Cardiovascular|Cardiomyopathy - dilated | A0270 |
Cardiovascular|Cardiomyopathy - fetus of diabetic mother | A0280 |
Cardiovascular|Cardiomyopathy - hypertrophic (HOCM) | A0290 |
Cardiovascular|Coarctation of aorta | A0300 |
Cardiovascular|Common atrium | A0310 |
Cardiovascular|Complete Heart Block | A0320 |
Cardiovascular|Congenital heart block (CHB) | A0330 |
Cardiovascular|Congenital heart disease | A0340 |
Cardiovascular|Coronary artery fistula | A0350 |
Cardiovascular|Dextrocardia | A0360 |
Cardiovascular|Dilated ascending aorta | A0370 |
Cardiovascular|Diverticulum - LV | A0380 |
Cardiovascular|Diverticulum - RV | A0390 |
Cardiovascular|Double inlet left ventricle (DILV) | A0400 |
Cardiovascular|Double inlet right ventricle (DIRV) | A0410 |
Cardiovascular|Double outlet left ventricle (DOLV) | A0420 |
Cardiovascular|Double outlet right ventricle (DORV) | A0430 |
Cardiovascular|Ductus arteriosus - Patent (PDA) | A6001 |
Cardiovascular|Ductus arteriosus - premature closure | A0440 |
Cardiovascular|Ductus arteriosus aneurysm | A0450 |
Cardiovascular|Ductus venosus - agenesis | A0460 |
Cardiovascular|Ebstein anomaly | A0470 |
Cardiovascular|Ectopia cordis | A0490 |
Cardiovascular|EFE (endocardial fibroelastosis) | A0500 |
Cardiovascular|Endocardial fibroelastosis (EFE) | A0510 |
Cardiovascular|Fibroma - cardiac | A0520 |
Cardiovascular|HLHS (hypoplastic left heart syndrome) | A0530 |
Cardiovascular|Hypoplastic aortic arch | A0540 |
Cardiovascular|Hypoplastic left heart syndrome (HLHS) | A0550 |
Cardiovascular|Hypoplastic right heart syndrome (HRHS) | A0560 |
Cardiovascular|Interrupted IVC (superior vena cava) | A0570 |
Cardiovascular|Left atrial isomerism (heterotaxy) | A0580 |
Cardiovascular|Mitral atresia | A6002 |
Cardiovascular|Mitral regurGastrointestinalation | A0590 |
Cardiovascular|Mitral stenosis | A0600 |
Cardiovascular|Mitral valve dysplasia | A0610 |
| A0990 |
Cardiovascular|Other heart abnormalities | A1000 |
Cardiovascular|Partial anomalous pulmonary venous drainage (PAPVD) | A0620 |
Cardiovascular|Pericardial cyst | A0630 |
Cardiovascular|Pericardial effusion | A0640 |
Cardiovascular|Persistent left SVC (superior vena cava) | A0650 |
Cardiovascular|Premature atrial contractions (PAC's) | A0660 |
Cardiovascular|Premature closure of atrial septum (PFO) | A0670 |
Cardiovascular|Premature ventricular contractions (PVC's) | A0680 |
Cardiovascular|Pulmonary (valve) atresia | A0690 |
Cardiovascular|Pulmonary (valve) stenosis (PS) | A0700 |
Cardiovascular|Pulmonary insufficiency | A0710 |
Cardiovascular|Pulmonary valve dysplasia | A0720 |
Cardiovascular|Rhabdomyoma(s) - cardiac | A0730 |
Cardiovascular|Right arch | A0740 |
Cardiovascular|Right atrial isomerism (heterotaxy) | A0750 |
Cardiovascular|Scimitar syndrome | A0760 |
Cardiovascular|Shone's syndrome | A0770 |
Cardiovascular|Single outlet ventricle | A0780 |
Cardiovascular|Single ventricle (univentricular heart) | A0790 |
Cardiovascular|Single ventricle / univentricular connection | A0800 |
Cardiovascular|Situs inversus - cardiac | A0810 |
Cardiovascular|Subaortic stenosis | A0820 |
Cardiovascular|Supra ventricular tachycardia (SVT) | A0830 |
Cardiovascular|Tachycardia (tachyarrhythmia) | A0840 |
Cardiovascular|TAPVD (total anomalous pulmonary venous drainage) | A0850 |
Cardiovascular|Tetralogy of Fallot (TOF) | A0860 |
Cardiovascular|Total anomalous pulmonary venous drainage (TAPVD) | A0870 |
Cardiovascular|Transposition of great arteries - complete (CTGA) | A0880 |
Cardiovascular|Transposition of great arteries - congenitally corrected (CCTGA) | A0890 |
Cardiovascular|Transposition of great vessels (TGA) | A0900 |
Cardiovascular|Tricuspid atresia | A0910 |
Cardiovascular|Tricuspid regurGastrointestinalation | A0920 |
Cardiovascular|Tricuspid stenosis | A0930 |
Cardiovascular|Tricuspid valve dysplasia | A0940 |
Cardiovascular|Truncus arteriosis | A0950 |
Cardiovascular|Valvular Anomalies | A0961 |
Cardiovascular|Vascular ring | A0960 |
Cardiovascular|Ventricular disproportion (RV>LV) | A6003 |
Cardiovascular|Ventricular septal defect (VSD) | A0970 |
Cardiovascular|Ventricular tachycardia | A0980 |
Chromosomes | CHROM |
Chromosomes|45,X (Turner syndrome) | A1020 |
Chromosomes|47,XXX | A1030 |
Chromosomes|47,XXY (Klinefelter syndrome) | A1040 |
Chromosomes|47,XYY | A1050 |
Chromosomes|Array CGH abnormal or other | A1060 |
Chromosomes|Balanced translocation | A1070 |
Chromosomes|Deletion - other | A1080 |
Chromosomes|Di George Syndrome (22 q11 deletion) | A1090 |
Chromosomes|Microdeletion syndrome - other | A1100 |
Chromosomes|Mosaicism | A1110 |
Chromosomes|Normal female; 46,XX | A1120 |
Chromosomes|Normal male; 46,XY | A1130 |
Chromosomes|Other | A1240 |
Chromosomes|Paracentric inversion | A1140 |
Chromosomes|Pericentric inversion | A1150 |
Chromosomes|Triploidy /polploidy | A1160 |
Chromosomes|Trisomy - other | A1170 |
Chromosomes|Trisomy 13 | A1180 |
Chromosomes|Trisomy 18 | A1190 |
Chromosomes|Trisomy 21 (Down syndrome) | A1200 |
Chromosomes|Trisomy 21 (Down syndrome) - mosaic | A1210 |
Chromosomes|Trisomy 21 (Down syndrome) - translocation | A1220 |
Chromosomes|Unbalanced translocation | A1230 |
Congenital Infections | CONGINF |
Congenital Infections|CMV (cytomegalovirus) infection - congenital | A1260 |
Congenital Infections|Enterovirus infections | A1270 |
Congenital Infections|Herpes simplex virus (HSV) infection - congenital | A1280 |
Congenital Infections|HIV | A1290 |
Congenital Infections|Other - infections | A1340 |
Congenital Infections|Rubella syndrome - congenital | A1300 |
Congenital Infections|Toxoplasmosis | A1310 |
Congenital Infections|Tuberculosis (TB) - congenital | A1320 |
Congenital Infections|Varicella-zoster virus | A1330 |
Extremities-skeletal | EXTSKE |
Extremities-skeletal|Abnormalities | A1351 |
Extremities-skeletal|Arms/legs | A1360 |
Extremities-skeletal|Arms/legs-Bowed femur | A1370 |
Extremities-skeletal|Arms/legs-Bowed humerus | A1380 |
Extremities-skeletal|Arms/legs-Bowed radius &/or ulna | A1390 |
Extremities-skeletal|Arms/legs-Bowed tibia &/or fibula | A1400 |
Extremities-skeletal|Arms/legs-Fracture(s) - long bones | A1410 |
Extremities-skeletal|Generalized/other | A1420 |
| A1430 |
Extremities-skeletal|Generalized/other-Arthrogryposis multiplex congenita | A1440 |
| A1450 |
| A1460 |
Extremities-skeletal|Generalized/other-Fracture(s) - ribs | A1470 |
Extremities-skeletal|Generalized/other-Hip Dislocation; congenital | A1480 |
Extremities-skeletal|Generalized/other-Hypomineralization | A1490 |
Extremities-skeletal|Generalized/other-Limb reduction defect(s) (LRD) - lower limb | A1500 |
Extremities-skeletal|Generalized/other-Limb reduction defect(s) (LRD) - upper limb | A1510 |
| A1520 |
Extremities-skeletal|Generalized/other-Phocomelia | A1530 |
Extremities-skeletal|Generalized/other-Sirenomelia | A1540 |
Extremities-skeletal|Generalized/other-Skeletal dysplasia -other | A1550 |
Extremities-skeletal|Hands/feet | A1560 |
Extremities-skeletal|Hands/feet-Adactyly (absent fingers/ toes) | A1570 |
Extremities-skeletal|Hands/feet-Brachydactyly (short fingers/toes) | A1580 |
Extremities-skeletal|Hands/feet-Clenched hands (persistently) | A1590 |
Extremities-skeletal|Hands/feet-Clinodactyly (fifth finger) | A1600 |
| A1610 |
Extremities-skeletal|Hands/feet-Ectrodactyly (lobster-claw / cleft hand) | A1620 |
Extremities-skeletal|Hands/feet-Fused toes | A1630 |
Extremities-skeletal|Hands/feet-Overlapping fingers | A1640 |
Extremities-skeletal|Hands/feet-Polydactyly (feet) | A1650 |
Extremities-skeletal|Hands/feet-Polydactyly (hands) | A1660 |
Extremities-skeletal|Hands/feet-Radial ray anomaly (absent thumb) | A1670 |
Extremities-skeletal|Hands/feet-Rocker-bottom feet | A1680 |
Extremities-skeletal|Hands/feet-Sandal gap toes | A1690 |
Extremities-skeletal|Hands/feet-Syndactyly (feet) | A1700 |
Extremities-skeletal|Hands/feet-Syndactyly (hands) | A1710 |
Extremities-skeletal|Hands/feet-Webbed fingers | A1720 |
Extremities-skeletal|Hands/feet-Webbed toes | A1730 |
Extremities-skeletal|Micromelia | A6004 |
Extremities-skeletal|Muscle/connective tissue disorders | A1740 |
Extremities-skeletal|Muscle/connective tissue disorders-Duchenne muscular dystrophy (DMD) | A1750 |
Extremities-skeletal|Muscle/connective tissue disorders-Ehlers-Danlos syndrome | A1760 |
Extremities-skeletal|Muscle/connective tissue disorders-Hypotonia | A1770 |
| A1790 |
Extremities-skeletal|Muscle/connective tissue disorders-Spinal muscular atrophy (SMA) | A1780 |
Extremities-skeletal|Skeletal Dysplasias | A1800 |
Extremities-skeletal|Skeletal Dysplasias-Achondrogenesis | A1810 |
Extremities-skeletal|Skeletal Dysplasias-Achondroplasia | A1820 |
Extremities-skeletal|Skeletal Dysplasias-Campomelic dysplasia | A1830 |
Extremities-skeletal|Skeletal Dysplasias-Chondrodysplasia punctata | A1840 |
Extremities-skeletal|Skeletal Dysplasias-Diastrophic dysplasia | A1850 |
Extremities-skeletal|Skeletal Dysplasias-Ellis-van Creveld syndrome | A1860 |
Extremities-skeletal|Skeletal Dysplasias-Osteogenesis imperfecta | A1870 |
Extremities-skeletal|Skeletal Dysplasias-Short rib polydactyly syndrome - type VII | A1880 |
Extremities-skeletal|Skeletal Dysplasias-Thanatophoric dysplasia | A1890 |
Extremities-skeletal|Syndactyly | A6005 |
Face | FACE |
Face|Abnormalities | A2031 |
Face|EARS | A1910 |
Face|EARS-Ears - absent (anotia) | A1920 |
Face|EARS-Ears - low set | A1930 |
Face|EARS-Ears - small (microtia) | A1940 |
Face|EYES | A1950 |
Face|EYES-Anophthalmia | A1960 |
Face|EYES-Congenital cataract | A1970 |
Face|EYES-Cyclops | A1980 |
Face|EYES-Hypertelorism | A1990 |
Face|EYES-Hypotelorism | A2000 |
Face|EYES-Macrophthalmia | A2010 |
Face|EYES-Microphthalmia | A2020 |
Face|EYES-Retinoblastoma | A2030 |
Face|MOUTH | A2040 |
Face|MOUTH-Cleft lip | A2050 |
Face|MOUTH-Cleft lip & palate | A2060 |
Face|MOUTH-Cleft palate | A2070 |
Face|MOUTH-Flat face | A2080 |
Face|MOUTH-Macroglossia | A2090 |
Face|MOUTH-Micrognathia | A2100 |
Face|MOUTH-Retrognathia | A2110 |
Face|NOSE | A2120 |
Face|NOSE-Absent nose | A2140 |
Face|NOSE-Choanal atresia | A2160 |
Face|NOSE-Hypoplastic nose | A2180 |
Face|NOSE-Proboscis | A2190 |
Face|NOSE-Single nostril | A2200 |
| A2230 |
Face|Tumour of face | A2210 |
Face|Tumour of face Other | A2220 |
Gastrointestinal | GASTRO |
Gastrointestinal|Bowel obstruction small or large intestine | A2665 |
Gastrointestinal|Stenois small or large intestine | A2915 |
Gastrointestinal|Abnormal Esophagus | A2591 |
Gastrointestinal|Abnormal Gallbladder | A2592 |
Gastrointestinal|Abnormal Large Bowel | A2593 |
Gastrointestinal|Abnormal Liver | A2594 |
Gastrointestinal|Abnormal Small Bowel | A2595 |
Gastrointestinal|Abnormal Stomach | A2596 |
Gastrointestinal|Absent gallbladder | A2600 |
Gastrointestinal|Absent stomach | A2610 |
Gastrointestinal|Adrenal cyst(s) | A2620 |
Gastrointestinal|Ascites | A2630 |
Gastrointestinal|Asplenia | A2640 |
Gastrointestinal|Atresia and stenosis intestine | A2650 |
Gastrointestinal|Biliary atresia | A2660 |
Gastrointestinal|Choledochal cyst(s) | A2670 |
Gastrointestinal|Dilated gallbladder | A2680 |
Gastrointestinal|Dilated stomach | A2690 |
Gastrointestinal|Duodenal atresia | A2700 |
Gastrointestinal|Hepatomegaly | A2710 |
Gastrointestinal|Hirschsprung's disease | A2720 |
Gastrointestinal|Hyperperistalsis | A2730 |
Gastrointestinal|Imperforate anus | A2740 |
Gastrointestinal|Intra-abdominal cyst(s) | A2750 |
Gastrointestinal|Large bowel obstruction | A2760 |
Gastrointestinal|Liver cyst(s) | A2770 |
Gastrointestinal|Liver nodule | A2780 |
Gastrointestinal|Meconium ileus | A2790 |
Gastrointestinal|Meconium peritonitis | A2800 |
Gastrointestinal|Mesenteric cyst | A2810 |
Gastrointestinal|Oesophageal atresia | A2820 |
Gastrointestinal|Oesophageal diverticulum | A2830 |
| A2930 |
Gastrointestinal|Ovarian cyst(s) | A2840 |
Gastrointestinal|Pancreatic cyst(s) | A2850 |
Gastrointestinal|Perinatal intestinal perforation | A2860 |
Gastrointestinal|Polysplenia | A2870 |
Gastrointestinal|Pyloric stenosis | A2880 |
Gastrointestinal|Situs inversus - abdominal | A2890 |
Gastrointestinal|Small bowel obstruction | A2900 |
Gastrointestinal|Small stomach | A6009 |
Gastrointestinal|Splenomegaly | A2910 |
Gastrointestinal|Tracheo-oesophageal fistula (TEF) | A2920 |
Genitourinary Tract | GENTRCT |
Genitourinary Tract|Absent bladder | A6006 |
Genitourinary Tract|Ambiguous genitalia / indeterminate sex | A2250 |
Genitourinary Tract|Autosomal dominant polycystic kidney disease (ADPKD) | A2260 |
Genitourinary Tract|Autosomal recessive polycystic kidney disease (ARPKD) | A2270 |
Genitourinary Tract|Bladder abnormalities | A2271 |
Genitourinary Tract|Bladder diverticulum | A2280 |
Genitourinary Tract|Bladder extrophy | A2290 |
Genitourinary Tract|Cloacal dysgenesis | A2300 |
Genitourinary Tract|Cloacal extrophy | A2310 |
Genitourinary Tract|Cystic kidney(s) - other | A2320 |
Genitourinary Tract|Duplex kidney/collecting system | A2330 |
Genitourinary Tract|Echogenic kidney(s) | A2340 |
Genitourinary Tract|Ectopic/pelvic kidney | A2350 |
Genitourinary Tract|Hydrocoele | A2360 |
Genitourinary Tract|Hydronephrosis (>10 mm) | A2370 |
Genitourinary Tract|Hyperplastic & giant kidney(s) | A2380 |
Genitourinary Tract|Hypoplastic kidney(s) | A2390 |
Genitourinary Tract|Hypospadias | A2400 |
Genitourinary Tract|Keyhole bladder/urethra | A6007 |
Genitourinary Tract|Keyhole sign | A6008 |
Genitourinary Tract|Lower urinary tract obstruction (LUTO) | A2410 |
Genitourinary Tract|Megacystis | A2420 |
Genitourinary Tract|Megaureter | A2430 |
Genitourinary Tract|Multicystic kidney disease (MCKD) | A2440 |
| A2560 |
| A2570 |
| A2580 |
Genitourinary Tract|Posterior urethral valves (PUV) | A2450 |
Genitourinary Tract|Prune belly | A2460 |
Genitourinary Tract|Pseudohermaphroditism | A2470 |
Genitourinary Tract|Renal Abnormalities | A2481 |
Genitourinary Tract|Renal agenesis | A2490 |
Genitourinary Tract|Renal cyst | A2500 |
Genitourinary Tract|Renal dysplasia | A2510 |
Genitourinary Tract|Undescended testicle(s) | A2520 |
Genitourinary Tract|Ureter Abnormalities | A2521 |
Genitourinary Tract|Ureterocoele | A2530 |
Genitourinary Tract|Urethral atresia | A2540 |
| A2550 |
Head-Cranium & Brain | HEADCB |
Head-Cranium & Brain|Absent cerebellar vermis | A2950 |
Head-Cranium & Brain|Absent cerebellum | A2960 |
Head-Cranium & Brain|Acrania | A2970 |
Head-Cranium & Brain|Agenesis of corpus callosum (ACC) | A2980 |
Head-Cranium & Brain|Anencephaly | A2990 |
Head-Cranium & Brain|Aqueductal stenosis | A3000 |
Head-Cranium & Brain|Arachnoid cyst(s) | A3010 |
Head-Cranium & Brain|Arhinencephaly | A3020 |
| A3030 |
Head-Cranium & Brain|Atresia of foramina of Magendie & Luschka | A3040 |
Head-Cranium & Brain|Banana cerebellum | A3050 |
Head-Cranium & Brain|Brachycephaly | A3060 |
Head-Cranium & Brain|Brain tumor | A3070 |
Head-Cranium & Brain|Calcification - intracranial | A3080 |
Head-Cranium & Brain|Cavum Septi Pellucidum (CSP) absent | A6010 |
Head-Cranium & Brain|Cerebellar & posterior fossa haemorrhage | A3090 |
| A3100 |
Head-Cranium & Brain|Cloverleaf shaped head | A3120 |
Head-Cranium & Brain|Congenital cerebral cysts | A3130 |
Head-Cranium & Brain|Craniorachischisis | A3140 |
Head-Cranium & Brain|Craniosynostosis | A3150 |
| A3160 |
Head-Cranium & Brain|Dolichocephaly | A3170 |
Head-Cranium & Brain|Encephalocele | A3180 |
Head-Cranium & Brain|Enlarged cisterna magna | A3190 |
Head-Cranium & Brain|Excencephaly | A3200 |
Head-Cranium & Brain|Exencephaly | A3210 |
Head-Cranium & Brain|Holoprosencephaly | A3220 |
Head-Cranium & Brain|Hydranencephaly | A3230 |
Head-Cranium & Brain|Hydrocephalus | A3240 |
Head-Cranium & Brain|Iniencephaly | A3250 |
Head-Cranium & Brain|Intracerebral haemorrhage | A3260 |
Head-Cranium & Brain|Intraventricular haemorrhage (IVH) | A3270 |
Head-Cranium & Brain|Lissenchephaly | A3280 |
Head-Cranium & Brain|Macrocephaly | A3290 |
Head-Cranium & Brain|Megalencephaly | A3300 |
Head-Cranium & Brain|Microcephaly | A3310 |
| A3440 |
Head-Cranium & Brain|Plagiocephaly | A3320 |
Head-Cranium & Brain|Porencephalic cyst(s) | A3330 |
Head-Cranium & Brain|Posterior fossa cyst | A3340 |
Head-Cranium & Brain|Prominent forehead | A3350 |
Head-Cranium & Brain|Prominent occiput | A3360 |
Head-Cranium & Brain|Seizures | A3370 |
Head-Cranium & Brain|Septo-optic dysplasia | A3380 |
Head-Cranium & Brain|Small cerebellum | A3390 |
Head-Cranium & Brain|Subarachnoid haemorrhage | A3400 |
Head-Cranium & Brain|Vein of Galen aneurysm | A3410 |
Head-Cranium & Brain|Ventriculomegaly - mild (10-15 mm) | A3420 |
Head-Cranium & Brain|Ventriculomegaly - severe (>15 mm) | A3430 |
Neck | NECK |
Neck|Cervical teratoma | A3460 |
Neck|Cystic hygroma | A3470 |
Neck|Neck tumour - other | A3490 |
| A3500 |
Spine - Back | SPINE |
Spine - Back|Ankylosing spondylitis | A3520 |
Spine - Back|Caudal regression syndrome | A3530 |
Spine - Back|NTD (neural tube defect) with hydrocephalus | A3540 |
Spine - Back|NTD (neural tube defect) without hydrocephalus | A3550 |
| A3580 |
Spine - Back|Sacral agenesis | A3560 |
Spine - Back|Sacrococcygeal teratoma (SCT) | A3570 |
Structural-other | STRCTO |
Structural-other|Hydrops Fetalis | A3615 |
Structural-other|Amniotic Bands | A3600 |
Structural-other|Failure to thrive | A3610 |
Structural-other|Normal - no anomaly detected | A3620 |
| A3630 |
Syndromes | SYNDR |
Syndromes|Aarskogs Syndrome | A3650 |
Syndromes|Achondrogenesis | A3660 |
Syndromes|Achondroplasia | A3670 |
Syndromes|Acroesomelic Dysplasia | A3680 |
Syndromes|Acrofacial Dysostosis | A3690 |
Syndromes|Adrenal Hyperplasia | A3700 |
Syndromes|Alpha-1-Antitrypsin | A3710 |
Syndromes|Alports Syndrome | A3720 |
Syndromes|Amyloplasia Congenita | A3730 |
Syndromes|Angelmans Syndrome | A3740 |
Syndromes|Anophthalmia | A3750 |
Syndromes|Aqueductal stenosis - X linked (L1 syndrome) | A3760 |
Syndromes|Arthrogryposis Multiplex Congenitia | A3770 |
Syndromes|Ataxia-telangiectasis | A3780 |
Syndromes|Autosomal dominant polycystic kidney disease | A3790 |
Syndromes|Autosomal Recessive Polycystic Kidney Disease | A3800 |
Syndromes|Beckwith-Wiedemann | A3810 |
Syndromes|Biotinidase deficiency (BIOT) | A3820 |
Syndromes|CADASIL | A3830 |
Syndromes|CAH (Congenital Adrenal Hyperplasia) | A3840 |
Syndromes|Camptomelic dysplaia | A3850 |
Syndromes|Carnitine uptake defect (CUD) | A3860 |
Syndromes|Caudal regression syndrome | A3870 |
Syndromes|Cerebral Palsy | A3880 |
Syndromes|Charcot-Marie-Tooth | A3890 |
Syndromes|CHARGE association | A3900 |
Syndromes|Chronrodysplasia Punctata | A3910 |
Syndromes|Cleidocranial Dysplasia | A3920 |
Syndromes|Coffin-Lowry syndrome | A3930 |
Syndromes|Congenital hypothyroidism (HYPOTH) | A3940 |
Syndromes|Congenital Myotonic Dystrophy | A3950 |
Syndromes|Congenital Nephrotic Syndrome | A3960 |
Syndromes|Cornelia Delange | A3970 |
Syndromes|CPS (Carbamyl Phosphate Deficiency) | A3980 |
Syndromes|Craniosynotsis Saethre-Crouzon | A3990 |
Syndromes|Cri-du-Chat Syndrome | A4000 |
Syndromes|Crouzon's syndrome | A4010 |
Syndromes|Cryptophthalmus | A4020 |
Syndromes|Cystic Fibrosis | A4030 |
Syndromes|Dandy-walker syndrome | A4040 |
Syndromes|Dextrocardia | A4050 |
Syndromes|Diastrophic dysplasia | A4060 |
Syndromes|Digeorge Syndrome | A4070 |
Syndromes|Dysautonomia - familial | A4080 |
Syndromes|Ectodermal Dysplasia | A4090 |
Syndromes|Ehlers-Danlos syndrome | A4100 |
Syndromes|Ellis Van Creveld Syndrome | A4110 |
Syndromes|Epidermolysis Bullosa | A4120 |
Syndromes|Fabry's Disease | A4140 |
Syndromes|Factor V | A4150 |
Syndromes|Fanconi Anemia | A4160 |
Syndromes|F-HYPDRR Familial hypophosphatemia | A4130 |
Syndromes|Fragile X Syndrome | A4170 |
Syndromes|Fraser Syndrome - cryptophthalmos syndrome | A4180 |
Syndromes|Freeman-Sheldon Syndrome | A4190 |
Syndromes|Friederichs Ataxia | A4200 |
Syndromes|Frontonasal dysplasia | A4210 |
Syndromes|FSHD (Fascioscapulohumeral Muscular Dystrophy) | A4220 |
Syndromes|Galactosemia (GALT) | A4230 |
Syndromes|Gaucher | A4240 |
Syndromes|Gilbert's disease | A4250 |
Syndromes|Glucose-6-phosphate dehydrogenase (G6PD) | A4260 |
Syndromes|Glutaric acidemia type I (GA I) | A4270 |
Syndromes|Goldenhar Syndrome | A4280 |
Syndromes|Gorlin Syndrome | A4290 |
Syndromes|GSD (Glycogen Storage Disease) | A4300 |
Syndromes|Hard +/- e syndrome | A4310 |
Syndromes|Harlequin Icthyosis | A4320 |
Syndromes|Hemi-hypertrophy | A4330 |
Syndromes|Hemophilia A/ B | A4340 |
Syndromes|Hereditary nephritis | A4350 |
Syndromes|HHT (Hereditary Hemorrhagic Telangiectasia) | A4360 |
Syndromes|HME (Hereditary Multiple Exostoses) | A4370 |
Syndromes|Holt-Oram | A4380 |
Syndromes|Homocystinosis | A4390 |
Syndromes|Homocystinuria (HCY) | A4400 |
| A4410 |
| A4420 |
Syndromes|Hydrochephalus X-Linked | A4430 |
Syndromes|Hydrolethalus | A4440 |
Syndromes|Hypochondroplasia | A4450 |
Syndromes|Hypoglycemia | A4460 |
Syndromes|Hypophosphatasia | A4470 |
Syndromes|Ichthyosis (non X-linked) | A4482 |
Syndromes|Ichthyosis X-linked (STS deficiency) | A4484 |
Syndromes|Idiopathic hypoparathyroidism | A4487 |
Syndromes|Incontinentia Pigmenti | A4500 |
Syndromes|Isovaleric academia (IVA) | A4510 |
Syndromes|Ivemark Syndrome | A4520 |
Syndromes|Jourbert Syndrome | A4530 |
Syndromes|Klippel-Trenaunay Syndrome | A4540 |
Syndromes|Krabbe | A4550 |
Syndromes|Larsen Syndrome | A4560 |
Syndromes|LCHAD | A4570 |
Syndromes|Leigh's Syndrome | A4580 |
Syndromes|Lesch Nyhan | A4590 |
Syndromes|Limb girdle dystrophy | A4600 |
Syndromes|Limb-Girdle Muscular Dystrophy | A4610 |
Syndromes|Long Q-T Syndrome | A4620 |
Syndromes|Lysosmal Storage Disease (IEM) | A4630 |
Syndromes|Machado-Joseph Disease | A4640 |
Syndromes|Maple syrup urine disease (MSUD) | A4650 |
Syndromes|Marfan syndrome | A4660 |
Syndromes|McKusic-Koffman Syndrome | A4670 |
Syndromes|Meckel-Gruber syndrome | A4680 |
Syndromes|Medium chain acyl-CoA dehydrogenase deficiency (MCAD) | A4690 |
Syndromes|MELAS | A4700 |
Syndromes|Menkes | A4710 |
Syndromes|MERFF | A4720 |
| A4730 |
Syndromes|Methylenetetrahydrofolate Reductase Deficiency | A4740 |
Syndromes|Methylmalonic Acidemia | A4750 |
Syndromes|Methylmalonic acidemia (Cbl A;B) | A4760 |
Syndromes|Methylmalonic acidemia (mutase deficiency) (MUT) | A4770 |
Syndromes|Miller-Dieker Syndrome | A4780 |
Syndromes|Morquio Syndrome | A4790 |
Syndromes|MPS (Mucopolysaccharidosis) | A4800 |
Syndromes|Multiple carboxylase deficiency (MCD) | A4810 |
Syndromes|Multiple Congenital Anomalies (Unknown Origin) | A4820 |
Syndromes|Multiple pterygium syndrome | A4830 |
Syndromes|Myotonic Dystrophy | A4840 |
Syndromes|Nail-Patella Syndrome | A4850 |
Syndromes|Neurofibromatosis 1 | A4860 |
Syndromes|Neurofibromatosis 2 | A4870 |
Syndromes|Nieman-Pick | A4880 |
Syndromes|Noonan Syndrome | A4890 |
Syndromes|OculodentiodiGastrointestinalal Syndrome | A4900 |
Syndromes|Opitz Syndrome | A4910 |
Syndromes|Oromandibular Limb Hypogenesis | A4920 |
Syndromes|Osteogenesis Imperfecta | A4930 |
Syndromes|OTC Deficiency | A4940 |
Syndromes|Otosclerosis | A4950 |
Syndromes|Pallister-Hall Syndrome | A4960 |
Syndromes|Pelizaeus-merzbacher-like disease | A4970 |
Syndromes|Peters' anomaly (brachymesomelia) | A4980 |
| A4990 |
Syndromes|Pfeiffer Syndrome | A5000 |
Syndromes|Pick's Disease | A5010 |
Syndromes|Pierre Robin | A5020 |
Syndromes|PKU | A5030 |
Syndromes|Poland Sequence Syndrome | A5040 |
Syndromes|Pompe's disease | A5050 |
Syndromes|Porphyria | A5060 |
Syndromes|Potter's Syndrome | A5070 |
Syndromes|Prader Willi | A5080 |
Syndromes|Progeria | A5090 |
Syndromes|Progressive Spinobulbar muscular atrophy | A5100 |
Syndromes|Propionic acidemia (PROP) | A5110 |
Syndromes|Protein C deficiency | A5120 |
Syndromes|Proteus Syndrome | A5130 |
Syndromes|Prune belly syndrome | A5140 |
Syndromes|Pyruvate Carboxylase Deficiency | A5150 |
Syndromes|Pyruvate Dehydrogenase Deficiency | A5160 |
Syndromes|Renal Adysplasia | A5170 |
Syndromes|Restrictive Dermopathy | A5180 |
Syndromes|Retinis Pigmentosa | A5190 |
Syndromes|Retinoblastoma | A5200 |
Syndromes|Rubenstein-Taybi Syndrome | A5210 |
Syndromes|Russell-Silver Syndrome | A5220 |
Syndromes|Short rib polydactyly syndrome - type VII | A5230 |
Syndromes|Short-rib-Polydactyly Syndrome | A5240 |
Syndromes|Sialidosis | A5250 |
Syndromes|Sickle Cell Anemia | A5260 |
Syndromes|Situs Ambiguous | A5270 |
Syndromes|Sjogren syndrome | A5280 |
Syndromes|Smith-Lemli-Opitz | A5290 |
Syndromes|Smith-Magenis Syndrome | A5300 |
Syndromes|Sotos Syndrome | A5310 |
Syndromes|Spinal Muscular Atrophy | A5320 |
Syndromes|Stickler Syndrome | A5330 |
Syndromes|Sturge-Weber Syndrome | A5340 |
Syndromes|Syndrome not otherwise specified | A5350 |
Syndromes|TAR (thrombocytopenia-absent radius) syndrome | A5360 |
Syndromes|Tay-Sachs - gm2-gangliosidosis type 1 | A5370 |
Syndromes|Thalassaemia-alpha | A5380 |
Syndromes|Thalassemia-beta | A5390 |
Syndromes|Thanantrophic dysplasis | A5400 |
Syndromes|Treacher Collins syndrome | A5410 |
Syndromes|Tuberous Sclerosis | A5420 |
Syndromes|Tumours (Sacrococcygeal Teratoma; Paragangliomata) | A5430 |
Syndromes|Tyrosinemia type I (TYR I) | A5440 |
Syndromes|VATER syndrome | A5450 |
Syndromes|Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) | A5460 |
Syndromes|Von Willibrand Disease | A5470 |
Syndromes|Waardenberg Syndrome | A5480 |
Syndromes|Walker-Warburg Syndrome | A5490 |
Syndromes|Williams syndrome (idiopathic hypercalcaemia) | A5500 |
Syndromes|Wilson Disease | A5510 |
Syndromes|Wolf-hirschhorn syndrome | A5520 |
Syndromes|Xeroderma Pigmentosum | A5530 |
Syndromes|Zellweger (cerebro-hepato-renal) syndrome | A5540 |
Teratogenic Exposures | TERAEXP |
Teratogenic Exposures|Diabetic Embryopathy | A5560 |
Teratogenic Exposures|Etretinate embryopathy | A5570 |
Teratogenic Exposures|Fetal alcohol syndrome | A5580 |
Teratogenic Exposures|Fetal aminopterin/methotrexate syndrome | A5590 |
Teratogenic Exposures|Fetal hydantoin syndrome | A5600 |
Teratogenic Exposures|Fetal valproate syndrome | A5610 |
Teratogenic Exposures|Isotretinoin teratogen syndrome | A5620 |
Teratogenic Exposures|Maternal Phenylketonuria | A5630 |
Teratogenic Exposures|Other -teratogenic embryopathy | A5700 |
Teratogenic Exposures|Other-antiepileptic embryopathy | A5710 |
Teratogenic Exposures|Retinoic acid embryopathy | A5640 |
Teratogenic Exposures|Rhesus Disease | A5650 |
Teratogenic Exposures|Thalidomide embryopathy | A5660 |
Teratogenic Exposures|Toluene embryopathy | A5670 |
Teratogenic Exposures|Vitamin A teratogenicity | A5680 |
Teratogenic Exposures|Warfarin dysmorphism | A5690 |
Thorax | THORAX |
Thorax|Agenesis of lung | A5730 |
Thorax|Bronchopulmonary sequestration (BPS) | A5740 |
| A5750 |
| A5760 |
Thorax|Congenital high airway obstruction (CHAOS) | A5770 |
Thorax|Diaphragmatic hernia; Congenital (CDH) | A5780 |
Thorax|Echogenic lung(s) | A5790 |
Thorax|Eventration of diaphragm | A5800 |
Thorax|Lung cysts-other | A5810 |
| A5860 |
| A5870 |
Thorax|Pectus carinatum | A5820 |
Thorax|Pectus excavatum | A5830 |
Thorax|Pleural effusion(s) (hydrothorax) | A5840 |
Thorax|Pulmonary hypoplasia | A5850 |
Twins | TWINS |
Twins|Acardiac twin | A5890 |
Twins|Conjoined twins | A5900 |
Twins|Dichorionic (DC) twins | A5910 |
Twins|Discordant DC twin growth | A5920 |
Twins|Discordant MC twin growth | A5930 |
Twins|Discordant twin anomaly | A5940 |
Twins|Mono-amniotic (MA) twins | A5950 |
Twins|Monochorionic diamniotic (MC/DA) twins | A5960 |
| A5980 |
Twins|Twin-twin transfusion syndrome (TTTS) | A5970 |
Unknown | UN |