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Prenatal Screening Follow-up


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Data Dictionary
BORN ID Data Element Name Data Element Definition Data Type Pick List Value
MMMSS0092 Ultrasound Fetal Assessment (Level II) Indication that a level II ultrasound was offered by the follow up clinic where the woman was seen. If the level II ultrasound was offered by the woman's primary health care provider, select "By Physician" int
View ListAcceptedDeclinedNot offerredBy physician
MMMSS0134 Type of screening Type of prenatal screening (e.g. integrated prenatal screening, first trimester screening, quad screening, etc). int
View ListFTS with Free B-hCGFTS with Total hCG2-Marker FTS (Free B-hCG, PAPP-A)2-Marker FTS (NT, Free B-hCG)2-Marker FTS (NT, PAPP-A)2-Marker FTS (Total hCG, PAPP-A)2-Marker FTS (NT, Total hCG)4-Marker IPS without NT4-Marker IPS without PAPP-AIPSSIPSNT+QUADIPS6Triple TestMSS QUADNT OnlyPAPP-A OnlyAF-AFPMS-AFPOther Uncommon Tests
PSDP002 Type of Prenatal Diagnostic Procedure The type of prenatal diagnostic procedure that was offered. int
View ListAmniocentesisBiopsyChorionic Villus Sampling (CVS)Embryoscopy/FetoscopyFetal Blood Sampling (FBS)
PNFU0080-4 Soft markers of ultrasound Measurement Value Measurement of the soft marker or obstetrical imaging finding
PNFU0080-3 Soft markers of ultrasound Measurement Name Name of the soft marker or obstetrical imaging finding int
View ListRight Dimension (mm)Left Dimension (mm)Measurement (mm)Right Measurement (mm)Left Measurement (mm)HC PercentileBPD PercentileAC PercentileFL PercentileAFI (amniotic fluid index)Right PercentileLeft PercentileDegree of AngleNT MoMDelta NT
PNFU0080-2 Soft markers of ultrasound (level 2) The detailed description of the soft marker or obstetrical ultrasound finding where available int
View Listmildmoderatesevereseptatednot septatednormalabnormal (reversed)Not otherwise specifiedbiventricularL ventricleR ventricleL atriumR atriumsinglemultiplegrade I (less bright than bone)grade II (as bright as bone)grade III (brighter than bone)rightleftUnilateralbilateralright artery absentleft artery absentnot otherwise specifiedsymmetricalasymmetricaln/aUnknown
PNFU0080-1 Soft markers of ultrasound Variants of normal development detected by obstetrical ultrasound at specific periods during gestation which may increase the risk of a fetal anomaly and / or adverse obstetrical outcome int
View Listabsent nasal boneanhydramniosbrachycephalychoroid plexus cystsclinodactylycystic hygromaductus venosus blood flowechogenic yolk sacenlarged cisterna magnafrontomaxillary facial anglehydronephrosishyperechogenic bowelhypoplastic nasal boneiliac angleIncreased nuchal fold / edemaincreased nuchal translucencyintracardiac echogenic focus / fociiintrauterine growth retardationoligohydramniospericardial effusionplacental thicknesspleural effusionpolyhydramniosrenal pelvessandal gapshort femurshort humerussmall ear lengthtricuspid valve regurgitationtwo vessel cord / single umbilical arteryumbilical cord cystuterine artery notchingventriculomegaly
MMMSS0087 Result Amendment Indication maternal serum screening result was amended. char(1)
MMMSS0090 Referral for genetic counselling Indication as to whether clinical follow-up services were offered and/or accepted. int
View ListAcceptedDeclinedNot offeredNo Response
MMMSS0089 Reasons for Reclassification from Positive Reason(s) a prenatal screen result was amended int
View Listdiscrepancy between ultrasound and LMP datingerror in data entryincomplete data provided on requisitionincorrect data provided on requisitionmultiple pregnancyotherraceweight
PNS10018 PSO Type of increased risk Indicates the initial results of a woman's prenatal screen int
View ListPositive for Down syndromeNegative for Down syndromePositive for Trisomy 18Negative for Trisomy 18Positive for ONTDNegative for ONTDIncreased NT (3.0mm - 3.49mm)Increased NT (>3.5mm)Result not yet available
MMMSCNAN001 PSO newborn final diagnosis int
View ListHead-Cranium & BrainHead-Cranium & Brain|Absent cerebellar vermisHead-Cranium & Brain|Absent cerebellumHead-Cranium & Brain|AcraniaHead-Cranium & Brain|Agenesis of corpus callosum (ACC)Head-Cranium & Brain|AnencephalyHead-Cranium & Brain|Aqueductal stenosisHead-Cranium & Brain|Arachnoid cyst(s)Head-Cranium & Brain|ArhinencephalyHead-Cranium & Brain|Arnold Chiari malformationHead-Cranium & Brain|Atresia of foramina of Magendie & LuschkaHead-Cranium & Brain|Banana cerebellumHead-Cranium & Brain|BrachycephalyHead-Cranium & Brain|Brain tumorHead-Cranium & Brain|Calcification - intracranialHead-Cranium & Brain|Cerebellar & posterior fossa haemorrhageHead-Cranium & Brain|Cerebral AVM (arteriovenous malformation)Head-Cranium & Brain|Cloverleaf shaped headHead-Cranium & Brain|Congenital cerebral cystsHead-Cranium & Brain|CraniorachischisisHead-Cranium & Brain|CraniosynostosisHead-Cranium & Brain|Dandy-Walker malformation / variant (DWM)Head-Cranium & Brain|DolichocephalyHead-Cranium & Brain|EncephaloceleHead-Cranium & Brain|Enlarged cisterna magnaHead-Cranium & Brain|ExencephalyHead-Cranium & Brain|ExencephalyHead-Cranium & Brain|HoloprosencephalyHead-Cranium & Brain|HydranencephalyHead-Cranium & Brain|HydrocephalusHead-Cranium & Brain|IniencephalyHead-Cranium & Brain|Intracerebral haemorrhageHead-Cranium & Brain|Intraventricular haemorrhage (IVH)Head-Cranium & Brain|LissenchephalyHead-Cranium & Brain|MacrocephalyHead-Cranium & Brain|MegalencephalyHead-Cranium & Brain|MicrocephalyHead-Cranium & Brain|PlagiocephalyHead-Cranium & Brain|Porencephalic cyst(s)Head-Cranium & Brain|Posterior fossa cystHead-Cranium & Brain|Prominent foreheadHead-Cranium & Brain|Prominent occiputHead-Cranium & Brain|SeizuresHead-Cranium & Brain|Septo-optic dysplasiaHead-Cranium & Brain|Small cerebellumHead-Cranium & Brain|Subarachnoid haemorrhageHead-Cranium & Brain|Vein of Galen aneurysmHead-Cranium & Brain|Ventriculomegaly - mild (10-15 mm)Head-Cranium & Brain|Ventriculomegaly - severe (>15 mm)Head-Cranium & Brain|Other - malformations of the head & BrainFaceFace|EARSFace|EARS-Ears - absent (anotia)Face|EARS-Ears - low setFace|EARS-Ears - small (microtia)Face|EYESFace|EYES-AnophthalmiaFace|EYES-Congenital cataractFace|EYES-CyclopsFace|EYES-HypertelorismFace|EYES-HypotelorismFace|EYES-MacrophthalmiaFace|EYES-MicrophthalmiaFace|EYES-RetinoblastomaFace|AbnormalitiesFace|MOUTHFace|MOUTH-Cleft lipFace|MOUTH-Cleft lip & palateFace|MOUTH-Cleft palateFace|MOUTH-Flat faceFace|MOUTH-MacroglossiaFace|MOUTH-MicrognathiaFace|MOUTH-RetrognathiaFace|NOSEFace|NOSE-Absent noseFace|NOSE-Choanal atresiaFace|NOSE-Hypoplastic noseFace|NOSE-ProboscisFace|NOSE-Single nostrilFace|Tumour of faceFace|Tumour of face OtherFace|Other - malformations of the faceNeckNeck|Cervical teratomaNeck|Cystic hygromaNeck|Neck tumour - otherNeck|Other - malformations of the neckThoraxThorax|Agenesis of lungThorax|Bronchopulmonary sequestration (BPS)Thorax|Chest wall deformityThorax|Congenital cystic adenomatoid malformation of lung (CCAML)Thorax|Congenital high airway obstruction (CHAOS)Thorax|Diaphragmatic hernia Congenital (CDH)Thorax|Echogenic lung(s)Thorax|Eventration of diaphragmThorax|Lung cysts-otherThorax|Pectus carinatumThorax|Pectus excavatumThorax|Pleural effusion(s) (hydrothorax)Thorax|Pulmonary hypoplasiaThorax|Other - congenital malformations of lungThorax|Other congenital malformations of diaphragmCardiovascularCardiovascular|Aorta - pulmonary windowCardiovascular|Aortic arch - doubleCardiovascular|Aortic arch - interruptedCardiovascular|Aortic atresiaCardiovascular|Aortic valve insufficiencyCardiovascular|Aortic valve stenosisCardiovascular|ArrhythmiaCardiovascular|Atrial fibrillationCardiovascular|Atrial flutterCardiovascular|Atrial septal defect (ASD)Cardiovascular|Atrioventricular septal defect (AVSD) (endocardial cushion defect)Cardiovascular|Bilateral SVC (superior vena cava)Cardiovascular|Bradycardia (bradyarrhythmia)Cardiovascular|Cardiac dysfunctionCardiovascular|Cardiac tumour / massCardiovascular|CardiomegalyCardiovascular|Cardiomyopathy - dilatedCardiovascular|Cardiomyopathy - fetus of diabetic motherCardiovascular|Cardiomyopathy - hypertrophic (HOCM)Cardiovascular|Coarctation of aortaCardiovascular|Common atriumCardiovascular|Complete Heart BlockCardiovascular|Incomplete Congenital heart block (CHB)Cardiovascular|Congenital heart diseaseCardiovascular|Coronary artery fistulaCardiovascular|DextrocardiaCardiovascular|Dilated ascending aortaCardiovascular|Diverticulum - LVCardiovascular|Diverticulum - RVCardiovascular|Double inlet left ventricle (DILV)Cardiovascular|Double inlet right ventricle (DIRV)Cardiovascular|Double outlet left ventricle (DOLV)Cardiovascular|Double outlet right ventricle (DORV)Cardiovascular|Ductus arteriosus - premature closureCardiovascular|Ductus arteriosus aneurysmCardiovascular|Ductus venosus - agenesisCardiovascular|Ebstein anomalyCardiovascular|Ectopia cordisCardiovascular|EFE (endocardial fibroelastosis)Cardiovascular|Endocardial fibroelastosis (EFE)Cardiovascular|Fibroma - cardiacCardiovascular|HLHS (hypoplastic left heart syndrome)Cardiovascular|Hypoplastic aortic archCardiovascular|Hypoplastic left heart syndrome (HLHS)Cardiovascular|Hypoplastic right heart syndrome (HRHS)Cardiovascular|Interrupted IVC (superior vena cava)Cardiovascular|Left atrial isomerism (heterotaxy)Cardiovascular|Mitral regurGastrointestinalationCardiovascular|Mitral stenosisCardiovascular|Mitral valve dysplasiaCardiovascular|Partial anomalous pulmonary venous drainage (PAPVD)Cardiovascular|Pericardial/Paracardial cystCardiovascular|Pericardial effusionCardiovascular|Persistent left SVC (superior vena cava)Cardiovascular|Premature atrial contractions (PAC's)Cardiovascular|Premature closure of atrial septum (PFO)Cardiovascular|Premature ventricular contractions (PVC's)Cardiovascular|Pulmonary (valve) atresiaCardiovascular|Pulmonary (valve) stenosis (PS)Cardiovascular|Pulmonary insufficiencyCardiovascular|Pulmonary valve dysplasiaCardiovascular|Rhabdomyoma(s) - cardiacCardiovascular|Right aortic archCardiovascular|Right atrial isomerism (heterotaxy)Cardiovascular|Scimitar syndromeCardiovascular|Shone's syndromeCardiovascular|Single outlet ventricleCardiovascular|Single ventricle (univentricular heart)Cardiovascular|Single ventricle / univentricular connectionCardiovascular|Situs inversus - cardiacCardiovascular|Subaortic stenosisCardiovascular|Supra ventricular tachycardia (SVT)Cardiovascular|Tachycardia (tachyarrhythmia)Cardiovascular|TAPVD (total anomalous pulmonary venous drainage)Cardiovascular|Tetralogy of Fallot (TOF)Cardiovascular|Total anomalous pulmonary venous drainage (TAPVD)Cardiovascular|Transposition of great arteries - complete (CTGA)Cardiovascular|Transposition of great arteries - congenitally corrected (CCTGA)Cardiovascular|Transposition of great vessels (TGA)Cardiovascular|Tricuspid atresiaCardiovascular|Tricuspid regurGastrointestinalationCardiovascular|Tricuspid stenosisCardiovascular|Tricuspid valve dysplasiaCardiovascular|Truncus arteriosisCardiovascular|Vascular ringCardiovascular|Valvular AnomaliesCardiovascular|Ventricular septal defect (VSD)Cardiovascular|Ventricular tachycardiaCardiovascular|Other - cardiac malformations not classified elsewhereCardiovascular|Other heart abnormalitiesAbdominal WallAbdominal Wall|Body stalk anomaly (limb body wall complex)Abdominal Wall|Cloacal exstrophyAbdominal Wall|GastroschisisAbdominal Wall|Limb body wall complex (body stalk anomaly)Abdominal Wall|Omphalocele (exomphalos)Abdominal Wall|Pentalogy of CantrellAbdominal Wall|Umbilical herniaAbdominal Wall|Other - congenital malformations of abdominal wallGastrointestinalGastrointestinal|Abnormal EsophagusGastrointestinal|Abnormal GallbladderGastrointestinal|Abnormal Large BowelGastrointestinal|Abnormal LiverGastrointestinal|Abnormal Small BowelGastrointestinal|Abnormal StomachGastrointestinal|Absent gallbladderGastrointestinal|Absent stomachGastrointestinal|Adrenal cyst(s)Gastrointestinal|AscitesGastrointestinal|AspleniaGastrointestinal|Atresia and stenosis intestineGastrointestinal|Biliary atresiaGastrointestinal|Choledochal cyst(s)Gastrointestinal|Dilated gallbladderGastrointestinal|Dilated stomachGastrointestinal|Duodenal atresiaGastrointestinal|HepatomegalyGastrointestinal|Hirschsprung's diseaseGastrointestinal|HyperperistalsisGastrointestinal|Imperforate anusGastrointestinal|Intra-abdominal cyst(s)Gastrointestinal|Large bowel obstructionGastrointestinal|Liver cyst(s)Gastrointestinal|Liver noduleGastrointestinal|Meconium ileusGastrointestinal|Meconium peritonitisGastrointestinal|Mesenteric cystGastrointestinal|Oesophageal atresiaGastrointestinal|Oesophageal diverticulumGastrointestinal|Ovarian cyst(s)Gastrointestinal|Pancreatic cyst(s)Gastrointestinal|Perinatal intestinal perforationGastrointestinal|PolyspleniaGastrointestinal|Pyloric stenosisGastrointestinal|Situs inversus - abdominalGastrointestinal|Small bowel obstructionGastrointestinal|SplenomegalyGastrointestinal|Tracheo-oesophageal fistula (TEF)Gastrointestinal|Other - malformations of the gastro-intestinal tractGenitourinary TractGenitourinary Tract|Ambiguous genitalia / indeterminate sexGenitourinary Tract|Autosomal dominant polycystic kidney disease (ADPKD)Genitourinary Tract|Autosomal recessive polycystic kidney disease (ARPKD)Genitourinary Tract|Bladder abnormalitiesGenitourinary Tract|Bladder diverticulumGenitourinary Tract|Bladder exstrophyGenitourinary Tract|Cloacal dysgenesisGenitourinary Tract|Cloacal exstrophyGenitourinary Tract|Cystic kidney(s) - otherGenitourinary Tract|Duplex kidney/collecting systemGenitourinary Tract|Echogenic kidney(s)Genitourinary Tract|Ectopic/pelvic kidneyGenitourinary Tract|HydrocoeleGenitourinary Tract|Hydronephrosis (>10 mm)Genitourinary Tract|Hyperplastic & giant kidney(s)Genitourinary Tract|Hypoplastic kidney(s)Genitourinary Tract|HypospadiasGenitourinary Tract|Lower urinary tract obstruction (LUTO)Genitourinary Tract|MegacystisGenitourinary Tract|MegaureterGenitourinary Tract|Multicystic kidney disease (MCKD)Genitourinary Tract|Posterior urethral valves (PUV)Genitourinary Tract|Prune bellyGenitourinary Tract|PseudohermaphroditismGenitourinary Tract|Renal AbnormalitiesGenitourinary Tract|Renal agenesisGenitourinary Tract|Renal cystGenitourinary Tract|Renal dysplasiaGenitourinary Tract|Undescended testicle(s)Genitourinary Tract|Ureter AbnormalitiesGenitourinary Tract|UreterocoeleGenitourinary Tract|Urethral atresiaGenitourinary Tract|Urethral obstruction malformation complexGenitourinary Tract|Other - malformations of female genitaliaGenitourinary Tract|Other - malformations of male genitaliaGenitourinary Tract|Other - malformations of urinary systemSpine - BackSpine - Back|Ankylosing spondylitisSpine - Back|Caudal regression syndromeSpine - Back|NTD (neural tube defect) with hydrocephalusSpine - Back|NTD (neural tube defect) without hydrocephalusSpine - Back|Sacral agenesisSpine - Back|Sacrococcygeal teratoma (SCT)Spine - Back|Other - malformations of the spineExtremities-skeletalExtremities-skeletal|AbnormalitiesExtremities-skeletal|Arms/legsExtremities-skeletal|Arms/legs-Bowed femurExtremities-skeletal|Arms/legs-Bowed humerusExtremities-skeletal|Arms/legs-Bowed radius &/or ulnaExtremities-skeletal|Arms/legs-Bowed tibia &/or fibulaExtremities-skeletal|Arms/legs-Fracture(s) - long bonesExtremities-skeletal|Generalized/otherExtremities-skeletal|Generalized/other-Akinesia deformation sequence fetal (FADS)Extremities-skeletal|Generalized/other-Arthrogryposis multiplex congenitaExtremities-skeletal|Generalized/other-Congenital malformations of spine & bony thoraxExtremities-skeletal|Generalized/other-Fixed flexion deformityExtremities-skeletal|Generalized/other-Fracture(s) - ribsExtremities-skeletal|Generalized/other-Hip Dislocation congenitalExtremities-skeletal|Generalized/other-HypomineralizationExtremities-skeletal|Generalized/other-Limb reduction defect(s) (LRD) - lower limbExtremities-skeletal|Generalized/other-Limb reduction defect(s) (LRD) - upper limbExtremities-skeletal|Generalized/other-Malformation of sternumExtremities-skeletal|Generalized/other-PhocomeliaExtremities-skeletal|Generalized/other-SirenomeliaExtremities-skeletal|Generalized/other-Skeletal dysplasia -otherExtremities-skeletal|Hands/feetExtremities-skeletal|Hands/feet-Adactyly (absent fingers/ toes)Extremities-skeletal|Hands/feet-Brachydactyly (short fingers/toes)Extremities-skeletal|Hands/feet-Clenched hands (persistently)Extremities-skeletal|Hands/feet-Clinodactyly (fifth finger)Extremities-skeletal|Hands/feet-Club footExtremities-skeletal|Hands/feet-Ectrodactyly (lobster-claw / cleft hand)Extremities-skeletal|Hands/feet-Fused toesExtremities-skeletal|Hands/feet-Overlapping fingersExtremities-skeletal|Hands/feet-Polydactyly (feet)Extremities-skeletal|Hands/feet-Polydactyly (hands)Extremities-skeletal|Hands/feet-Radial ray anomaly (absent thumb)Extremities-skeletal|Hands/feet-Rocker-bottom feetExtremities-skeletal|Hands/feet-Sandal gap toesExtremities-skeletal|Hands/feet-Syndactyly (feet)Extremities-skeletal|Hands/feet-Syndactyly (hands)Extremities-skeletal|Hands/feet-Webbed fingersExtremities-skeletal|Hands/feet-Webbed toesExtremities-skeletal|Muscle/connective tissue disordersExtremities-skeletal|Muscle/connective tissue disorders-Duchenne muscular dystrophy (DMD)Extremities-skeletal|Muscle/connective tissue disorders-Ehlers-Danlos syndromeExtremities-skeletal|Muscle/connective tissue disorders-HypotoniaExtremities-skeletal|Muscle/connective tissue disorders-Spinal muscular atrophy (SMA)Extremities-skeletal|Muscle/connective tissue disorders-Other - malformations of the musculoskeletal systemExtremities-skeletal|Skeletal DysplasiasExtremities-skeletal|Skeletal Dysplasias-AchondrogenesisExtremities-skeletal|Skeletal Dysplasias-AchondroplasiaExtremities-skeletal|Skeletal Dysplasias-Campomelic dysplasiaExtremities-skeletal|Skeletal Dysplasias-Chondrodysplasia punctataExtremities-skeletal|Skeletal Dysplasias-Diastrophic dysplasiaExtremities-skeletal|Skeletal Dysplasias-Ellis-van Creveld syndromeExtremities-skeletal|Skeletal Dysplasias-Osteogenesis imperfectaExtremities-skeletal|Skeletal Dysplasias-Short rib polydactyly syndrome - type VIIExtremities-skeletal|Skeletal Dysplasias-Thanatophoric dysplasiaStructural-otherStructural-other|Amniotic BandsStructural-other|Failure to thriveStructural-other|Normal - no anomaly detectedStructural-other|Other - malformations not classified elsewhereChromosomesChromosomes|45,X (Turner syndrome)Chromosomes|47,XXXChromosomes|47,XXY (Klinefelter syndrome)Chromosomes|47,XYYChromosomes|Array CGH abnormal or otherChromosomes|Balanced translocationChromosomes|Deletion - otherChromosomes|Di George Syndrome (22 q11 deletion)Chromosomes|Microdeletion syndrome - otherChromosomes|MosaicismChromosomes|Normal female 46,XXChromosomes|Normal male 46,XYChromosomes|Paracentric inversionChromosomes|Pericentric inversionChromosomes|Triploidy /polploidyChromosomes|Trisomy - otherChromosomes|Trisomy 13Chromosomes|Trisomy 18Chromosomes|Trisomy 21 (Down syndrome)Chromosomes|Trisomy 21 (Down syndrome) - mosaicChromosomes|Trisomy 21 (Down syndrome) - translocationChromosomes|Unbalanced translocationChromosomes|OtherCongenital InfectionsCongenital Infections|CMV (cytomegalovirus) infection - congenitalCongenital Infections|Enterovirus infectionsCongenital Infections|Herpes simplex virus (HSV) infection - congenitalCongenital Infections|HIVCongenital Infections|Rubella syndrome - congenitalCongenital Infections|ToxoplasmosisCongenital Infections|Tuberculosis (TB) - congenitalCongenital Infections|Varicella-zoster virusCongenital Infections|Other - infectionsTeratogenic ExposuresTeratogenic Exposures|Diabetic EmbryopathyTeratogenic Exposures|Etretinate embryopathyTeratogenic Exposures|Fetal alcohol syndromeTeratogenic Exposures|Fetal aminopterin/methotrexate syndromeTeratogenic Exposures|Fetal hydantoin syndromeTeratogenic Exposures|Fetal valproate syndromeTeratogenic Exposures|Isotretinoin teratogen syndromeTeratogenic Exposures|Maternal PhenylketonuriaTeratogenic Exposures|Retinoic acid embryopathyTeratogenic Exposures|Rhesus DiseaseTeratogenic Exposures|Thalidomide embryopathyTeratogenic Exposures|Toluene embryopathyTeratogenic Exposures|Vitamin A teratogenicityTeratogenic Exposures|Warfarin dysmorphismTeratogenic Exposures|Other -teratogenic embryopathyTeratogenic Exposures|Other-antiepileptic embryopathyTwinsTwins|Acardiac twinTwins|Conjoined twinsTwins|Dichorionic (DC) twinsTwins|Discordant DC twin growthTwins|Discordant MC twin growthTwins|Discordant twin anomalyTwins|Mono-amniotic (MA) twinsTwins|Monochorionic diamniotic (MC/DA) twinsTwins|Twin-twin transfusion syndrome (TTTS)Twins|Other - malformations of twinsNoneSyndromesSyndromes|Aarskogs SyndromeSyndromes|AchondrogenesisSyndromes|AchondroplasiaSyndromes|Acroesomelic DysplasiaSyndromes|Acrofacial DysostosisSyndromes|Adrenal HyperplasiaSyndromes|Alpha-1-AntitrypsinSyndromes|Alports SyndromeSyndromes|Amyloplasia CongenitaSyndromes|Angelmans SyndromeSyndromes|AnophthalmiaSyndromes|Aqueductal stenosis - X linked (L1 syndrome)Syndromes|Arthrogryposis Multiplex CongenitiaSyndromes|Ataxia-telangiectasisSyndromes|Autosomal dominant polycystic kidney diseaseSyndromes|Autosomal Recessive Polycystic Kidney DiseaseSyndromes|Beckwith-WiedemannSyndromes|Biotinidase deficiency (BIOT)Syndromes|CADASILSyndromes|CAH (Congenital Adrenal Hyperplasia)Syndromes|Camptomelic dysplaiaSyndromes|Carnitine uptake defect (CUD)Syndromes|Caudal regression syndromeSyndromes|Cerebral PalsySyndromes|Charcot-Marie-ToothSyndromes|CHARGE associationSyndromes|Chronrodysplasia PunctataSyndromes|Cleidocranial DysplasiaSyndromes|Coffin-Lowry syndromeSyndromes|Congenital hypothyroidism (HYPOTH)Syndromes|Congenital Myotonic DystrophySyndromes|Congenital Nephrotic SyndromeSyndromes|Cornelia DelangeSyndromes|CPS (Carbamyl Phosphate Deficiency)Syndromes|Craniosynotsis Saethre-CrouzonSyndromes|Cri-du-Chat SyndromeSyndromes|Crouzon's syndromeSyndromes|CryptophthalmusSyndromes|Cystic FibrosisSyndromes|Dandy-walker syndromeSyndromes|DextrocardiaSyndromes|Diastrophic dysplasiaSyndromes|Digeorge SyndromeSyndromes|Dysautonomia - familialSyndromes|Ectodermal DysplasiaSyndromes|Ehlers-Danlos syndromeSyndromes|Ellis Van Creveld SyndromeSyndromes|Epidermolysis BullosaSyndromes|F-HYPDRR Familial hypophosphatemiaSyndromes|Fabry's DiseaseSyndromes|Factor VSyndromes|Fanconi AnemiaSyndromes|Fragile X SyndromeSyndromes|Fraser Syndrome - cryptophthalmos syndromeSyndromes|Freeman-Sheldon SyndromeSyndromes|Friederichs AtaxiaSyndromes|Frontonasal dysplasiaSyndromes|FSHD (Fascioscapulohumeral Muscular Dystrophy)Syndromes|Galactosemia (GALT)Syndromes|GaucherSyndromes|Gilbert's diseaseSyndromes|Glucose-6-phosphate dehydrogenase (G6PD)Syndromes|Glutaric acidemia type I (GA I)Syndromes|Goldenhar SyndromeSyndromes|Gorlin SyndromeSyndromes|GSD (Glycogen Storage Disease)Syndromes|Hard +/- e syndromeSyndromes|Harlequin IcthyosisSyndromes|Hemi-hypertrophySyndromes|Hemophilia A/ BSyndromes|Hereditary nephritisSyndromes|HHT (Hereditary Hemorrhagic Telangiectasia)Syndromes|HME (Hereditary Multiple Exostoses)Syndromes|Holt-OramSyndromes|HomocystinosisSyndromes|Homocystinuria (HCY)Syndromes|Hunters SundromeSyndromes|Hurlers SyndromeSyndromes|Hydrochephalus X-LinkedSyndromes|HydrolethalusSyndromes|HypochondroplasiaSyndromes|HypoglycemiaSyndromes|HypophosphatasiaSyndromes|Ichthyosis (non X-linked)Syndromes|Ichthyosis X-linked (STS deficiency)Syndromes|Idiopathic hypoparathyroidismSyndromes|Incontinentia PigmentiSyndromes|Isovaleric academia (IVA)Syndromes|Ivemark SyndromeSyndromes|Jourbert SyndromeSyndromes|Klippel-Trenaunay SyndromeSyndromes|KrabbeSyndromes|Larsen SyndromeSyndromes|LCHADSyndromes|Leigh's SyndromeSyndromes|Lesch NyhanSyndromes|Limb girdle dystrophySyndromes|Limb-Girdle Muscular DystrophySyndromes|Long Q-T SyndromeSyndromes|Lysosmal Storage Disease (IEM)Syndromes|Machado-Joseph DiseaseSyndromes|Maple syrup urine disease (MSUD)Syndromes|Marfan syndromeSyndromes|McKusic-Koffman SyndromeSyndromes|Meckel-Gruber syndromeSyndromes|Medium chain acyl-CoA dehydrogenase deficiency (MCAD)Syndromes|MELASSyndromes|MenkesSyndromes|MERFFSyndromes|Metachromatic LeukodystrophySyndromes|Methylenetetrahydrofolate Reductase DeficiencySyndromes|Methylmalonic AcidemiaSyndromes|Methylmalonic acidemia (Cbl AB)Syndromes|Methylmalonic acidemia (mutase deficiency) (MUT)Syndromes|Miller-Dieker SyndromeSyndromes|Morquio SyndromeSyndromes|MPS (Mucopolysaccharidosis)Syndromes|Multiple carboxylase deficiency (MCD)Syndromes|Multiple Congenital Anomalies (Unknown Origin)Syndromes|Multiple pterygium syndromeSyndromes|Myotonic DystrophySyndromes|Nail-Patella SyndromeSyndromes|Neurofibromatosis 1Syndromes|Neurofibromatosis 2Syndromes|Nieman-PickSyndromes|Noonan SyndromeSyndromes|OculodentiodiGastrointestinalal SyndromeSyndromes|Opitz SyndromeSyndromes|Oromandibular Limb HypogenesisSyndromes|Osteogenesis ImperfectaSyndromes|OTC DeficiencySyndromes|OtosclerosisSyndromes|Pallister-Hall SyndromeSyndromes|Pelizaeus-merzbacher-like diseaseSyndromes|Peters' anomaly (brachymesomelia)Syndromes|Peutz-Jeghers SyndromeSyndromes|Pfeiffer SyndromeSyndromes|Pick's DiseaseSyndromes|Pierre RobinSyndromes|PKUSyndromes|Poland Sequence SyndromeSyndromes|Pompe's diseaseSyndromes|PorphyriaSyndromes|Potter's SyndromeSyndromes|Prader WilliSyndromes|ProgeriaSyndromes|Progressive Spinobulbar muscular atrophySyndromes|Propionic acidemia (PROP)Syndromes|Protein C deficiencySyndromes|Proteus SyndromeSyndromes|Prune belly syndromeSyndromes|Pyruvate Carboxylase DeficiencySyndromes|Pyruvate Dehydrogenase DeficiencySyndromes|Renal AdysplasiaSyndromes|Restrictive DermopathySyndromes|Retinis PigmentosaSyndromes|RetinoblastomaSyndromes|Rubenstein-Taybi SyndromeSyndromes|Russell-Silver SyndromeSyndromes|Short rib polydactyly syndrome - type VIISyndromes|Short-rib-Polydactyly SyndromeSyndromes|SialidosisSyndromes|Sickle Cell AnemiaSyndromes|Situs AmbiguousSyndromes|Sjogren syndromeSyndromes|Smith-Lemli-OpitzSyndromes|Smith-Magenis SyndromeSyndromes|Sotos SyndromeSyndromes|Spinal Muscular AtrophySyndromes|Stickler SyndromeSyndromes|Sturge-Weber SyndromeSyndromes|Syndrome not otherwise specifiedSyndromes|TAR (thrombocytopenia-absent radius) syndromeSyndromes|Tay-Sachs - gm2-gangliosidosis type 1Syndromes|Thalassaemia-alphaSyndromes|Thalassemia-betaSyndromes|Thanantrophic dysplasisSyndromes|Treacher Collins syndromeSyndromes|Tuberous SclerosisSyndromes|Tumours (Sacrococcygeal Teratoma Paragangliomata)Syndromes|Tyrosinemia type I (TYR I)Syndromes|VATER syndromeSyndromes|Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Syndromes|Von Willibrand DiseaseSyndromes|Waardenberg SyndromeSyndromes|Walker-Warburg SyndromeSyndromes|Williams syndrome (idiopathic hypercalcaemia)Syndromes|Wilson DiseaseSyndromes|Wolf-hirschhorn syndromeSyndromes|Xeroderma PigmentosumSyndromes|Zellweger (cerebro-hepato-renal) syndrome
MMMSCNAN003 PSO Neonatal Death Indicates whether the infant died at less than 28 days of age as recorded and stored in the PSO follow up encounter int
View ListNoYesYes-With termination of pregnancy
MMMSFCHLDNUM PSO Follow-Up Child Order Number An indication of whether information is being collected on Child 1, Child 2, etc in the PSO Follow Up encounter int
MMMSFCHLDOHIP PSO Follow-Up Child OHIP Newborn Ontario Health Insurance Plan (OHIP) Number without version code as recorded and stored in the PSO follow up encounter. varchar(20)
MMMSCNAN002 PSO Final Diagnosis Confirmed by The way by which fetal or newborn congenital anomalies were diagnosed as recorded and stored in the prenatal screening follow up encounter int
View ListAutopsyDNA testingPhysical examinationChromosome analysisChromosome analysis - bloodChromosome analysis - products of conceptionChromosome analysis - biopsyChromosome analysis - autopsyChromosome analysis - unknownTORCHDiagnostic imaging (Xray, CT, MRI)BiopsyNot confirmedAntenatal U/S OnlyCGH micro arrayOther
PSDP001OF Prenatal Diagnostic Procedure Offered int
View ListAcceptedDeclinedNot offeredUnknown
PSDP008 Prenatal Diagnosis Test Results The results of the prenatal diagnostic test as selected from the defined pick list.
View Listabnormalabnormal, specify:affected, specifyaffected, specify disease and mutationsaffected, specify gene and mutationsaffected, specify mutationsaffected, specify repeat sizenot affected, specify repeat sizecarrier, specify disease and mutationcarrier, specify gene and mutationcarrier, specify mutationcarrier, specify repeat sizeDetectedno mutations detectedno mutations detected, specify gene(s):normalnormal femalenormal maleNot detectedUnknown
PSDP010 Prenatal Diagnosis Test Result Other Value The specific results of the prenatal diagnostic test as selected from the pick list or entered in free text nvarchar(255)
PSDP005 Prenatal Diagnosis Test Name Other The name of the specific test that was performed, entered as free text or selected from the FISH probe pick list if FISH was performed. nvarchar(255)
PSDP004 Prenatal Diagnosis Test Name The name of the specific test that was performed as selected from the defined pick list. int
View ListACHE-acetycholinesteraseAF-AFPAshkenazi Jewish Screening PanelBleeding disorders, otherCMV (cytomegalovirus)Connective Tissue disordersCystic FibrosisembryoscopyEntero VirusesfetoscopyFISH, specify:Fragile XHemoglobinopathyHemophiliaHerpes Simplex Virus (HSV)HIVHuman Parvo VirusKaryotypeMicroarrayMuscleMyotonic dystrophyNeuromuscular disordersQF-PCRRubellaSkeletal disorderSyphilisTay Sachs onlyToxoplasmosisVaricella-Zoster VirusOther, specify:Unknown
PSDP006 Prenatal Diagnosis Test is Successful Flag An indication as to whether the prenatal diagnostic procedure and / or analysis was successful. char(1)
PSDP007 Prenatal Diagnosis Test Failure Reason The explanation as to why the prenatal diagnostic procedure and / or analysis failed, entered as free text. nvarchar(255)
PSDP003 Prenatal Diagnosis Test Category The category(-ies) of prenatal diagnostic testing offered. int
View ListbiochemistryBiochemistry (Other)cytogeneticsinfectionmolecularBiopsy TypemuscleScope TypeotherUnknown
F0053 Pregnancy Outcome Indicates the outcome of this pregnancy, including live births, stillbirths, terminations and losses. int
View ListLive birthStillbirth at >20wks or >500gmsStillbirth at >20wks or >500gms |TerminationStillbirth at >20wks or >500gms |Spontaneous - Occurred during antepartum periodStillbirth at >20wks or >500gms |Spontaneous - Occurred during intrapartum periodPregnancy Loss <20 weeksPregnancy Loss <20 weeks |TerminationPregnancy Loss <20 weeks |Spontaneous MiscarriagePregnancy Continued
FAN0007 Number of Fetuses Number of fetuses in the current pregnancy. For Prenatal Screening Follow Up encounters, this field refers to the number of fetuses that the prenatal screening result was based on. int
View List12345678Unknown
D0021 Generic Comment Hospital specific comment nvarchar(500)
PSOF1565 Fetal Demise char(1)
D0022 Fetal Anomalies Suspected Identifies congenital anomalies that were suspected prenatally int
View ListHead-Cranium & BrainHead-Cranium & Brain|Banana cerebellumHead-Cranium & Brain|BrachycephalyHead-Cranium & Brain|Brain tumorHead-Cranium & Brain|Calcification - intracranialHead-Cranium & Brain|Cerebellar & posterior fossa haemorrhageHead-Cranium & Brain|Cerebral AVM (arteriovenous malformation)Head-Cranium & Brain|Cloverleaf shaped headHead-Cranium & Brain|Congenital cerebral cystsHead-Cranium & Brain|CraniorachischisisHead-Cranium & Brain|CraniosynostosisHead-Cranium & Brain|Dandy-Walker malformation / variant (DWM)Head-Cranium & Brain|DolichocephalyHead-Cranium & Brain|EncephaloceleHead-Cranium & Brain|Enlarged cisterna magnaHead-Cranium & Brain|ExencephalyHead-Cranium & Brain|ExencephalyHead-Cranium & Brain|HoloprosencephalyHead-Cranium & Brain|HydranencephalyHead-Cranium & Brain|HydrocephalusHead-Cranium & Brain|IniencephalyHead-Cranium & Brain|Intracerebral haemorrhageHead-Cranium & Brain|Intraventricular haemorrhage (IVH)Head-Cranium & Brain|LissenchephalyHead-Cranium & Brain|MacrocephalyHead-Cranium & Brain|MegalencephalyHead-Cranium & Brain|MicrocephalyHead-Cranium & Brain|PlagiocephalyHead-Cranium & Brain|Porencephalic cyst(s)Head-Cranium & Brain|Posterior fossa cystHead-Cranium & Brain|Prominent foreheadHead-Cranium & Brain|Prominent occiputHead-Cranium & Brain|SeizuresHead-Cranium & Brain|Septo-optic dysplasiaHead-Cranium & Brain|Small cerebellumHead-Cranium & Brain|Subarachnoid haemorrhageHead-Cranium & Brain|Vein of Galen aneurysmHead-Cranium & Brain|Ventriculomegaly - mild (10-15 mm)Head-Cranium & Brain|Ventriculomegaly - severe (>15 mm)Head-Cranium & Brain|Other - malformations of the head & BrainFaceFace|EARSFace|EARS-Ears - absent (anotia)Face|EARS-Ears - low setFace|EARS-Ears - small (microtia)Face|EYESFace|EYES-AnophthalmiaFace|EYES-Congenital cataractFace|EYES-CyclopsFace|EYES-HypertelorismFace|EYES-HypotelorismFace|EYES-MacrophthalmiaFace|EYES-MicrophthalmiaFace|EYES-RetinoblastomaFace|AbnormalitiesFace|MOUTHFace|MOUTH-Cleft lipFace|MOUTH-Cleft lip & palateFace|MOUTH-Cleft palateFace|MOUTH-Flat faceFace|MOUTH-MacroglossiaFace|MOUTH-MicrognathiaFace|MOUTH-RetrognathiaFace|NOSEFace|NOSE-Absent noseFace|NOSE-Choanal atresiaFace|NOSE-Hypoplastic noseFace|NOSE-ProboscisFace|NOSE-Single nostrilFace|Tumour of faceFace|Tumour of face OtherFace|Other - malformations of the faceNeckNeck|Cervical teratomaNeck|Cystic hygromaNeck|Neck tumour - otherNeck|Other - malformations of the neckThoraxThorax|Agenesis of lungThorax|Bronchopulmonary sequestration (BPS)Thorax|Chest wall deformityThorax|Congenital cystic adenomatoid malformation of lung (CCAML)Thorax|Congenital high airway obstruction (CHAOS)Thorax|Diaphragmatic hernia Congenital (CDH)Thorax|Echogenic lung(s)Thorax|Eventration of diaphragmThorax|Lung cysts-otherThorax|Pectus carinatumThorax|Pectus excavatumThorax|Pleural effusion(s) (hydrothorax)Thorax|Pulmonary hypoplasiaThorax|Other - congenital malformations of lungThorax|Other congenital malformations of diaphragmCardiovascularCardiovascular|Aorta - pulmonary windowCardiovascular|Aortic arch - doubleCardiovascular|Aortic arch - interruptedCardiovascular|Aortic atresiaCardiovascular|Aortic valve insufficiencyCardiovascular|Aortic valve stenosisCardiovascular|ArrhythmiaCardiovascular|Atrial fibrillationCardiovascular|Atrial septal defect (ASD)Cardiovascular|Atrioventricular septal defect (AVSD) (endocardial cushion defect)Cardiovascular|Bilateral SVC (superior vena cava)Cardiovascular|Bradycardia (bradyarrhythmia)Cardiovascular|Cardiac dysfunctionCardiovascular|Cardiac tumour / massCardiovascular|CardiomegalyCardiovascular|Cardiomyopathy - dilatedCardiovascular|Cardiomyopathy - fetus of diabetic motherCardiovascular|Cardiomyopathy - hypertrophic (HOCM)Cardiovascular|Coarctation of aortaCardiovascular|Common atriumCardiovascular|Complete Heart BlockCardiovascular|Incomplete Congenital heart block (CHB)Cardiovascular|Congenital heart diseaseCardiovascular|Coronary artery fistulaCardiovascular|DextrocardiaCardiovascular|Dilated ascending aortaCardiovascular|Diverticulum - LVCardiovascular|Diverticulum - RVCardiovascular|Double inlet ventricle (DIV)Cardiovascular|Double outlet ventricle (DOV)Cardiovascular|Ductus arteriosus - premature closureCardiovascular|Ductus arteriosus aneurysmCardiovascular|Ductus venosus - agenesisCardiovascular|Ebstein anomalyCardiovascular|Ectopia cordisCardiovascular|Endocardial fibroelastosis (EFE)Cardiovascular|Fibroma - cardiacCardiovascular|Hypoplastic aortic archCardiovascular|Hypoplastic left heart syndrome (HLHS)Cardiovascular|Hypoplastic right heart syndrome (HRHS)Cardiovascular|Interrupted IVC (superior vena cava)Cardiovascular|Left atrial isomerism (heterotaxy)Cardiovascular|Mitral regurgitationCardiovascular|Mitral stenosisCardiovascular|Mitral valve dysplasiaCardiovascular|Partial anomalous pulmonary venous drainage (PAPVD)Cardiovascular|Pericardial/Paracardial cystCardiovascular|Pericardial effusionCardiovascular|Premature atrial contractions (PAC's)Cardiovascular|Premature closure of atrial septum (PFO)Cardiovascular|Premature ventricular contractions (PVC's)Cardiovascular|Pulmonary (valve) atresiaCardiovascular|Pulmonary (valve) stenosis (PS)Cardiovascular|Pulmonary insufficiencyCardiovascular|Pulmonary valve dysplasiaCardiovascular|Rhabdomyoma(s) - cardiacCardiovascular|Right aortic archCardiovascular|Right atrial isomerism (heterotaxy)Cardiovascular|Scimitar syndromeCardiovascular|Shone's syndromeCardiovascular|Single outlet ventricleCardiovascular|Single ventricle (univentricular heart)Cardiovascular|Single ventricle / univentricular connectionCardiovascular|Situs inversus - cardiacCardiovascular|Subaortic stenosisCardiovascular|Supra ventricular tachycardia (SVT)Cardiovascular|Tachycardia (tachyarrhythmia)Cardiovascular|TAPVD (total anomalous pulmonary venous drainage)Cardiovascular|Tetralogy of Fallot (TOF)Cardiovascular|Total anomalous pulmonary venous drainage (TAPVD)Cardiovascular|Transposition of great arteries - congenitally corrected (CCTGA)Cardiovascular|Transposition of great vessels (TGA)Cardiovascular|Tricuspid atresiaCardiovascular|Tricuspid regurgitationCardiovascular|Tricuspid stenosisCardiovascular|Tricuspid valve dysplasiaCardiovascular|Truncus arteriosisCardiovascular|Vascular ringCardiovascular|Valvular AnomaliesCardiovascular|Ventricular septal defect (VSD)Cardiovascular|Ventricular tachycardiaCardiovascular|Other - cardiac malformations not classified elsewhereCardiovascular|Other heart abnormalitiesAbdominal WallAbdominal Wall|Body stalk anomaly (limb body wall complex)Abdominal Wall|Cloacal exstrophyAbdominal Wall|GastroschisisAbdominal Wall|Limb body wall complex (body stalk anomaly)Abdominal Wall|Omphalocele (exomphalos)Abdominal Wall|Pentalogy of CantrellAbdominal Wall|Umbilical herniaAbdominal Wall|Other - congenital malformations of abdominal wallGastrointestinalGastrointestinal|Abnormal EsophagusGastrointestinal|Abnormal GallbladderGastrointestinal|Abnormal Large BowelGastrointestinal|Abnormal LiverGastrointestinal|Abnormal Small BowelGastrointestinal|Abnormal StomachGastrointestinal|Absent gallbladderGastrointestinal|Absent stomachGastrointestinal|Adrenal cyst(s)Gastrointestinal|AscitesGastrointestinal|AspleniaGastrointestinal|Atresia and stenosis intestineGastrointestinal|Biliary atresiaGastrointestinal|Choledochal cyst(s)Gastrointestinal|Dilated gallbladderGastrointestinal|Dilated stomachGastrointestinal|Duodenal atresiaGastrointestinal|HepatomegalyGastrointestinal|Hirschsprung's diseaseGastrointestinal|HyperperistalsisGastrointestinal|Imperforate anusGastrointestinal|Intra-abdominal cyst(s)Gastrointestinal|Large bowel obstructionGastrointestinal|Liver cyst(s)Gastrointestinal|Liver noduleGastrointestinal|Meconium ileusGastrointestinal|Meconium peritonitisGastrointestinal|Mesenteric cystGastrointestinal|Oesophageal atresiaGastrointestinal|Oesophageal diverticulumGastrointestinal|Ovarian cyst(s)Gastrointestinal|Pancreatic cyst(s)Gastrointestinal|Perinatal intestinal perforationGastrointestinal|PolyspleniaGastrointestinal|Pyloric stenosisGastrointestinal|Situs inversus - abdominalGastrointestinal|Small bowel obstructionGastrointestinal|SplenomegalyGastrointestinal|Tracheo-oesophageal fistula (TEF)Gastrointestinal|Other - malformations of the gastro-intestinal tractGenitourinary TractGenitourinary Tract|Ambiguous genitalia / indeterminate sexGenitourinary Tract|Autosomal dominant polycystic kidney disease (ADPKD)Genitourinary Tract|Autosomal recessive polycystic kidney disease (ARPKD)Genitourinary Tract|Bladder abnormalitiesGenitourinary Tract|Bladder diverticulumGenitourinary Tract|Bladder exstrophyGenitourinary Tract|Cloacal dysgenesisGenitourinary Tract|Cloacal exstrophyGenitourinary Tract|Cystic kidney(s) - otherGenitourinary Tract|Duplex kidney/collecting systemGenitourinary Tract|Echogenic kidney(s)Genitourinary Tract|Ectopic/pelvic kidneyGenitourinary Tract|HydrocoeleGenitourinary Tract|Hydronephrosis (>10 mm)Genitourinary Tract|Hyperplastic & giant kidney(s)Genitourinary Tract|Hypoplastic kidney(s)Genitourinary Tract|HypospadiasGenitourinary Tract|Lower urinary tract obstruction (LUTO)Genitourinary Tract|MegacystisGenitourinary Tract|MegaureterGenitourinary Tract|Multicystic kidney disease (MCKD)Genitourinary Tract|Posterior urethral valves (PUV)Genitourinary Tract|Prune bellyGenitourinary Tract|PseudohermaphroditismGenitourinary Tract|Renal AbnormalitiesGenitourinary Tract|Renal agenesisGenitourinary Tract|Renal cystGenitourinary Tract|Renal dysplasiaGenitourinary Tract|Undescended testicle(s)Genitourinary Tract|Ureter AbnormalitiesGenitourinary Tract|UreterocoeleGenitourinary Tract|Urethral atresiaGenitourinary Tract|Urethral obstruction malformation complexGenitourinary Tract|Other - malformations of female genitaliaGenitourinary Tract|Other - malformations of male genitaliaGenitourinary Tract|Other - malformations of urinary systemSpine - BackSpine - Back|Ankylosing spondylitisSpine - Back|Caudal regression syndromeSpine - Back|NTD (neural tube defect) with hydrocephalusSpine - Back|NTD (neural tube defect) without hydrocephalusSpine - Back|Sacral agenesisSpine - Back|Sacrococcygeal teratoma (SCT)Spine - Back|Other - malformations of the spineExtremities-skeletalExtremities-skeletal|AbnormalitiesExtremities-skeletal|Arms/legsExtremities-skeletal|Arms/legs-Bowed femurExtremities-skeletal|Arms/legs-Bowed humerusExtremities-skeletal|Arms/legs-Bowed radius &/or ulnaExtremities-skeletal|Arms/legs-Bowed tibia &/or fibulaExtremities-skeletal|Arms/legs-Fracture(s) - long bonesExtremities-skeletal|Generalized/otherExtremities-skeletal|Generalized/other-Akinesia deformation sequence fetal (FADS)Extremities-skeletal|Generalized/other-Arthrogryposis multiplex congenitaExtremities-skeletal|Generalized/other-Congenital malformations of spine & bony thoraxExtremities-skeletal|Generalized/other-Fixed flexion deformityExtremities-skeletal|Generalized/other-Fracture(s) - ribsExtremities-skeletal|Generalized/other-Hip Dislocation congenitalExtremities-skeletal|Generalized/other-HypomineralizationExtremities-skeletal|Generalized/other-Limb reduction defect(s) (LRD) - lower limbExtremities-skeletal|Generalized/other-Limb reduction defect(s) (LRD) - upper limbExtremities-skeletal|Generalized/other-Malformation of sternumExtremities-skeletal|Generalized/other-PhocomeliaExtremities-skeletal|Generalized/other-SirenomeliaExtremities-skeletal|Generalized/other-Skeletal dysplasia -otherExtremities-skeletal|Hands/feetExtremities-skeletal|Hands/feet-Adactyly (absent fingers/ toes)Extremities-skeletal|Hands/feet-Brachydactyly (short fingers/toes)Extremities-skeletal|Hands/feet-Clenched hands (persistently)Extremities-skeletal|Hands/feet-Clinodactyly (fifth finger)Extremities-skeletal|Hands/feet-Club footExtremities-skeletal|Hands/feet-Ectrodactyly (lobster-claw / cleft hand)Extremities-skeletal|Hands/feet-Fused toesExtremities-skeletal|Hands/feet-Overlapping fingersExtremities-skeletal|Hands/feet-Polydactyly (feet)Extremities-skeletal|Hands/feet-Polydactyly (hands)Extremities-skeletal|Hands/feet-Radial ray anomaly (absent thumb)Extremities-skeletal|Hands/feet-Rocker-bottom feetExtremities-skeletal|Hands/feet-Sandal gap toesExtremities-skeletal|Hands/feet-Syndactyly (feet)Extremities-skeletal|Hands/feet-Syndactyly (hands)Extremities-skeletal|Hands/feet-Webbed fingersExtremities-skeletal|Hands/feet-Webbed toesExtremities-skeletal|Muscle/connective tissue disordersExtremities-skeletal|Muscle/connective tissue disorders-Duchenne muscular dystrophy (DMD)Extremities-skeletal|Muscle/connective tissue disorders-Ehlers-Danlos syndromeExtremities-skeletal|Muscle/connective tissue disorders-HypotoniaExtremities-skeletal|Muscle/connective tissue disorders-Spinal muscular atrophy (SMA)Extremities-skeletal|Muscle/connective tissue disorders-Other - malformations of the musculoskeletal systemExtremities-skeletal|Skeletal DysplasiasExtremities-skeletal|Skeletal Dysplasias-AchondrogenesisExtremities-skeletal|Skeletal Dysplasias-AchondroplasiaExtremities-skeletal|Skeletal Dysplasias-Campomelic dysplasiaExtremities-skeletal|Skeletal Dysplasias-Chondrodysplasia punctataExtremities-skeletal|Skeletal Dysplasias-Diastrophic dysplasiaExtremities-skeletal|Skeletal Dysplasias-Ellis-van Creveld syndromeExtremities-skeletal|Skeletal Dysplasias-Osteogenesis imperfectaExtremities-skeletal|Skeletal Dysplasias-Short rib polydactyly syndrome - type VIIExtremities-skeletal|Skeletal Dysplasias-Thanatophoric dysplasiaStructural-otherStructural-other|Amniotic BandsStructural-other|Failure to thriveStructural-other|Normal - no anomaly detectedStructural-other|Other - malformations not classified elsewhereChromosomesChromosomes|45,X (Turner syndrome)Chromosomes|47,XXXChromosomes|47,XXY (Klinefelter syndrome)Chromosomes|47,XYYChromosomes|Array CGH abnormal or otherChromosomes|Balanced translocationChromosomes|Deletion - otherChromosomes|Di George Syndrome (22 q11 deletion)Chromosomes|Microdeletion syndrome - otherChromosomes|MosaicismChromosomes|Normal female 46,XXChromosomes|Normal male 46,XYChromosomes|Paracentric inversionChromosomes|Pericentric inversionChromosomes|Triploidy /polploidyChromosomes|Trisomy - otherChromosomes|Trisomy 13Chromosomes|Trisomy 18Chromosomes|Trisomy 21 (Down syndrome)Chromosomes|Trisomy 21 (Down syndrome) - mosaicChromosomes|Trisomy 21 (Down syndrome) - translocationChromosomes|Unbalanced translocationChromosomes|OtherCongenital InfectionsCongenital Infections|CMV (cytomegalovirus) infection - congenitalCongenital Infections|Enterovirus infectionsCongenital Infections|Herpes simplex virus (HSV) infection - congenitalCongenital Infections|HIVCongenital Infections|Rubella syndrome - congenitalCongenital Infections|ToxoplasmosisCongenital Infections|Tuberculosis (TB) - congenitalCongenital Infections|Varicella-zoster virusCongenital Infections|Other - infectionsTeratogenic ExposuresTeratogenic Exposures|Diabetic EmbryopathyTeratogenic Exposures|Etretinate embryopathyTeratogenic Exposures|Fetal alcohol syndromeTeratogenic Exposures|Fetal aminopterin/methotrexate syndromeTeratogenic Exposures|Fetal hydantoin syndromeTeratogenic Exposures|Fetal valproate syndromeTeratogenic Exposures|Isotretinoin teratogen syndromeTeratogenic Exposures|Maternal PhenylketonuriaTeratogenic Exposures|Retinoic acid embryopathyTeratogenic Exposures|Rhesus DiseaseTeratogenic Exposures|Thalidomide embryopathyTeratogenic Exposures|Toluene embryopathyTeratogenic Exposures|Vitamin A teratogenicityTeratogenic Exposures|Warfarin dysmorphismTeratogenic Exposures|Other -teratogenic embryopathyTeratogenic Exposures|Other-antiepileptic embryopathyTwinsTwins|Acardiac twinTwins|Conjoined twinsTwins|Dichorionic (DC) twinsTwins|Discordant DC twin growthTwins|Discordant MC twin growthTwins|Discordant twin anomalyTwins|Mono-amniotic (MA) twinsTwins|Monochorionic diamniotic (MC/DA) twinsTwins|Twin-twin transfusion syndrome (TTTS)Twins|Other - malformations of twinsNoneSyndromesSyndromes|Aarskogs SyndromeSyndromes|AchondrogenesisSyndromes|AchondroplasiaSyndromes|Acroesomelic DysplasiaSyndromes|Acrofacial DysostosisSyndromes|Adrenal HyperplasiaSyndromes|Alpha-1-AntitrypsinSyndromes|Alports SyndromeSyndromes|Amyloplasia CongenitaSyndromes|Angelmans SyndromeSyndromes|AnophthalmiaSyndromes|Aqueductal stenosis - X linked (L1 syndrome)Syndromes|Arthrogryposis Multiplex CongenitiaSyndromes|Ataxia-telangiectasisSyndromes|Autosomal dominant polycystic kidney diseaseSyndromes|Autosomal Recessive Polycystic Kidney DiseaseSyndromes|Beckwith-WiedemannSyndromes|Biotinidase deficiency (BIOT)Syndromes|CADASILSyndromes|CAH (Congenital Adrenal Hyperplasia)Syndromes|Camptomelic dysplaiaSyndromes|Carnitine uptake defect (CUD)Syndromes|Caudal regression syndromeSyndromes|Cerebral PalsySyndromes|Charcot-Marie-ToothSyndromes|CHARGE associationSyndromes|Chronrodysplasia PunctataSyndromes|Cleidocranial DysplasiaSyndromes|Coffin-Lowry syndromeSyndromes|Congenital hypothyroidism (HYPOTH)Syndromes|Congenital Myotonic DystrophySyndromes|Congenital Nephrotic SyndromeSyndromes|Cornelia DelangeSyndromes|CPS (Carbamyl Phosphate Deficiency)Syndromes|Craniosynotsis Saethre-CrouzonSyndromes|Cri-du-Chat SyndromeSyndromes|Crouzon's syndromeSyndromes|CryptophthalmusSyndromes|Cystic FibrosisSyndromes|Dandy-walker syndromeSyndromes|DextrocardiaSyndromes|Diastrophic dysplasiaSyndromes|Digeorge SyndromeSyndromes|Dysautonomia - familialSyndromes|Ectodermal DysplasiaSyndromes|Ehlers-Danlos syndromeSyndromes|Ellis Van Creveld SyndromeSyndromes|Epidermolysis BullosaSyndromes|F-HYPDRR Familial hypophosphatemiaSyndromes|Fabry's DiseaseSyndromes|Factor VSyndromes|Fanconi AnemiaSyndromes|Fragile X SyndromeSyndromes|Fraser Syndrome - cryptophthalmos syndromeSyndromes|Freeman-Sheldon SyndromeSyndromes|Friederichs AtaxiaSyndromes|Frontonasal dysplasiaSyndromes|FSHD (Fascioscapulohumeral Muscular Dystrophy)Syndromes|Galactosemia (GALT)Syndromes|GaucherSyndromes|Gilbert's diseaseSyndromes|Glucose-6-phosphate dehydrogenase (G6PD)Syndromes|Glutaric acidemia type I (GA I)Syndromes|Goldenhar SyndromeSyndromes|Gorlin SyndromeSyndromes|GSD (Glycogen Storage Disease)Syndromes|Hard +/- e syndromeSyndromes|Harlequin IcthyosisSyndromes|Hemi-hypertrophySyndromes|Hemophilia A/ BSyndromes|Hereditary nephritisSyndromes|HHT (Hereditary Hemorrhagic Telangiectasia)Syndromes|HME (Hereditary Multiple Exostoses)Syndromes|Holt-OramSyndromes|HomocystinosisSyndromes|Homocystinuria (HCY)Syndromes|Hunters SundromeSyndromes|Hurlers SyndromeSyndromes|Hydrochephalus X-LinkedSyndromes|HydrolethalusSyndromes|HypochondroplasiaSyndromes|HypoglycemiaSyndromes|HypophosphatasiaSyndromes|Ichthyosis (non X-linked)Syndromes|Ichthyosis X-linked (STS deficiency)Syndromes|Idiopathic hypoparathyroidismSyndromes|Incontinentia PigmentiSyndromes|Isovaleric academia (IVA)Syndromes|Ivemark SyndromeSyndromes|Jourbert SyndromeSyndromes|Klippel-Trenaunay SyndromeSyndromes|KrabbeSyndromes|Larsen SyndromeSyndromes|LCHADSyndromes|Leigh's SyndromeSyndromes|Lesch NyhanSyndromes|Limb girdle dystrophySyndromes|Limb-Girdle Muscular DystrophySyndromes|Long Q-T SyndromeSyndromes|Lysosmal Storage Disease (IEM)Syndromes|Machado-Joseph DiseaseSyndromes|Maple syrup urine disease (MSUD)Syndromes|Marfan syndromeSyndromes|McKusic-Koffman SyndromeSyndromes|Meckel-Gruber syndromeSyndromes|Medium chain acyl-CoA dehydrogenase deficiency (MCAD)Syndromes|MELASSyndromes|MenkesSyndromes|MERFFSyndromes|Metachromatic LeukodystrophySyndromes|Methylenetetrahydrofolate Reductase DeficiencySyndromes|Methylmalonic AcidemiaSyndromes|Methylmalonic acidemia (Cbl AB)Syndromes|Methylmalonic acidemia (mutase deficiency) (MUT)Syndromes|Miller-Dieker SyndromeSyndromes|Morquio SyndromeSyndromes|MPS (Mucopolysaccharidosis)Syndromes|Multiple carboxylase deficiency (MCD)Syndromes|Multiple Congenital Anomalies (Unknown Origin)Syndromes|Multiple pterygium syndromeSyndromes|Myotonic DystrophySyndromes|Nail-Patella SyndromeSyndromes|Neurofibromatosis 1Syndromes|Neurofibromatosis 2Syndromes|Nieman-PickSyndromes|Noonan SyndromeSyndromes|OculodentiodiGastrointestinalal SyndromeSyndromes|Opitz SyndromeSyndromes|Oromandibular Limb HypogenesisSyndromes|Osteogenesis ImperfectaSyndromes|OTC DeficiencySyndromes|OtosclerosisSyndromes|Pallister-Hall SyndromeSyndromes|Pelizaeus-merzbacher-like diseaseSyndromes|Peters' anomaly (brachymesomelia)Syndromes|Peutz-Jeghers SyndromeSyndromes|Pfeiffer SyndromeSyndromes|Pick's DiseaseSyndromes|Pierre RobinSyndromes|PKUSyndromes|Poland Sequence SyndromeSyndromes|Pompe's diseaseSyndromes|PorphyriaSyndromes|Potter's SyndromeSyndromes|Prader WilliSyndromes|ProgeriaSyndromes|Progressive Spinobulbar muscular atrophySyndromes|Propionic acidemia (PROP)Syndromes|Protein C deficiencySyndromes|Proteus SyndromeSyndromes|Prune belly syndromeSyndromes|Pyruvate Carboxylase DeficiencySyndromes|Pyruvate Dehydrogenase DeficiencySyndromes|Renal AdysplasiaSyndromes|Restrictive DermopathySyndromes|Retinis PigmentosaSyndromes|RetinoblastomaSyndromes|Rubenstein-Taybi SyndromeSyndromes|Russell-Silver SyndromeSyndromes|Short rib polydactyly syndrome - type VIISyndromes|Short-rib-Polydactyly SyndromeSyndromes|SialidosisSyndromes|Sickle Cell AnemiaSyndromes|Situs AmbiguousSyndromes|Sjogren syndromeSyndromes|Smith-Lemli-OpitzSyndromes|Smith-Magenis SyndromeSyndromes|Sotos SyndromeSyndromes|Spinal Muscular AtrophySyndromes|Stickler SyndromeSyndromes|Sturge-Weber SyndromeSyndromes|Syndrome not otherwise specifiedSyndromes|TAR (thrombocytopenia-absent radius) syndromeSyndromes|Tay-Sachs - gm2-gangliosidosis type 1Syndromes|Thalassaemia-alphaSyndromes|Thalassemia-betaSyndromes|Thanantrophic dysplasisSyndromes|Treacher Collins syndromeSyndromes|Tuberous SclerosisSyndromes|Tumours (Sacrococcygeal Teratoma Paragangliomata)Syndromes|Tyrosinemia type I (TYR I)Syndromes|VATER syndromeSyndromes|Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Syndromes|Von Willibrand DiseaseSyndromes|Waardenberg SyndromeSyndromes|Walker-Warburg SyndromeSyndromes|Williams syndrome (idiopathic hypercalcaemia)Syndromes|Wilson DiseaseSyndromes|Wolf-hirschhorn syndromeSyndromes|Xeroderma PigmentosumSyndromes|Zellweger (cerebro-hepato-renal) syndrome
D0022-1 Fetal Anomalies Identified Indication whether there were suspected or confirmed fetal anomalies int
View ListNoneSuspected or Confirmed
D0023 Fetal Anomalies Confirmed Identifies congenital anomalies that were confirmed prenatally int
View ListHead-Cranium & BrainHead-Cranium & Brain|Absent cerebellar vermisHead-Cranium & Brain|Absent cerebellumHead-Cranium & Brain|AcraniaHead-Cranium & Brain|Agenesis of corpus callosum (ACC)Head-Cranium & Brain|AnencephalyHead-Cranium & Brain|Aqueductal stenosisHead-Cranium & Brain|Arachnoid cyst(s)Head-Cranium & Brain|ArhinencephalyHead-Cranium & Brain|Arnold Chiari malformationHead-Cranium & Brain|Atresia of foramina of Magendie & LuschkaHead-Cranium & Brain|Banana cerebellumHead-Cranium & Brain|BrachycephalyHead-Cranium & Brain|Brain tumorHead-Cranium & Brain|Calcification - intracranialHead-Cranium & Brain|Cerebellar & posterior fossa haemorrhageHead-Cranium & Brain|Cerebral AVM (arteriovenous malformation)Head-Cranium & Brain|Cloverleaf shaped headHead-Cranium & Brain|Congenital cerebral cystsHead-Cranium & Brain|CraniorachischisisHead-Cranium & Brain|CraniosynostosisHead-Cranium & Brain|Dandy-Walker malformation / variant (DWM)Head-Cranium & Brain|DolichocephalyHead-Cranium & Brain|EncephaloceleHead-Cranium & Brain|Enlarged cisterna magnaHead-Cranium & Brain|ExencephalyHead-Cranium & Brain|ExencephalyHead-Cranium & Brain|HoloprosencephalyHead-Cranium & Brain|HydranencephalyHead-Cranium & Brain|HydrocephalusHead-Cranium & Brain|IniencephalyHead-Cranium & Brain|Intracerebral haemorrhageHead-Cranium & Brain|Intraventricular haemorrhage (IVH)Head-Cranium & Brain|LissenchephalyHead-Cranium & Brain|MacrocephalyHead-Cranium & Brain|MegalencephalyHead-Cranium & Brain|MicrocephalyHead-Cranium & Brain|PlagiocephalyHead-Cranium & Brain|Porencephalic cyst(s)Head-Cranium & Brain|Posterior fossa cystHead-Cranium & Brain|Prominent foreheadHead-Cranium & Brain|Prominent occiputHead-Cranium & Brain|SeizuresHead-Cranium & Brain|Septo-optic dysplasiaHead-Cranium & Brain|Small cerebellumHead-Cranium & Brain|Subarachnoid haemorrhageHead-Cranium & Brain|Vein of Galen aneurysmHead-Cranium & Brain|Ventriculomegaly - mild (10-15 mm)Head-Cranium & Brain|Ventriculomegaly - severe (>15 mm)Head-Cranium & Brain|Other - malformations of the head & BrainFaceFace|EARSFace|EARS-Ears - absent (anotia)Face|EARS-Ears - low setFace|EARS-Ears - small (microtia)Face|EYESFace|EYES-AnophthalmiaFace|EYES-Congenital cataractFace|EYES-CyclopsFace|EYES-HypertelorismFace|EYES-HypotelorismFace|EYES-MacrophthalmiaFace|EYES-MicrophthalmiaFace|EYES-RetinoblastomaFace|AbnormalitiesFace|MOUTHFace|MOUTH-Cleft lipFace|MOUTH-Cleft lip & palateFace|MOUTH-Cleft palateFace|MOUTH-Flat faceFace|MOUTH-MacroglossiaFace|MOUTH-MicrognathiaFace|MOUTH-RetrognathiaFace|NOSEFace|NOSE-Absent noseFace|NOSE-Choanal atresiaFace|NOSE-Hypoplastic noseFace|NOSE-ProboscisFace|NOSE-Single nostrilFace|Tumour of faceFace|Tumour of face OtherFace|Other - malformations of the faceNeckNeck|Cervical teratomaNeck|Cystic hygromaNeck|Neck tumour - otherNeck|Other - malformations of the neckThoraxThorax|Agenesis of lungThorax|Bronchopulmonary sequestration (BPS)Thorax|Chest wall deformityThorax|Congenital cystic adenomatoid malformation of lung (CCAML)Thorax|Congenital high airway obstruction (CHAOS)Thorax|Diaphragmatic hernia Congenital (CDH)Thorax|Echogenic lung(s)Thorax|Eventration of diaphragmThorax|Lung cysts-otherThorax|Pectus carinatumThorax|Pectus excavatumThorax|Pleural effusion(s) (hydrothorax)Thorax|Pulmonary hypoplasiaThorax|Other - congenital malformations of lungThorax|Other congenital malformations of diaphragmCardiovascularCardiovascular|Aorta - pulmonary windowCardiovascular|Aortic arch - doubleCardiovascular|Aortic arch - interruptedCardiovascular|Aortic atresiaCardiovascular|Aortic valve insufficiencyCardiovascular|Aortic valve stenosisCardiovascular|ArrhythmiaCardiovascular|Atrial fibrillationCardiovascular|Atrial septal defect (ASD)Cardiovascular|Atrioventricular septal defect (AVSD) (endocardial cushion defect)Cardiovascular|Bilateral SVC (superior vena cava)Cardiovascular|Bradycardia (bradyarrhythmia)Cardiovascular|Cardiac dysfunctionCardiovascular|Cardiac tumour / massCardiovascular|CardiomegalyCardiovascular|Cardiomyopathy - dilatedCardiovascular|Cardiomyopathy - fetus of diabetic motherCardiovascular|Cardiomyopathy - hypertrophic (HOCM)Cardiovascular|Coarctation of aortaCardiovascular|Common atriumCardiovascular|Complete Heart BlockCardiovascular|Incomplete Congenital heart block (CHB)Cardiovascular|Congenital heart diseaseCardiovascular|Coronary artery fistulaCardiovascular|DextrocardiaCardiovascular|Dilated ascending aortaCardiovascular|Diverticulum - LVCardiovascular|Diverticulum - RVCardiovascular|Double inlet ventricle (DIV)Cardiovascular|Double outlet ventricle (DOV)Cardiovascular|Ductus arteriosus - premature closureCardiovascular|Ductus arteriosus aneurysmCardiovascular|Ductus venosus - agenesisCardiovascular|Ebstein anomalyCardiovascular|Ectopia cordisCardiovascular|Endocardial fibroelastosis (EFE)Cardiovascular|Fibroma - cardiacCardiovascular|Hypoplastic aortic archCardiovascular|Hypoplastic left heart syndrome (HLHS)Cardiovascular|Hypoplastic right heart syndrome (HRHS)Cardiovascular|Interrupted IVC (superior vena cava)Cardiovascular|Left atrial isomerism (heterotaxy)Cardiovascular|Mitral regurgitationCardiovascular|Mitral stenosisCardiovascular|Mitral valve dysplasiaCardiovascular|Partial anomalous pulmonary venous drainage (PAPVD)Cardiovascular|Pericardial/Paracardial cystCardiovascular|Pericardial effusionCardiovascular|Premature atrial contractions (PAC's)Cardiovascular|Premature closure of atrial septum (PFO)Cardiovascular|Premature ventricular contractions (PVC's)Cardiovascular|Pulmonary (valve) atresiaCardiovascular|Pulmonary (valve) stenosis (PS)Cardiovascular|Pulmonary insufficiencyCardiovascular|Pulmonary valve dysplasiaCardiovascular|Rhabdomyoma(s) - cardiacCardiovascular|Right aortic archCardiovascular|Right atrial isomerism (heterotaxy)Cardiovascular|Scimitar syndromeCardiovascular|Shone's syndromeCardiovascular|Single outlet ventricleCardiovascular|Single ventricle (univentricular heart)Cardiovascular|Single ventricle / univentricular connectionCardiovascular|Situs inversus - cardiacCardiovascular|Subaortic stenosisCardiovascular|Supra ventricular tachycardia (SVT)Cardiovascular|Tachycardia (tachyarrhythmia)Cardiovascular|TAPVD (total anomalous pulmonary venous drainage)Cardiovascular|Tetralogy of Fallot (TOF)Cardiovascular|Total anomalous pulmonary venous drainage (TAPVD)Cardiovascular|Transposition of great arteries - congenitally corrected (CCTGA)Cardiovascular|Transposition of great vessels (TGA)Cardiovascular|Tricuspid atresiaCardiovascular|Tricuspid regurgitationCardiovascular|Tricuspid stenosisCardiovascular|Tricuspid valve dysplasiaCardiovascular|Truncus arteriosisCardiovascular|Vascular ringCardiovascular|Valvular AnomaliesCardiovascular|Ventricular septal defect (VSD)Cardiovascular|Ventricular tachycardiaCardiovascular|Other - cardiac malformations not classified elsewhereCardiovascular|Other heart abnormalitiesAbdominal WallAbdominal Wall|Body stalk anomaly (limb body wall complex)Abdominal Wall|Cloacal exstrophyAbdominal Wall|GastroschisisAbdominal Wall|Limb body wall complex (body stalk anomaly)Abdominal Wall|Omphalocele (exomphalos)Abdominal Wall|Pentalogy of CantrellAbdominal Wall|Umbilical herniaAbdominal Wall|Other - congenital malformations of abdominal wallGastrointestinalGastrointestinal|Abnormal EsophagusGastrointestinal|Abnormal GallbladderGastrointestinal|Abnormal Large BowelGastrointestinal|Abnormal LiverGastrointestinal|Abnormal Small BowelGastrointestinal|Abnormal StomachGastrointestinal|Absent gallbladderGastrointestinal|Absent stomachGastrointestinal|Adrenal cyst(s)Gastrointestinal|AscitesGastrointestinal|AspleniaGastrointestinal|Atresia and stenosis intestineGastrointestinal|Biliary atresiaGastrointestinal|Choledochal cyst(s)Gastrointestinal|Dilated gallbladderGastrointestinal|Dilated stomachGastrointestinal|Duodenal atresiaGastrointestinal|HepatomegalyGastrointestinal|Hirschsprung's diseaseGastrointestinal|HyperperistalsisGastrointestinal|Imperforate anusGastrointestinal|Intra-abdominal cyst(s)Gastrointestinal|Large bowel obstructionGastrointestinal|Liver cyst(s)Gastrointestinal|Liver noduleGastrointestinal|Meconium ileusGastrointestinal|Meconium peritonitisGastrointestinal|Mesenteric cystGastrointestinal|Oesophageal atresiaGastrointestinal|Oesophageal diverticulumGastrointestinal|Ovarian cyst(s)Gastrointestinal|Pancreatic cyst(s)Gastrointestinal|Perinatal intestinal perforationGastrointestinal|PolyspleniaGastrointestinal|Pyloric stenosisGastrointestinal|Situs inversus - abdominalGastrointestinal|Small bowel obstructionGastrointestinal|SplenomegalyGastrointestinal|Tracheo-oesophageal fistula (TEF)Gastrointestinal|Other - malformations of the gastro-intestinal tractGenitourinary TractGenitourinary Tract|Ambiguous genitalia / indeterminate sexGenitourinary Tract|Autosomal dominant polycystic kidney disease (ADPKD)Genitourinary Tract|Autosomal recessive polycystic kidney disease (ARPKD)Genitourinary Tract|Bladder abnormalitiesGenitourinary Tract|Bladder diverticulumGenitourinary Tract|Bladder exstrophyGenitourinary Tract|Cloacal dysgenesisGenitourinary Tract|Cloacal exstrophyGenitourinary Tract|Cystic kidney(s) - otherGenitourinary Tract|Duplex kidney/collecting systemGenitourinary Tract|Echogenic kidney(s)Genitourinary Tract|Ectopic/pelvic kidneyGenitourinary Tract|HydrocoeleGenitourinary Tract|Hydronephrosis (>10 mm)Genitourinary Tract|Hyperplastic & giant kidney(s)Genitourinary Tract|Hypoplastic kidney(s)Genitourinary Tract|HypospadiasGenitourinary Tract|Lower urinary tract obstruction (LUTO)Genitourinary Tract|MegacystisGenitourinary Tract|MegaureterGenitourinary Tract|Multicystic kidney disease (MCKD)Genitourinary Tract|Posterior urethral valves (PUV)Genitourinary Tract|Prune bellyGenitourinary Tract|PseudohermaphroditismGenitourinary Tract|Renal AbnormalitiesGenitourinary Tract|Renal agenesisGenitourinary Tract|Renal cystGenitourinary Tract|Renal dysplasiaGenitourinary Tract|Undescended testicle(s)Genitourinary Tract|Ureter AbnormalitiesGenitourinary Tract|UreterocoeleGenitourinary Tract|Urethral atresiaGenitourinary Tract|Urethral obstruction malformation complexGenitourinary Tract|Other - malformations of female genitaliaGenitourinary Tract|Other - malformations of male genitaliaGenitourinary Tract|Other - malformations of urinary systemSpine - BackSpine - Back|Ankylosing spondylitisSpine - Back|Caudal regression syndromeSpine - Back|NTD (neural tube defect) with hydrocephalusSpine - Back|NTD (neural tube defect) without hydrocephalusSpine - Back|Sacral agenesisSpine - Back|Sacrococcygeal teratoma (SCT)Spine - Back|Other - malformations of the spineExtremities-skeletalExtremities-skeletal|AbnormalitiesExtremities-skeletal|Arms/legsExtremities-skeletal|Arms/legs-Bowed femurExtremities-skeletal|Arms/legs-Bowed humerusExtremities-skeletal|Arms/legs-Bowed radius &/or ulnaExtremities-skeletal|Arms/legs-Bowed tibia &/or fibulaExtremities-skeletal|Arms/legs-Fracture(s) - long bonesExtremities-skeletal|Generalized/otherExtremities-skeletal|Generalized/other-Akinesia deformation sequence fetal (FADS)Extremities-skeletal|Generalized/other-Arthrogryposis multiplex congenitaExtremities-skeletal|Generalized/other-Congenital malformations of spine & bony thoraxExtremities-skeletal|Generalized/other-Fixed flexion deformityExtremities-skeletal|Generalized/other-Fracture(s) - ribsExtremities-skeletal|Generalized/other-Hip Dislocation congenitalExtremities-skeletal|Generalized/other-HypomineralizationExtremities-skeletal|Generalized/other-Limb reduction defect(s) (LRD) - lower limbExtremities-skeletal|Generalized/other-Limb reduction defect(s) (LRD) - upper limbExtremities-skeletal|Generalized/other-Malformation of sternumExtremities-skeletal|Generalized/other-PhocomeliaExtremities-skeletal|Generalized/other-SirenomeliaExtremities-skeletal|Generalized/other-Skeletal dysplasia -otherExtremities-skeletal|Hands/feetExtremities-skeletal|Hands/feet-Adactyly (absent fingers/ toes)Extremities-skeletal|Hands/feet-Brachydactyly (short fingers/toes)Extremities-skeletal|Hands/feet-Clenched hands (persistently)Extremities-skeletal|Hands/feet-Clinodactyly (fifth finger)Extremities-skeletal|Hands/feet-Club footExtremities-skeletal|Hands/feet-Ectrodactyly (lobster-claw / cleft hand)Extremities-skeletal|Hands/feet-Fused toesExtremities-skeletal|Hands/feet-Overlapping fingersExtremities-skeletal|Hands/feet-Polydactyly (feet)Extremities-skeletal|Hands/feet-Polydactyly (hands)Extremities-skeletal|Hands/feet-Radial ray anomaly (absent thumb)Extremities-skeletal|Hands/feet-Rocker-bottom feetExtremities-skeletal|Hands/feet-Sandal gap toesExtremities-skeletal|Hands/feet-Syndactyly (feet)Extremities-skeletal|Hands/feet-Syndactyly (hands)Extremities-skeletal|Hands/feet-Webbed fingersExtremities-skeletal|Hands/feet-Webbed toesExtremities-skeletal|Muscle/connective tissue disordersExtremities-skeletal|Muscle/connective tissue disorders-Duchenne muscular dystrophy (DMD)Extremities-skeletal|Muscle/connective tissue disorders-Ehlers-Danlos syndromeExtremities-skeletal|Muscle/connective tissue disorders-HypotoniaExtremities-skeletal|Muscle/connective tissue disorders-Spinal muscular atrophy (SMA)Extremities-skeletal|Muscle/connective tissue disorders-Other - malformations of the musculoskeletal systemExtremities-skeletal|Skeletal DysplasiasExtremities-skeletal|Skeletal Dysplasias-AchondrogenesisExtremities-skeletal|Skeletal Dysplasias-AchondroplasiaExtremities-skeletal|Skeletal Dysplasias-Campomelic dysplasiaExtremities-skeletal|Skeletal Dysplasias-Chondrodysplasia punctataExtremities-skeletal|Skeletal Dysplasias-Diastrophic dysplasiaExtremities-skeletal|Skeletal Dysplasias-Ellis-van Creveld syndromeExtremities-skeletal|Skeletal Dysplasias-Osteogenesis imperfectaExtremities-skeletal|Skeletal Dysplasias-Short rib polydactyly syndrome - type VIIExtremities-skeletal|Skeletal Dysplasias-Thanatophoric dysplasiaStructural-otherStructural-other|Amniotic BandsStructural-other|Failure to thriveStructural-other|Normal - no anomaly detectedStructural-other|Other - malformations not classified elsewhereChromosomesChromosomes|45,X (Turner syndrome)Chromosomes|47,XXXChromosomes|47,XXY (Klinefelter syndrome)Chromosomes|47,XYYChromosomes|Array CGH abnormal or otherChromosomes|Balanced translocationChromosomes|Deletion - otherChromosomes|Di George Syndrome (22 q11 deletion)Chromosomes|Microdeletion syndrome - otherChromosomes|MosaicismChromosomes|Normal female 46,XXChromosomes|Normal male 46,XYChromosomes|Paracentric inversionChromosomes|Pericentric inversionChromosomes|Triploidy /polploidyChromosomes|Trisomy - otherChromosomes|Trisomy 13Chromosomes|Trisomy 18Chromosomes|Trisomy 21 (Down syndrome)Chromosomes|Trisomy 21 (Down syndrome) - mosaicChromosomes|Trisomy 21 (Down syndrome) - translocationChromosomes|Unbalanced translocationChromosomes|OtherCongenital InfectionsCongenital Infections|CMV (cytomegalovirus) infection - congenitalCongenital Infections|Enterovirus infectionsCongenital Infections|Herpes simplex virus (HSV) infection - congenitalCongenital Infections|HIVCongenital Infections|Rubella syndrome - congenitalCongenital Infections|ToxoplasmosisCongenital Infections|Tuberculosis (TB) - congenitalCongenital Infections|Varicella-zoster virusCongenital Infections|Other - infectionsTeratogenic ExposuresTeratogenic Exposures|Diabetic EmbryopathyTeratogenic Exposures|Etretinate embryopathyTeratogenic Exposures|Fetal alcohol syndromeTeratogenic Exposures|Fetal aminopterin/methotrexate syndromeTeratogenic Exposures|Fetal hydantoin syndromeTeratogenic Exposures|Fetal valproate syndromeTeratogenic Exposures|Isotretinoin teratogen syndromeTeratogenic Exposures|Maternal PhenylketonuriaTeratogenic Exposures|Retinoic acid embryopathyTeratogenic Exposures|Rhesus DiseaseTeratogenic Exposures|Thalidomide embryopathyTeratogenic Exposures|Toluene embryopathyTeratogenic Exposures|Vitamin A teratogenicityTeratogenic Exposures|Warfarin dysmorphismTeratogenic Exposures|Other -teratogenic embryopathyTeratogenic Exposures|Other-antiepileptic embryopathyTwinsTwins|Acardiac twinTwins|Conjoined twinsTwins|Dichorionic (DC) twinsTwins|Discordant DC twin growthTwins|Discordant MC twin growthTwins|Discordant twin anomalyTwins|Mono-amniotic (MA) twinsTwins|Monochorionic diamniotic (MC/DA) twinsTwins|Twin-twin transfusion syndrome (TTTS)Twins|Other - malformations of twinsNoneSyndromesSyndromes|Aarskogs SyndromeSyndromes|AchondrogenesisSyndromes|AchondroplasiaSyndromes|Acroesomelic DysplasiaSyndromes|Acrofacial DysostosisSyndromes|Adrenal HyperplasiaSyndromes|Alpha-1-AntitrypsinSyndromes|Alports SyndromeSyndromes|Amyloplasia CongenitaSyndromes|Angelmans SyndromeSyndromes|AnophthalmiaSyndromes|Aqueductal stenosis - X linked (L1 syndrome)Syndromes|Arthrogryposis Multiplex CongenitiaSyndromes|Ataxia-telangiectasisSyndromes|Autosomal dominant polycystic kidney diseaseSyndromes|Autosomal Recessive Polycystic Kidney DiseaseSyndromes|Beckwith-WiedemannSyndromes|Biotinidase deficiency (BIOT)Syndromes|CADASILSyndromes|CAH (Congenital Adrenal Hyperplasia)Syndromes|Camptomelic dysplaiaSyndromes|Carnitine uptake defect (CUD)Syndromes|Caudal regression syndromeSyndromes|Cerebral PalsySyndromes|Charcot-Marie-ToothSyndromes|CHARGE associationSyndromes|Chronrodysplasia PunctataSyndromes|Cleidocranial DysplasiaSyndromes|Coffin-Lowry syndromeSyndromes|Congenital hypothyroidism (HYPOTH)Syndromes|Congenital Myotonic DystrophySyndromes|Congenital Nephrotic SyndromeSyndromes|Cornelia DelangeSyndromes|CPS (Carbamyl Phosphate Deficiency)Syndromes|Craniosynotsis Saethre-CrouzonSyndromes|Cri-du-Chat SyndromeSyndromes|Crouzon's syndromeSyndromes|CryptophthalmusSyndromes|Cystic FibrosisSyndromes|Dandy-walker syndromeSyndromes|DextrocardiaSyndromes|Diastrophic dysplasiaSyndromes|Digeorge SyndromeSyndromes|Dysautonomia - familialSyndromes|Ectodermal DysplasiaSyndromes|Ehlers-Danlos syndromeSyndromes|Ellis Van Creveld SyndromeSyndromes|Epidermolysis BullosaSyndromes|F-HYPDRR Familial hypophosphatemiaSyndromes|Fabry's DiseaseSyndromes|Factor VSyndromes|Fanconi AnemiaSyndromes|Fragile X SyndromeSyndromes|Fraser Syndrome - cryptophthalmos syndromeSyndromes|Freeman-Sheldon SyndromeSyndromes|Friederichs AtaxiaSyndromes|Frontonasal dysplasiaSyndromes|FSHD (Fascioscapulohumeral Muscular Dystrophy)Syndromes|Galactosemia (GALT)Syndromes|GaucherSyndromes|Gilbert's diseaseSyndromes|Glucose-6-phosphate dehydrogenase (G6PD)Syndromes|Glutaric acidemia type I (GA I)Syndromes|Goldenhar SyndromeSyndromes|Gorlin SyndromeSyndromes|GSD (Glycogen Storage Disease)Syndromes|Hard +/- e syndromeSyndromes|Harlequin IcthyosisSyndromes|Hemi-hypertrophySyndromes|Hemophilia A/ BSyndromes|Hereditary nephritisSyndromes|HHT (Hereditary Hemorrhagic Telangiectasia)Syndromes|HME (Hereditary Multiple Exostoses)Syndromes|Holt-OramSyndromes|HomocystinosisSyndromes|Homocystinuria (HCY)Syndromes|Hunters SundromeSyndromes|Hurlers SyndromeSyndromes|Hydrochephalus X-LinkedSyndromes|HydrolethalusSyndromes|HypochondroplasiaSyndromes|HypoglycemiaSyndromes|HypophosphatasiaSyndromes|Ichthyosis (non X-linked)Syndromes|Ichthyosis X-linked (STS deficiency)Syndromes|Idiopathic hypoparathyroidismSyndromes|Incontinentia PigmentiSyndromes|Isovaleric academia (IVA)Syndromes|Ivemark SyndromeSyndromes|Jourbert SyndromeSyndromes|Klippel-Trenaunay SyndromeSyndromes|KrabbeSyndromes|Larsen SyndromeSyndromes|LCHADSyndromes|Leigh's SyndromeSyndromes|Lesch NyhanSyndromes|Limb girdle dystrophySyndromes|Limb-Girdle Muscular DystrophySyndromes|Long Q-T SyndromeSyndromes|Lysosmal Storage Disease (IEM)Syndromes|Machado-Joseph DiseaseSyndromes|Maple syrup urine disease (MSUD)Syndromes|Marfan syndromeSyndromes|McKusic-Koffman SyndromeSyndromes|Meckel-Gruber syndromeSyndromes|Medium chain acyl-CoA dehydrogenase deficiency (MCAD)Syndromes|MELASSyndromes|MenkesSyndromes|MERFFSyndromes|Metachromatic LeukodystrophySyndromes|Methylenetetrahydrofolate Reductase DeficiencySyndromes|Methylmalonic AcidemiaSyndromes|Methylmalonic acidemia (Cbl AB)Syndromes|Methylmalonic acidemia (mutase deficiency) (MUT)Syndromes|Miller-Dieker SyndromeSyndromes|Morquio SyndromeSyndromes|MPS (Mucopolysaccharidosis)Syndromes|Multiple carboxylase deficiency (MCD)Syndromes|Multiple Congenital Anomalies (Unknown Origin)Syndromes|Multiple pterygium syndromeSyndromes|Myotonic DystrophySyndromes|Nail-Patella SyndromeSyndromes|Neurofibromatosis 1Syndromes|Neurofibromatosis 2Syndromes|Nieman-PickSyndromes|Noonan SyndromeSyndromes|OculodentiodiGastrointestinalal SyndromeSyndromes|Opitz SyndromeSyndromes|Oromandibular Limb HypogenesisSyndromes|Osteogenesis ImperfectaSyndromes|OTC DeficiencySyndromes|OtosclerosisSyndromes|Pallister-Hall SyndromeSyndromes|Pelizaeus-merzbacher-like diseaseSyndromes|Peters' anomaly (brachymesomelia)Syndromes|Peutz-Jeghers SyndromeSyndromes|Pfeiffer SyndromeSyndromes|Pick's DiseaseSyndromes|Pierre RobinSyndromes|PKUSyndromes|Poland Sequence SyndromeSyndromes|Pompe's diseaseSyndromes|PorphyriaSyndromes|Potter's SyndromeSyndromes|Prader WilliSyndromes|ProgeriaSyndromes|Progressive Spinobulbar muscular atrophySyndromes|Propionic acidemia (PROP)Syndromes|Protein C deficiencySyndromes|Proteus SyndromeSyndromes|Prune belly syndromeSyndromes|Pyruvate Carboxylase DeficiencySyndromes|Pyruvate Dehydrogenase DeficiencySyndromes|Renal AdysplasiaSyndromes|Restrictive DermopathySyndromes|Retinis PigmentosaSyndromes|RetinoblastomaSyndromes|Rubenstein-Taybi SyndromeSyndromes|Russell-Silver SyndromeSyndromes|Short rib polydactyly syndrome - type VIISyndromes|Short-rib-Polydactyly SyndromeSyndromes|SialidosisSyndromes|Sickle Cell AnemiaSyndromes|Situs AmbiguousSyndromes|Sjogren syndromeSyndromes|Smith-Lemli-OpitzSyndromes|Smith-Magenis SyndromeSyndromes|Sotos SyndromeSyndromes|Spinal Muscular AtrophySyndromes|Stickler SyndromeSyndromes|Sturge-Weber SyndromeSyndromes|Syndrome not otherwise specifiedSyndromes|TAR (thrombocytopenia-absent radius) syndromeSyndromes|Tay-Sachs - gm2-gangliosidosis type 1Syndromes|Thalassaemia-alphaSyndromes|Thalassemia-betaSyndromes|Thanantrophic dysplasisSyndromes|Treacher Collins syndromeSyndromes|Tuberous SclerosisSyndromes|Tumours (Sacrococcygeal Teratoma Paragangliomata)Syndromes|Tyrosinemia type I (TYR I)Syndromes|VATER syndromeSyndromes|Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)Syndromes|Von Willibrand DiseaseSyndromes|Waardenberg SyndromeSyndromes|Walker-Warburg SyndromeSyndromes|Williams syndrome (idiopathic hypercalcaemia)Syndromes|Wilson DiseaseSyndromes|Wolf-hirschhorn syndromeSyndromes|Xeroderma PigmentosumSyndromes|Zellweger (cerebro-hepato-renal) syndrome
F0001 Estimated Date of Birth (EDB) Best estimate of birth determined by ultrasound or mathematical calculation using Ngele's rule. Same as EDC and EDD. EDB is the preferred term date
FAN0019 Consanguinity Refers to maternal and paternal sharing of at least one ancestor in common. (Cunningham, 2005) char(1)
Y0209 Amended to The prenatal screening results, whether positive, negative or uninterpretable, after the screening result has been ammended as indicated by the follow up centre int
View ListNegativeStill positiveToo earlyToo lateUninterpretableNot Amended
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