Congenital Anomalies Down Syndrome 7580 7580 DOWN''S SYNDROME Q900 Q90.0 : Trisomy 21, meiotic nondisjunction 7580 7580 DOWN''S SYNDROME Q901 Q90.1 : Trisomy 21, mosaicism (mitotic nondisjunction) 7580 7580 DOWN''S SYNDROME Q902 Q90.2 : Trisomy 21, translocation 7580 7580 DOWN''S SYNDROME Q909 Q90.9 : Downs syndrome, unspecified Neural Tube Defects 7400 7400 ANENCEPHALUS Q000 Q00.0 : Anencephaly 7401 7401 CRANIORACHISCHISIS Q001 Q00.1 : Craniorachischisis 7402 7402 INIENCEPHALY Q002 Q00.2 : Iniencephaly 7420 7420 ENCEPHALOCELE Q010 Q01.0 : Frontal encephalocele 7420 7420 ENCEPHALOCELE Q011 Q01.1 : Nasofrontal encephalocele 7420 7420 ENCEPHALOCELE Q012 Q01.2 : Occipital encephalocele 7420 7420 ENCEPHALOCELE Q018 Q01.8 : Encephalocele of other sites 7420 7420 ENCEPHALOCELE Q019 Q01.9 : Encephalocele, unspecified 74101 7410 SPINA BIFIDA W HYDROCEPHALUS Q050 Q05.0 : Cervical spina bifida with hydrocephalus 74102 7410 SPINA BIFIDA W HYDROCEPHALUS Q051 Q05.1 : Thoracic spina bifida with hydrocephalus 74103 7410 SPINA BIFIDA W HYDROCEPHALUS Q052 Q05.2 : Lumbar spina bifida with hydrocephalus 74100 7410 SPINA BIFIDA W HYDROCEPHALUS Q053 Q05.3 : Sacral spina bifida with hydrocephalus 74100 7410 SPINA BIFIDA W HYDROCEPHALUS Q054 Q05.4 : Unspecified spina bifida with hydrocephalus 74191 7419 SPINA BIFIDA W/O HYDROCEPHALUS Q055 Q05.5 : Cervical spina bifida without hydrocephalus 74192 7419 SPINA BIFIDA W/O HYDROCEPHALUS Q056 Q05.6 : Thoracic spina bifida without hydrocephalus 74193 7419 SPINA BIFIDA W/O HYDROCEPHALUS Q057 Q05.7 : Lumbar spina bifida without hydrocephalus 74190 7419 SPINA BIFIDA W/O HYDROCEPHALUS Q058 Q05.8 : Sacral spina bifida without hydrocephalus 74190 7419 SPINA BIFIDA W/O HYDROCEPHALUS Q059 Q05.9 : Spina bifida, unspecified 74100 7410 SPINA BIFIDA W HYDROCEPHALUS Q070 Q07.0 : Arnold-Chiari syndrome Anencephaly and Similar Anomalies 7400 7400 ANENCEPHALUS Q000 Q00.0 : Anencephaly 7401 7401 CRANIORACHISCHISIS Q001 Q00.1 : Craniorachischisis 7402 7402 INIENCEPHALY Q002 Q00.2 : Iniencephaly 1
Spina Bifida 74101 7410 SPINA BIFIDA W HYDROCEPHALUS Q050 Q05.0 : Cervical spina bifida with hydrocephalus 74102 7410 SPINA BIFIDA W HYDROCEPHALUS Q051 Q05.1 : Thoracic spina bifida with hydrocephalus 74103 7410 SPINA BIFIDA W HYDROCEPHALUS Q052 Q05.2 : Lumbar spina bifida with hydrocephalus 74100 7410 SPINA BIFIDA W HYDROCEPHALUS Q053 Q05.3 : Sacral spina bifida with hydrocephalus 74100 7410 SPINA BIFIDA W HYDROCEPHALUS Q054 Q05.4 : Unspecified spina bifida with hydrocephalus 74191 7419 SPINA BIFIDA W/O HYDROCEPHALUS Q055 Q05.5 : Cervical spina bifida without hydrocephalus 74192 7419 SPINA BIFIDA W/O HYDROCEPHALUS Q056 Q05.6 : Thoracic spina bifida without hydrocephalus 74193 7419 SPINA BIFIDA W/O HYDROCEPHALUS Q057 Q05.7 : Lumbar spina bifida without hydrocephalus 74190 7419 SPINA BIFIDA W/O HYDROCEPHALUS Q058 Q05.8 : Sacral spina bifida without hydrocephalus 74190 7419 SPINA BIFIDA W/O HYDROCEPHALUS Q059 Q05.9 : Spina bifida, unspecified 74100 7410 SPINA BIFIDA W HYDROCEPHALUS Q070 Q07.0 : Arnold-Chiari syndrome Congenital Heart Defects 7450 7450 COMMON TRUNCUS Q200 Q20.0 : Common arterial trunk 74511 7451 TRANSPOSITION OF GREAT VESSELS Q201 Q20.1 : Double outlet right ventricle 74519 7451 TRANSPOSITION OF GREAT VESSELS Q202 Q20.2 : Double outlet left ventricle 74511 7451 TRANSPOSITION OF GREAT VESSELS Q2030 Q20.30 : Dextratransposition of aorta 74510 7451 TRANSPOSITION OF GREAT VESSELS Q2031 Q20.31 : Complete transposition of great vessels 74512 7451 TRANSPOSITION OF GREAT VESSELS Q2032 Q20.32 : Congenitally corrected transposition of great vessels 74519 7451 TRANSPOSITION OF GREAT VESSELS Q2038 Q20.38 : Other transposition of great vessels NEC 7453 7453 COMMON VENTRICLE Q204 Q20.4 : Double inlet ventricle 74512 7451 TRANSPOSITION OF GREAT VESSELS Q2050 Q20.50 : Discordant atrioventricular connection with corrected transposition 74519 7451 TRANSPOSITION OF GREAT VESSELS Q2058 Q20.58 : Discordant atrioventricular connection NEC Q206 Q20.6 : Isomerism of atrial appendages 74569 7456 ENDOCARDIAL CUSHION DEFECTS Q212 Q21.2 : Atrioventricular septal defect 7452 7452 TETRALOGY OF FALLOT Q213 Q21.3 : Tetralogy of Fallot 7450 7450 COMMON TRUNCUS Q214 Q21.4 : Aortopulmonary septal defect 7454 7454 VENTRICULAR SEPTAL DEFECT Q210 Q21.8 : Other congenital malformations of cardiac septa 74601 7460 ANOMALIES OF PULMONARY VALVE Q220 Q22.0 : Pulmonary valve atresia 74602 7460 ANOMALIES OF PULMONARY VALVE Q221 Q22.1 : Congenital pulmonary valve stenosis 7461 7461 TRICUSPD ATRESIA,STENOSIS-CONGENIT Q224 Q22.4 : Congenital tricuspid atresia 7462 7462 EBSTEIN''S ANOMALY Q225 Q22.5 : Ebsteins anomaly Q226 Q22.6 : Hypoplastic right heart syndrome 2
7463 7463 CONGENITAL STENOSIS AORTIC VALVE Q230 Q23.0 : Congenital stenosis of aortic valve 7467 7467 HYPOPLASTIC LEFT HEART SYNDROME Q234 Q23.4 : Hypoplastic left heart syndrome 74710 7471 COARCTATION OF AORTA Q251 Q25.1 : Coarctation of aorta 74722 7472 OTHER ANOMALIES OF AORTA Q252 Q25.2 : Atresia of aorta 74722 7472 OTHER ANOMALIES OF AORTA Q253 Q25.3 : Stenosis of aorta 74729 7472 OTHER ANOMALIES OF AORTA Q254 Q25.4 : Other congenital malformations of aorta 7473 7473 ANOMALIES OF PULMONARY ARTERY Q255 Q25.5 : Atresia of pulmonary artery 74741 7474 ANOMALIES OF GREAT VEINS Q262 Q26.2 : Total anomalous pulmonary venous connection 74742 7474 ANOMALIES OF GREAT VEINS Q263 Q26.3 : Partial anomalous pulmonary venous connection Hypoplastic Left Heart Syndrome 7467 7467 HYPOPLASTIC LEFT HEART SYNDROME Q234 Q23.4 : Hypoplastic left heart syndrome Cleft Palate or Cleft lip With or Without Cleft Palate 74900 7490 CLEFT PALATE Q351 Q35.1 : Cleft hard palate 74900 7490 CLEFT PALATE Q353 Q35.3 : Cleft soft palate 74900 7490 CLEFT PALATE Q355 Q35.5 : Cleft hard palate with cleft soft palate 74902 7490 CLEFT PALATE Q357 Q35.7 : Cleft uvula 74900 7490 CLEFT PALATE Q359 Q35.9 : Cleft palate, unspecified 74910 7491 CLEFT LIP Q36 Q36 : Cleft lip 74900 7490 CLEFT PALATE Q37 Q37 : Cleft palate with cleft lip Limb Reductions 75521 7552 REDUCTION DEFORMITIES OF UPR LIMB Q710 Q71.0 : Congenital complete absence of upper limb(s) 75521 7552 REDUCTION DEFORMITIES OF UPR LIMB Q711 Q71.1 : Congenital absence of upper arm and forearm with hand present 75521 7552 REDUCTION DEFORMITIES OF UPR LIMB Q712 Q71.2 : Congenital absence of both forearm and hand 75521 7552 REDUCTION DEFORMITIES OF UPR LIMB Q713 Q71.3 : Congenital absence of hand and finger(s) 75526 7552 REDUCTION DEFORMITIES OF UPR LIMB Q714 Q71.4 : Longitudinal reduction defect of radius 75527 7552 REDUCTION DEFORMITIES OF UPR LIMB Q715 Q71.5 : Longitudinal reduction defect of ulna 75520 7552 REDUCTION DEFORMITIES OF UPR LIMB Q718 Q71.8 : Other reduction defects of upper limb(s) 75520 7552 REDUCTION DEFORMITIES OF UPR LIMB Q719 Q71.9 : Reduction defect of upper limb, unspecified 75531 7553 REDUCTION DEFORMITIES OF LWR LIMB Q720 Q72.0 : Congenital complete absence of lower limb(s) 75531 7553 REDUCTION DEFORMITIES OF LWR LIMB Q721 Q72.1 : Congenital absence of thigh and lower leg with foot present 75531 7553 REDUCTION DEFORMITIES OF LWR LIMB Q722 Q72.2 : Congenital absence of both lower leg and foot 3
75531 7553 REDUCTION DEFORMITIES OF LWR LIMB Q723 Q72.3 : Congenital absence of foot and toe(s) 75534 7553 REDUCTION DEFORMITIES OF LWR LIMB Q724 Q72.4 : Longitudinal reduction defect of femur 75536 7553 REDUCTION DEFORMITIES OF LWR LIMB Q725 Q72.5 : Longitudinal reduction defect of tibia 75537 7553 REDUCTION DEFORMITIES OF LWR LIMB Q726 Q72.6 : Longitudinal reduction defect of fibula 75530 7553 REDUCTION DEFORMITIES OF LWR LIMB Q727 Q72.7 : Split foot 75530 7553 REDUCTION DEFORMITIES OF LWR LIMB Q728 Q72.8 : Other reduction defects of lower limb(s) 75530 7553 REDUCTION DEFORMITIES OF LWR LIMB Q729 Q72.9 : Reduction defect of lower limb, unspecified 7554 7554 REDUCTION DEFORMITIES, UNSPC LIMB Q730 Q73.0 : Congenital absence of unspecified limb(s) 7554 7554 REDUCTION DEFORMITIES, UNSPC LIMB Q731 Q73.1 : Phocomelia, unspecified limb(s) 7554 7554 REDUCTION DEFORMITIES, UNSPC LIMB Q738 Q73.8 : Other reduction defects of unspecified limb(s) Hydrocephalus 7423 7423 CONGENITAL HYDROCEPHALUS Q030 Q03.0 : Malformations of aqueduct of Sylvius 7423 7423 CONGENITAL HYDROCEPHALUS Q031 Q03.1 : Atresia of foramina of Magendie and Luschka 7423 7423 CONGENITAL HYDROCEPHALUS Q038 Q03.8 : Other congenital hydrocephalus 7423 7423 CONGENITAL HYDROCEPHALUS Q039 Q03.9 : Congenital hydrocephalus, unspecified Oesophageal Atresia/Stenoisis 7503 7503 TRACHEOESOPHAGEAL FIST,ATRES,STENO Q390 Q39.0 : Atresia of oesophagus without fistula 7503 7503 TRACHEOESOPHAGEAL FIST,ATRES,STENO Q391 Q39.1 : Atresia of oesophagus with tracheo-oesophageal fistula 7503 7503 TRACHEOESOPHAGEAL FIST,ATRES,STENO Q392 Q39.2 : Congenital tracheo-oesophageal fistula without atresia 7503 7503 TRACHEOESOPHAGEAL FIST,ATRES,STENO Q393 Q39.3 : Congenital stenosis and stricture of oesophagus 7503 7503 TRACHEOESOPHAGEAL FIST,ATRES,STENO Q394 Q39.4 : Oesophageal web Anorectal and Large Intestine Atresia/Stenoisis 7512 7512 ATRES,STEN LRG INTEST,RECTM,ANAL C Q420 Q42.0 : Congenital absence, atresia and stenosis of rectum with fistula 7512 7512 ATRES,STEN LRG INTEST,RECTM,ANAL C Q421 Q42.1 : Congenital absence, atresia and stenosis of rectum without fistula 7512 7512 ATRES,STEN LRG INTEST,RECTM,ANAL C Q422 Q42.2 : Congenital absence, atresia and stenosis of anus with fistula 7512 7512 ATRES,STEN LRG INTEST,RECTM,ANAL C Q423 Q42.3 : Congenital absence, atresia and stenosis of anus without fistula 7512 7512 ATRES,STEN LRG INTEST,RECTM,ANAL C Q428 Q42.8 : Congenital absence, atresia and stenosis of other parts of large intestine 7512 7512 ATRES,STEN LRG INTEST,RECTM,ANAL C Q429 Q42.9 : Congenital absence, atresia and stenosis of large intestine, part unspecified Hypospadias and Epispadia 4
75263 75269 75269 75262 ANOM Q540 Q54.0 : Hypospadias, balanic ANOM Q541 Q54.1 : Hypospadias, penile ANOM Q542 Q54.2 : Hypospadias, penoscrotal ANOM Q543 Q54.3 : Hypospadias, perineal ANOM Q544 Q54.4 : Congenital chordee ANOM Q548 Q54.8 : Other hypospadias ANOM Q549 Q54.9 : Hypospadias, unspecified ANOM Q5560 Q55.60 : Hypoplasia of penis ANOM Q5568 Q55.68 : Other congenital malformations of penis ANOM Q640 Q64.0 : Epispadias Gastroschisis 75679 7567 ANOMALIES OF ABDOMINAL WALL Q792 Q79.2 : Exomphalos 75679 7567 ANOMALIES OF ABDOMINAL WALL Q793 Q79.3 : Gastroschisis 75679 7567 ANOMALIES OF ABDOMINAL WALL Q795 Q79.5 : Other congenital malformations of abdominal wall Renal Agenesis/Hypoplasia 7530 7530 RENAL AGENESIS AND DYSGENESIS Q600 Q60.0 : Renal agenesis, unilateral 7530 7530 RENAL AGENESIS AND DYSGENESIS Q601 Q60.1 : Renal agenesis, bilateral 7530 7530 RENAL AGENESIS AND DYSGENESIS Q602 Q60.2 : Renal agenesis, unspecified 7530 7530 RENAL AGENESIS AND DYSGENESIS Q603 Q60.3 : Renal hypoplasia, unilateral 7530 7530 RENAL AGENESIS AND DYSGENESIS Q604 Q60.4 : Renal hypoplasia, bilateral 7530 7530 RENAL AGENESIS AND DYSGENESIS Q605 Q60.5 : Renal hypoplasia, unspecified 7530 7530 RENAL AGENESIS AND DYSGENESIS Q606 Q60.6 : Potters syndrome 5