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Congenital Malformations Registry - Summary Report

Appendix 1: Classification of Codes

Congenital malformations have traditionally been divided into categories of "major" and "minor". A major anomaly has an adverse effect on the individual's health, functioning or social acceptability. A minor anomaly is generally considered of limited social or medical significance. While minor anomalies in themselves do not greatly affect the child, they can be related to major anomalies or be indications of certain syndromes.^1,2

The division between major and minor is far from perfect. No standard lists or definitions exist. We used several sources, including the practices of other registries, to develop a list of minor anomalies.^{3, 4, 5} One serious problem in making this distinction is that some ICD-9-CM codes include major and minor malformations under the same code. A more specific coding scheme that eliminates most of these problems has been adopted.

Following is a general listing of conditions included in this report and their classification. A few codes are not listed since they contain only a very few cases. Reporting hospitals receive a CMR Handbook with a complete, detailed list of reportable anomalies.

Major Malformations
658.8 740 - 759* 760.71 771.0 - 771.2	Amniotic Bands Congenital Anomalies Fetal Alcohol Syndrome Congenital Infections: including rubella, cytomegalovirus toxoplasmosis and herpes simplex
^*See list of minor and excluded codes
Minor Malformations
214 216 228.01 550 553.1 743.65 744.1 744.29 744.3 744.4 744.89 744.9 747.0 747.5 752.41 752.42 752.5 754.61 755.0 755.11, 755.13 757.2 757.32 757.33 757.39 757.4 757.5 757.6 757.8 757.9	Lipoma Benign neoplasm of skin Hemangioma of skin Inguinal hernia in males Umbilical hernia Specified congenital anomalies of lacrimal passages Accessory auricle Other specified anomalies of ear Unspecified anomaly of ear Branchial cleft cyst Other specified anomalies of face and neck Other unspecified anomalies of face and neck Patent ductus arteriosis, if birth weight <1500 grams Single umbilical artery Embryonic cyst of cervix, vagina and external female genitalia Imperforate hymen Undescended testicle, if birth weight < 2500 grams Congenital pes planus Polydactyly Syndactyly without fusion of bone Dermatoglyphic anomalies Vascular hamartomas Congenital pigmentation anomalies of skin Other anomalies of skin Specified anomalies of hair Specified anomalies of nails Specified anomalies of breast Other specified anomalies of integument Unspecified anomalies of the integument

750.0 758.4 778.6	Tongue tie Balanced autosomal translocation in normal individual Congenital hydrocele

References

Marden PM, Smith DW, McDonald MJ. Congenital anomalies in the newborn infant including minor variations. J Pediat 1964; 64:357-371.
Lippig KA, Werler MM, Caron CI, Cook CA, Holmes LB. Predictive value of minor abnormalities: association with major malformations. J Pediatr 1987; 110:530-537.
Merlob P, Papier CM, Klingberg MA, Reisner SH. Incidence of congenital malformations in the newborn, particularly minor abnormalities. In: Marois, ed. Prevention of physical and mental congenital defects, Part C: Basic and medical sciences, education and future strategies. Proceedings of a conference of the Institut de la Vie<.
Myrianthopoulos NC, Chung CS. Congenital malformations in singletons: epidemiologic survey. Birth Defects: Original Article Series, 1974; X: 2-3, 51-58.
Jones KL, Smith's Recognizable Patterns of Human Malformation. 4th ed. Philadelphia: W.B. Saunders Co., 1988:662-681.

Appendix 2: Birth Certificate Matching

Birth certificate matching is a vital part of registry activities. This serves to verify the individual's identity and distinguish him or her from all others and provides additional information about the baby and the mother. The matching is used to determine maternal residence at birth and to verify race and birth weight. Matched cases provide a basis to calculate population-based rates. It is critical to match a high percentage of cases to calculate rates accurately and to conduct meaningful surveillance.

Birth certificate matching is carried out by a computer program that compares the birth certificate tape for a given year to the CMR file of cases who were born in that year. The files are compared on several variables until (1) a match is found, (2) a possible match is found or (3) the list is exhausted without finding a match.

Possible matches are reviewed by CMR staff and a decision made about whether there is a match. Unmatched cases are checked further to see if data items have been correctly keyed and all possible aliases have been identified. An online search of the birth certificate files is done and certificates on file at the Vital Records office are reviewed to find unmatched cases. However, review of actual certificates is possible only for children born outside New York City since New York City birth certificates are not on file in Albany. New York City maintains its own vital records files.

The matching process is repeated until about 95% of reported cases are matched. This is a compromise between completeness and efficiency. After about 90% of cases are matched, each additional percentage requires greater and greater effort. The ability to review a copy of the birth certificate greatly enhances the chance of making a match. Matching is more complete for cases born in the state outside New York City than for New York City cases.

Appendix 3: BPA Codes

Many birth defects registries use a coding system modified from the British Pediatric Association (BPA). This coding system provides more specificity than the ICD-9 system. The Centers for Disease Control and Prevention Metropolitan Atlanta Congenital Defects Program (MACDP) has developed codes that group conditions. The table below shows the MACDP codes and the corresponding BPA and ICD-9 codes. The ICD-9 code may include conditions others than those specified by the BPA code. For example, ICD-9 code 756.7 includes both gastroschisis and omphalocele, but the BPA code allows these conditions to be distinguished.

MACDP Code	Condition	ICD-9	BPA 5-Digit Code

A01	Anencephaly	740.0, 740.1, 740.2	740.00, 740.02, 740.03, 740.10, 740.20, 740.21, 740.29
A02	Spina Bifida with Hydrocephaly	741.0	741.00, 741.01, 741.02, 741.03, 741.04, 741.05, 741.06, 741.07, 741.08, 741.09
A03	Spina Bifida without Hydrocephaly	741.9	741.90, 741.91, 741.92, 741.93, 741.94, 741.98, 741.99, 742.00, 742.08, 742.09
A13	Encephalocele	742.0	742.00, 742.08, 742.09
A15	Hydrocephaly	742.3	742.30, 742.31, 742.38, 742.39
A16	Microcephalus	742.1	742.10

B01	Anophthalmia, Microphthalmia	743.0, 743.1	743.00, 743.10
B03	Glaucoma	743.2	743.20, 743.21, 743.22
B04	Cataract		743.32
B54	Ear anomaly with hearing loss	744.0	744.00, 744.01, 744.02, 744.03, 744.09, 744.21

D01	Truncus arteriosus	745.0	745.00, 745.01
D02	Transposition of great vessels	745.1	745.10, 745.11, 745.12, 745.18, 745.19
D03	Tetralogy of Fallot	745.2	745.20, 745.21, 746.84
D04	Single ventricle	745.3	745.30
D05	VSD	745.4	745.40, 745.41, 745.48, 745.49
D52	Hypoplastic left heart	746.7	746.70
D53	Total anomalous pulmonary venous return	747.41	747.42

E01	Choanal atresia	748.0	748.00
E06	Agenesis of lung	748.5	748.50, 748.51

F01	Cleft palate	749.0	749.00, 749.01, 749.02, 749.03, 749.04, 749.05, 749.06, 749.07, 749.09
F02	Cleft lip with or without cleft palate	749.0, 749.2, 750.5	749.10, 749.11, 749.12, 749.19, 749.20, 749.21, 749.22, 749.29, 749.51

F14	Stenosis or atresia of duodenum	751.1	751.10
F15	Other stenosis or atresia of small intestine	751.1	751.11, 751.12, 751.19
F16	Stenosis or atresia of rectum or anus	751.2	751.21, 751.22, 751.23, 751.24
F17	Hirschsprung's Disease	751.3	751.30, 751.31, 751.32, 751.33
F18	Malrotation of intestine	751.4	751.40, 751.41, 751.42, 751.49
F21	Biliary atresia	751.61	751.65

H01	Renal agenesis	753.0	753.00, 753.01
H06	Obstruction of kidney or ureter	753.3	753.20, 753.21, 753.22, 753.29, 753.40, 753.42
H09	Bladder or urethra obstruction	753.6	753.60, 753.61, 753.62, 753.63

J02	Curvature of spine (scoliosis or lordosis)	754.2	754.20, 754.21, 754.22
J03	Dislocation of hip	754.3	754.30
J11	Arthrogryposis multiplex congenita	754.89	755.80
K01	Reduction deformity - upper limb	755.2	755.20, 755.21, 755.22, 755.23, 755.24, 755.25, 755.26, 755.27, 755.28, 755.29
K02	Reduction deformity - lower limb	755.3	755.30, 755.31, 755.32, 755.33, 755.34, 755.35, 755.36, 755.37, 755.38, 755.39
K05	Amniotic bands	658.8	658.80
N01	Diaphragmatic hernia	756.6	756.61
N02	Omphalocele	756.7	756.70
N04	Gastroschisis	756.7	756.71

R01	Down Syndrome	758.0	758.00, 758.01, 758.02, 758.03, 758.04, 758.09
R02	Patau Syndrome (Trisomy 13)	758.1	758.10, 758.11, 758.12, 758.13, 758.19
R03	Edwards Syndrome (Trisomy 18)	758.2	758.20, 758.21, 758.23, 758.29
S02	Fetal Alcohol Syndrome	760.71	760.71
W03	Conjoined twins	759.4	759.40, 759.41, 759.42, 759.43, 759.44, 759.48, 759.49

Appendix 4: Glossary of Terms^*

ostium secundum defect.

translocation. The extra copy can be free-lying, or can be attached to some other chromosome, most frequently number 14. Down syndrome can occur in mosaic. So that there is a population of normal cells and a population of trisomy 21 cells. Down syndrome is characterized by moderate to severe mental retardation, sloping forehead, small ear canals, flat bridged nose and short fingers and toes. One third of infants have congenital heart disease, and one third have duodenal atresia. (Both can be present in the same infant.) Affected people can survive to middle or old age. There is an increased incidence of Alzheimer disease in adults with Down syndrome.