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

  1. Marden PM, Smith DW, McDonald MJ. Congenital anomalies in the newborn infant including minor variations. J Pediat 1964; 64:357-371.
  2. 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.
  3. 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<.
  4. Myrianthopoulos NC, Chung CS. Congenital malformations in singletons: epidemiologic survey. Birth Defects: Original Article Series, 1974; X: 2-3, 51-58.
  5. 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.

See also epispadias.

mosaic so that there is a population of normal cells and a population of trisomy 13 cells. Patau syndrome is characterized by impaired midline facial development, cleft lip and palate, polydactyly and mental retardation. Most infants do not survive beyond 6 months of life.

or right and left lower chambers of the heart) allowing a mixing of oxygenated and unoxygenated blood. The openings vary in size and may resolve without treatment or require surgical treatment.

*Courtesy of the Texas Birth Defects Monitoring Division February 1999