Congenital Malformations Registry - Summary Report

Appendix 2

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


  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. New York: Alan R. Liss, 1985:51-53.
  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.