Description of Condition Table

Enzyme Name is the name of the enzyme that is abnormal in this condition. "N/A" indicates that an enzyme does not apply.

Enzyme Commission Number is used to identify the involved enzyme: Recommendations of the Nomenclature Committee of the International Union of Biochemistry and Molecular Biology on the Nomenclature and Classification of Enzymes by the Reactions they Catalyse.

ACHDNC Categories are from the U.S. Department of Health and Human Services (HHS) Recommended Uniform Screening Panel of the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC). These categories are based on a report by the American College of Medical Genetics (ACMG) and commissioned by the Health Resources and Services Administration (HRSA). ACHDNC recommends that the Core Conditions should be included in every newborn screening program, and defines the Secondary Target Conditions as disorders that can be detected in the differential diagnosis of a core disorder. The ACHDNC maintains and periodically updates the panel.

OMIM ID identifies the record from the Online Mendelian Inheritance in Man (OMIM®) database that describes the disorder. OMIM is a catalog of human genes and genetic disorders from the National Library of Medicine and Johns Hopkins University.

SNOMED CT® (Systematized Nomenclature of Medicine — Clinical Terms) is an extensive, concept-oriented clinical terminology. It has been designated as a U.S. standard for electronic health information exchange in Interoperability Specifications produced by the Healthcare Information Technology Standards Panel (HITSP) and has also been adopted as a standard for use by the U.S. Federal Government for several clinical domains.

ICD-9-CM Code is a code assigned to diagnoses associated with hospital utilization in the U.S.: from the International Classification of Diseases, Ninth Revision, Clinical Modification, vols. 1-2. It is a current US standard for use in administrative transactions covered by regulations that implemented the Health Insurance Portability and Accountability Act of 1996 (HIPAA).

ICD-10-CM Code is a code that will in the future be assigned to diagnoses and procedures associated with hospital utilization in the U.S.: from the International Classification of Disease, Tenth Revision, Clinical Modification. It is scheduled to replace ICD-9-CM, vols. 1-2 as a HIPAA standard in 2013.

Description of Analyte/Measurement Table

LOINC Long Common Name is derived by the Logical Observation Identifiers Names and Codes (LOINC®) Committee from the measurement's formal name by using conventional names for analytes and procedures. The long common name eliminates the parts of the formal name that are not needed to distinguish the test from related tests.

Analyte Short Name is an abbreviation for the analyte.

LOINC Number is the unique and permanent code assigned by the Logical Observation Identifiers Names and Codes (LOINC®) Committee to identify the test measurement. LOINC codes are unique for different test methods and different units of reporting to enable interoperability and comparison of results from different labs. LOINC is a U.S. government standard for electronic health information exchange of laboratory tests and other measurements in Interoperability Specifications produced by the Healthcare Information Technology Standards Panel (HITSP).

Units: For quantitative tests with units of measure, the table lists the preferred reporting units. We use printable alphanumeric characters to avoid problems of interoperability that occur with Greek characters. Ratios and categorical variables do not have units of measure. The table shows UCUM units which have been adopted as the standard by the US for units reporting in Laboratory messages.