Critical congenital heart disease (CCHD) is a category of congenital heart disease that includes a range of disorders requiring intervention soon after birth. Screening consists of measuring the oxygen saturation (as a reflection of hypoxemia) by using a pulse oximeter in the right hand as well as either foot. Babies who screen positive do not necessarily have CCHD, as other conditions can also lead to low oxygen saturation. Diagnostic testing for CCHD includes echocardiogram and cardiac catheterization. Primary treatment is usually surgical. CCHD includes the following conditions: hypoplastic left heart syndrome, pulmonary atresia, truncus arteriosus, total anomalous pulmonary venous connection, d-transposition of the great arteries, tetralogy of Fallot, and tricuspid atresia.
Condition:1 | Critical congenital heart disease |
---|---|
Abbreviation:1 | CCHD |
Category:2 | Core |
SNOMED CT Code:3 |
61959006—Common arterial trunk (truncus
arteriosus)
26146002—Complete transposition of great
vessels
204342004—Congenital atresia of pulmonary
valve
13213009—Congenital heart disease
204354004—Congenital tricuspid atresia and
stenosis
62067003—Hypoplastic left heart syndrome
204456001—Subdiaphragmatic total anomalous
pulmonary venous return
204457005—Supradiaphragmatic total
anomalous pulmonary venous return
86299006—Tetralogy of Fallot
204297006—Total great vessel transposition
|
ICD-9-CM Code:5 |
746.01—Atresia of pulmonary valve,
congenital
745.0—Common truncus
745.10—Complete transposition of great
vessels
746.7—Hypoplastic left heart syndrome
745.2—Tetralogy of fallot
747.41—Total anomalous pulmonary venous
connection
746.1—Tricuspid atresia and stenosis,
congenital
|
ICD-10-CM Code:6 |
Q20.0—Common arterial trunk
Q22.4—Congenital tricuspid stenosis
Q20.3—Discordant ventriculoarterial
connection
Q23.4—Hypoplastic left heart syndrome
Q22.0—Pulmonary valve atresia
Q21.3—Tetralogy of Fallot
Q26.2—Total anomalous pulmonary venous
connection
|
These measurements are associated with the condition:
LOINC Long Common Name10 | Analyte Short Name11 |
LOINC Number12 |
Units13 |
---|---|---|---|
CCHD newborn screening interpretation | 73700-7 | Answer list | |
CCHD newborn screening protocol used [Type] | CCHD protocol | 73697-5 | |
Oxygen saturation.preductal-oxygen saturation.postductal [Mass fraction difference] in Bld.preductal and Bld.postductal | Pre-post difference | 73696-7 | % |
Oxygen saturation in Blood Postductal by Pulse oximetry | Postductal O2 sat | 59418-4 | % |
Oxygen saturation in Blood Preductal by Pulse oximetry | Preductal O2 sat | 59407-7 | % |
Additional information is available from the Online Mendelian Inheritance in Man (OMIM®)14:
Table — Code mapping table for representative CCHD conditions across standard terminologies.
Condition | CDC/BPA code15 | ICD-9-CM code5 | ICD-10-CM code6 | SNOMED CT code3 | STS/IPCCC code16 |
---|---|---|---|---|---|
Hypoplastic Left Heart Syndrome | 746.70 | 746.7 | Q23.4 | 62067003 | 730 |
Pulmonary Atresia | 746.00 | 746.01 | Q22.0 | 204342004 | 330 |
Truncus Arteriosus | 745.00 | 745.0 | Q20.0 | 61959006 | 160 |
Total Anomalous Pulmonary Venous Connection (TAPVC/TAPVR) | 747.42 | 747.41 | Q26.2 | 111323005 | 200 |
d-Transposition of the Great Arteries | 745.10 | 745.10 | Q20.3 | 26146002, 204297006 | 880 |
Tetralogy of Fallot | 745.2 | 745.2 | Q21.3 | 86299006 | 290 |
Tricuspid Atresia | 746.100 | 746.1 | Q22.4 | 204354004 | 390 |
Legend
Condition Name and Abbreviation — curated by the NLM and selected from among the names used by the Advisory Committee on Heritable Disorders in Newborns and Children (Committee), National Newborn Screening Information System (NNSIS), the American College of Medical Genetics (ACMG), the HHS Office of the National Coordinator for Health Information Technology (ONC)/American Health Information Community (AHIC) Personalized Health Care Work Group, and input from the newborn screening community.
Category — based on the U.S. Department of Health and Human Services (HHS) Recommended Uniform Screening Panel. Conditions designated as "core" should be included in every newborn screening program, and "secondary" conditions are some of the disorders that may be detected during screening for a core disorder. Conditions classified as "other" are those that are screened for by some states but are not part of the Recommended Uniform Screening Panel.
SNOMED CT® Code — Systematized Nomenclature of Medicine — Clinical Terms code is assigned by the International Health Terminology Standards Development Organisation (IHTSDO). SNOMED CT is a concept-oriented clinical terminology that has been designated as a U.S. standard for electronic health information exchange. The Newborn Screening Coding and Terminology Guide uses some codes from the US Extension to SNOMED CT.
UMLS CUI — a concept unique identifier (CUI) assigned to every concept in the Unified Medical Language System (UMLS®).
ICD-9-CM Code — International Classification of Diseases, Ninth Revision, Clinical Modification code is assigned to diagnoses associated with hospital utilization in the U.S. It is a current US standard for use in administrative healthcare transactions. Although ICD-9-CM codes are fairly specific, in certain cases, the same ICD-9-CM code might apply to several disorders in the same group (e.g. amino acid disorders).
ICD-10-CM Code — International Classification of Diseases, Tenth Revision, Clinical Modification code. Although ICD-10-CM codes are fairly specific, in certain cases, the same ICD-10-CM code might apply to multiple related disorders.
Enzyme Commission (EC) Number —
a unique identifier for the affected enzyme (if the affected protein is an enzyme); the EC number is
assigned by the 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.
UniProt Number — a unique identifier assigned to all proteins, including
enzymes, hemoglobin subunits, and immunoglobulin chains. The UniProt database is maintained by the Universal Protein
Resource, an international collaboration.
Affected Protein — the structure that is abnormal in this condition. The affected protein could be an enzyme, a hormone, or a specific molecule such as hemoglobin or immunoglobulin chain. If the affected protein is an enzyme, it will have an Enzyme Commission (EC) number.
LOINC Long Common Name — 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 — an abbreviation for the analyte.
LOINC Number — 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 — what is being counted or measured, using the Unified Code for
Units of Measure (UCUM). Ratios whose units fully cancel each other are indicated
by {Ratio}. UCUM is the US standard for reporting units in laboratory messages. Results that are not
quantitative have either a link to the specific LOINC answer list for that analyte or appropriate text (such
as "Pos or Neg" or "Specific alleles").
OMIM — Online Mendelian Inheritance in Man® is a comprehensive resource about human genes and genetic
diseases. It focuses primarily on the relationship between genotype and phenotype. It is currently
maintained by Johns Hopkins University.
CDC/BPA — The Centers for Disease Control and Prevention/ British Paediatric Association (CDC/BPA) codes are unique codes developed by the CDC for tracking birth defects. The codes stem from ICD-9-CM with modifications based on BPA terminology.
STS/IPCCC — The Society of Thoracic Surgeons' (STS) codes and International Pediatric and Congenital Cardiac Codes (IPCCC) are specific codes for cardiac lesions. IPCCC uses detailed, multi-axial coding to capture the full details of the lesion. IPCCC codes are encouraged for use in cardiac research by the National Heart, Lung, and Blood Institute. STS codes are more general codes that were based on the fine-grained IPCCC codes. STS codes are used to record patient diagnoses in the STS Congenital Heart Surgery Database.