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CCHD newborn screening interpretation - Analyte/Measurement Details

Names and Codes

LOINC® Long Common Name:1CCHD newborn screening interpretation
LOINC Number:273700-7

Answer List

The results of the measurement are expressed using the following answer list.

LOINC
Answer
ID3
Answer Text4SNOMED CT Code5SNOMED CT Preferred Term6UMLS
CUI7
LA18592-8In range   
LA18593-6Out of range   
LA19816-0Inconclusive, repeat screen needed   
LA19817-8Attempted but unsuccessful - technical fail   
LA7304-4Not performed
262008008
Not performed
C0445106

Conditions

The analyte/measurement serves as a marker for the following conditions.

Condition8
Choose condition to view related measurements
Abbreviation8Category9SNOMED CT Code5ICD-9-​CM Code10ICD-10-​CM Code11Affected Protein12EC#13UniProt Number14
Critical congenital heart diseaseCCHDCore
13213009
204297006
204342004
204354004
204456001
204457005
26146002
61959006
62067003
86299006
745.0
745.10
745.2
746.01
746.1
746.7
747.41
Q20.0
Q20.3
Q21.3
Q22.0
Q22.4
Q23.4
Q26.2
N/A
N/A
N/A

Legend

1

LOINC Long Common Name — derived by the Logical Observation Identifiers Names and CodesExternal Web Site Policy (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.

2

LOINC Number — the unique and permanent code assigned by the Logical Observation Identifiers Names and CodesExternal Web Site Policy (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).

3

LOINC answer ID — a code that identifies the specific answer choice for an analyte that has a fixed set of results.

4

Answer text — the specific answer choice for an analyte that has a fixed set of results.

5

SNOMED CT® CodeSystematized 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.

6

SNOMED CT® Preferred Term — the common clinical version of each SNOMED concept.

7

UMLS CUI — a concept unique identifier (CUI) assigned to every concept in the Unified Medical Language System (UMLS®).

8

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.

9

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.

10

ICD-9-CM CodeInternational 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).

11

ICD-10-CM CodeInternational 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.

12

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.

13

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 CatalyseExternal Web Site Policy.

14

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 ResourceExternal Web Site Policy, an international collaboration.

Record created: April 30, 2013
Record last updated: July 30, 2013