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Hemoglobin disorders newborn screen interpretation - Analyte/Measurement Details

Names and Codes

LOINC® Long Common Name:1Hemoglobin disorders newborn screen interpretation
LOINC Number:246740-7

Answer List

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

LOINC
Answer
ID3
Answer Text4
LA18592-8In range
LA4259-3Borderline
LA11884-6Indeterminate
LA18593-6Out of range
LA12430-7Out of range requiring further dried blood spot testing for at least one condition
LA25817-0Out of range requiring immediate referral
LA12431-5Out of range requiring immediate second-tier testing for at least one condition
LA18594-4Out of range requiring deferred follow-up for at least one condition
LA16204-2One or more tests pending
LA16205-9Specimen unsatisfactory for at least one condition

Conditions

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

Condition5
Choose condition to view related measurements
Abbreviation5Category6SNOMED CT Code7ICD-9-​CM Code8ICD-10-​CM Code9Affected Protein10EC#11UniProt Number12
Hb C beta-thalassemiaHb F,C,ASecondary
61777009
282.49
D56.9
Hemoglobin subunit beta
N/A
P68871
Hb C-carrierHb F,A,CSecondary
76050008
282.7
D58.2
Hemoglobin subunit beta
N/A
P68871
Hb C-diseaseHb F,CSecondary
51053007
282.7
D58.2
Hemoglobin subunit beta
N/A
P68871
Hb D beta-thalassemiaHb F,D,ASecondary
47047009
282.49
D56.9
Hemoglobin subunit beta
N/A
P68871
Hb D-carrierHb F,A,DSecondary
7391009
282.7
D58.2
Hemoglobin subunit beta
N/A
P68871
Hb E beta-thalassemiaHb F,E,ASecondary
234392002
282.49
D56.9
Hemoglobin subunit beta
N/A
P68871
Hb E-carrierHb F,A,ESecondary
46248003
282.7
D58.2
Hemoglobin subunit beta
N/A
P68871
Hb E-diseaseHb F,ESecondary
25065001
282.7
D58.2
Hemoglobin subunit beta
N/A
P68871
Hb H-diseaseHb F,HSecondary
48553001
282.49
D56.0
Hemoglobin subunit beta
N/A
P68871
Hb S (sickle)-carrierHb F,A,SSecondary
16402000
282.5
D57.3
Hemoglobin subunit beta
N/A
P68871
Hb S O-Arab diseaseHb F,S,O-ArabSecondary
127048005
282.68
D57.80
Hemoglobin subunit beta
N/A
P68871
Hb S Other than A,C,D,E,O-ArabHb F,S and other than A,C,D,E,O-ArabSecondary
23269001
282.68
D57.80
Hemoglobin subunit beta
N/A
P68871
Hb S beta-thalassemiaHb F,S,ACore
127041004
282.41
D57.40
Hemoglobin subunit beta
N/A
P68871
Hb SC-diseaseHb F,S,CCore
35434009
282.63
D57.20
Hemoglobin subunit beta
N/A
P68871
Hb SD-diseaseHb F,S,DSecondary
25472008
282.68
D57.80
Hemoglobin subunit beta
N/A
P68871
Hb SE-diseaseHb F,S,ESecondary
47024008
282.68
D57.80
Hemoglobin subunit beta
N/A
P68871
Hb SS-disease (sickle cell anemia)Hb F,SCore
127040003
282.60
D57.1
Hemoglobin subunit beta
N/A
P68871
Hb beta zero-thalassemiaHb F onlySecondary
86715000
282.49
D56.1
Hemoglobin subunit beta
N/A
P68871
Hb carrier other than C,D,E,S,O-ArabHb F,A and other than C,D,E,S,O-ArabSecondary
123773003
282.7
D58.2
Hemoglobin subunit beta
N/A
P68871
Hb disease other than A,C,D,E,F,H,O-Arab,SHb F, and other than A,C,D,E,F,H,O-Arab,SSecondary
80141007
282.7
D58.2
Hemoglobin subunit beta
N/A
P68871

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

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.

6

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.

7

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.

8

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).

9

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.

10

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.

11

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.

12

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: September 14, 2009
Record last updated: January 19, 2016