Name Steward Organization Suggested Domain Suggested Domain Description Cde Group Classification
Gaucher disease newborn screen interpretation NLM Disease characterization
Including Alzheimer's Disease (AD)/AD-Related Dementias (ADRD) diagnosis and multiple chronic conditions (MCCs)
 NIH CDEs
  • ▼ NLM
    • ▼ Newborn Screening
      • ▼ Classification
        • Chemistry

# Datatype

UUID: 22417b2b-f5f2-5542-86d4-dffbad546e91

Value List

# Permissible value Value meaning name Value meaning code Code system name

UUID: 34a43f11-f4e0-5bc7-bd53-874312d6a743

Borderline Borderline LA4259-3 LOINC

UUID: 3c3aac29-e904-54c9-8a96-9562fa3611d3

In range In range LA18592-8 LOINC

UUID: a0cbd90e-e5c7-55e3-89a4-8bfb49c6cdb1

Indeterminate Indeterminate LA11884-6 LOINC

UUID: 8abe8719-9f65-5ceb-9b8c-a008409d2e23

One or more tests pending One or more tests pending LA16204-2 LOINC

UUID: b2105385-ed7b-58eb-be63-c3f8da350c84

Out of range Out of range LA18593-6 LOINC

UUID: 2fd44e72-2b2b-50d5-99c0-c8ad8f4a8748

Out of range requiring deferred follow-up for at least one condition Out of range requiring deferred follow-up for at least one condition LA18594-4 LOINC

UUID: 53705680-6072-52c3-8c9a-61d4f374fc93

Out of range requiring further dried blood spot testing for at least one condition Out of range requiring further dried blood spot testing for at least one condition LA12430-7 LOINC

UUID: e324e185-d8b8-50cb-8576-af4adc9cf3b6

Out of range requiring immediate referral Out of range requiring immediate referral LA25817-0 LOINC

UUID: 42415d8b-37ca-5654-983f-d1eb37764fb8

Out of range requiring immediate second-tier testing for at least one condition Out of range requiring immediate second-tier testing for at least one condition LA12431-5 LOINC

UUID: 72fba2f1-9950-58dc-9f53-22ff61250961

Specimen unsatisfactory for at least one condition Specimen unsatisfactory for at least one condition LA16205-9 LOINC

# Name Origin Origin Concept type

UUID: 020635f2-5a96-5cd9-8f9a-9675acab402b

Disease LOINC - Part - Fragments for synonyms LP21006-9 property

UUID: 05618800-aeee-5c69-b32a-62062c4d0d95

Nom LOINC - Part - Scale LP7750-5 property

UUID: 0de9c4e7-1a72-5ca0-9204-c3c21cfe3705

Bld.dot [Dried blood spot] LOINC - Part - System LP21304-8 property

UUID: 20097f14-946f-5011-9388-cd03a5903d2f

Pt [Point in time (spot)] LOINC - Part - Time LP6960-1 property

UUID: afda0058-6cd8-57d8-b712-716f3000517e

Gaucher disease LOINC - Part - Component LP113916-3 object

UUID: c206d818-bac2-54b8-a41c-14bd77338aa4

Imp [Impression/interpretation of study] LOINC - Part - Property LP6819-9 property

# Designation Tags

UUID: b1084d4f-57dc-5c4d-b5fd-895928f129bf

Gaucher disease DBS-Imp Shortname

UUID: 570121e1-8285-5693-a3e1-5114b1d8eb6c

Gaucher disease newborn screen interpretation Long Common Name Question Text

# Identifier Origin Version

UUID: 2c77f293-7c29-5b51-95a1-6a10fa2db04d

62312-4 LOINC 2.56

UUID: a1622836-1be0-51e2-893b-3d01d0a04b65

7kRzakxLnQG NLM CDEs 12-02-2025-download