Name Steward Organization Suggested Domain Suggested Domain Description Cde Group Classification
CFTR gene mutations found [Identifier] in Dried blood spot Nominal NLM Biomarkers, genetics, and genomics
Biomarkers, genetics, and genomics relevant to AD/ADRD
 NIH CDEs
  • ▼ NLM
    • ▼ Newborn Screening
      • ▼ Classification
        • Gene mutation

# Datatype

UUID: d081be9d-33b3-50d3-adf7-b1b3807471e0

Text

# Name Origin Origin Concept type

UUID: db98815e-00cd-5d3c-b6d4-27a8b3d6c231

targeted mutation analysis LOINC - Part - Suffix LP32419-1 property

UUID: 6e1eea31-547d-51ca-8040-4e86be2094be

CFTR gene LOINC - Part - Component LP19684-7 object

UUID: 3b4c8c70-8257-5baa-b750-313a574d8fa1

Mutation LOINC - Part - Fragments for synonyms LP32514-9 property

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

Nom LOINC - Part - Scale LP7750-5 property

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

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

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

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

UUID: 33f1ebf1-1cf6-55f5-a41b-3d432f7f49a9

Prid [Presence or Identity] LOINC - Part - Property LP6850-4 property

# Designation Tags

UUID: 72d40e14-83b0-551e-b923-27c101cec60e

CFTR gene mutations found [Identifier] in Dried blood spot Nominal Long Common Name Question Text

UUID: 60582322-0b35-5549-b92b-bcd63c501ea0

CFTR Mut Anal DBS Shortname

# Identifier Origin Version

UUID: dc091736-4cf9-55c5-8ae2-5b3ace62169e

54083-1 LOINC 2.56

UUID: 2f874422-f9a4-5bfc-9f03-9ba3a44d91e4

71Lb6keIhmf NLM CDEs 12-02-2025-download