| Name | Steward Organization | Suggested Domain | Suggested Domain Description | Cde Group | Classification |
|---|---|---|---|---|---|
| ABCD1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | NLM | Biomarkers, genetics, and genomics |
Biomarkers, genetics, and genomics relevant to AD/ADRD |
NIH CDEs |
|
| # | Datatype |
|---|---|
|
|
Value List |
| # | Permissible value | Value meaning name | Value meaning code | Code system name |
|---|---|---|---|---|
|
|
c.1165C>T | c.1165C>T | LA25407-0 | LOINC |
|
|
c.1202G>A | c.1202G>A | LA25408-8 | LOINC |
|
|
c.1415_1416delAG | c.1415_1416delAG | LA25405-4 | LOINC |
|
|
c.871G>A | c.871G>A | LA25406-2 | LOINC |
| # | Name | Origin | Origin | Concept type |
|---|---|---|---|---|
|
|
ABCD1 gene | LOINC - Part - Component | LP71403-7 | object |
|
|
targeted mutation analysis | LOINC - Part - Suffix | LP32419-1 | property |
|
|
Molgen [Molecular genetics] | LOINC - Part - Method | LP6404-0 | property |
|
|
Mutation | LOINC - Part - Fragments for synonyms | LP32514-9 | property |
|
|
Pt [Point in time (spot)] | LOINC - Part - Time | LP6960-1 | property |
|
|
Bld/Tiss [Blood or Tissue] | LOINC - Part - System | LP7061-7 | property |
|
|
Nom | LOINC - Part - Scale | LP7750-5 | property |
|
|
Prid [Presence or Identity] | LOINC - Part - Property | LP6850-4 | property |
| # | Designation | Tags |
|---|---|---|
|
|
ABCD1 gene Mut Anal Bld/T | Shortname |
|
|
ABCD1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | Long Common Name Question Text |
| # | Identifier | Origin | Version |
|---|---|---|---|
|
|
79568-2 | LOINC | 2.56 |
|
|
Xkh73klInQf | NLM CDEs | 12-02-2025-download |