| Name | Steward Organization | Suggested Domain | Suggested Domain Description | Cde Group | Classification |
|---|---|---|---|---|---|
| 3-Hydroxyisovalerylcarnitine (C5-OH)/Octanoylcarnitine (C8) [Molar ratio] in Dried blood spot | NLM | Biomarkers, genetics, and genomics |
Biomarkers, genetics, and genomics relevant to AD/ADRD |
NIH CDEs |
|
| # | Datatype |
|---|---|
|
|
Text |
| # | Name | Origin | Origin | Concept type |
|---|---|---|---|---|
|
|
Bld.dot [Dried blood spot] | LOINC - Part - System | LP21304-8 | property |
|
|
SRto [Substance Ratio] | LOINC - Part - Property | LP6868-6 | property |
|
|
Qn | LOINC - Part - Scale | LP7753-9 | property |
|
|
Pt [Point in time (spot)] | LOINC - Part - Time | LP6960-1 | property |
|
|
3 | LOINC - Part - Fragments for synonyms | LP21267-7 | property |
|
|
3-Hydroxyisovalerylcarnitine (C5-OH) | LOINC - Part - Component | LP19309-1 | object |
|
|
Octanoylcarnitine (C8) | LOINC - Part - Divisors | LP70166-1 | property |
| # | Definition | Tags |
|---|---|---|
|
|
3-Hydroxyisovalerylcarnitine/Octanoylcarnitine is a primary marker for 3-Methylcrotonyl-CoA carboxylase deficiency, Beta-Ketothiolase deficiency, Multiple carboxylase deficiency, 3-Hydroxy-3-methylglutaric aciduria, 2-Methyl-3-hydroxybutyric aciduria, Maternal 3-Methylcrotonyl-CoA carboxylase deficiency, and 2-Methylbutyrylglycinuria. | TERM DEFINITION/DESCRIPTION(S) |
| # | Designation | Tags |
|---|---|---|
|
|
3OH-Isovalerylcarn/C8 DBS-sRto | Shortname |
|
|
3-Hydroxyisovalerylcarnitine (C5-OH)/Octanoylcarnitine (C8) [Molar ratio] in Dried blood spot | Long Common Name Question Text |
| # | Identifier | Origin | Version |
|---|---|---|---|
|
|
m1eX2yeInXG | NLM CDEs | 12-02-2025-download |
|
|
53172-3 | LOINC | 2.56 |