Carnitine biosynthesis intermediates panel:-:Pt:Urine:-:

Preferred Label : Carnitine biosynthesis intermediates panel:-:Pt:Urine:-:;

LOINC status : ACTIVE;

LOINC display name : Carnitine biosynthesis intermediates panel (U);

LOINC long common name : Carnitine biosynthesis intermediates panel - Urine;

LOINC short name : Carnitine biosynthesis Panel Ur;

LOINC description : The carnitine biosynthesis intermediates panel in DBS is performed for the diagnosis of carnitine biosynthesis disorders, including X-linked trimethyllysine hydroxylase (TMLHE) deficiency, a disorder of carnitine metabolism that is associated with autism.;

Détails

Origin ID

79287-9;

UMLS CUI

C4070316;

Has component
- Carnitine [LOINC component]
- Carnitine biosynthesis intermediates panel [LOINC component]
Has system
- Urine [LOINC System]
Has time aspect
- Point in time (spot) [LOINC time aspect]
Panel of LOINC codes
- 3-Hydroxytrimethyl-L-lysine/Creatinine:SRto:Pt:Urine:Qn: [LOINC code]
- 3-Hydroxytrimethyl-L-lysine/Trimethyllysine:SRto:Pt:Urine:Qn: [LOINC code]
- Carnitine biosynthesis intermediates pattern:Imp:Pt:Urine:Nar: [LOINC code]
- Carnitine.free (C0)/Creatinine:Ratio:Pt:Urine:Qn: [LOINC code]
- Carnitine.free (C0):SCnc:Pt:Urine:Qn: [LOINC code]
- Gamma butyrobetaine/Creatinine:SRto:Pt:Urine:Qn: [LOINC code]
- Gamma butyrobetaine/Trimethyllysine:SRto:Pt:Urine:Qn: [LOINC code]
- Trimethyllysine/Creatinine:SRto:Pt:Urine:Qn: [LOINC code]
Semantic type(s)
- Clinical Attribute [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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