Carnitine biosynthesis intermediates pattern:Imp:Pt:Bld.dot:Nar:

Preferred Label : Carnitine biosynthesis intermediates pattern:Imp:Pt:Bld.dot:Nar:;

LOINC status : ACTIVE;

LOINC display name : Carnitine biosynthesis intermediates pattern Nar (DBS) [Interp];

LOINC long common name : Carnitine biosynthesis intermediates pattern newborn screen interpretation;

LOINC short name : Carnitine biosynthesis pattern DBS-Imp;

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.;

Details

Origin ID

79339-8;

UMLS CUI

C4070265;

Has component
- Carnitine [LOINC component]
- Carnitine biosynthesis intermediates pattern [LOINC component]
Has property
- Impression/interpretation of study [LOINC Property]
Has scale
- Nar [LOINC scale]
Has system
- Blood [LOINC System]
- DBS [LOINC System]
Has time aspect
- Point in time (spot) [LOINC time aspect]
Part of panel
- Carnitine biosynthesis intermediates panel:-:Pt:Bld.dot:-: [LOINC code]
Semantic type(s)
- Clinical Attribute [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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