Palmitoyl protein thioesterase 1 & Tripeptidyl peptidase 1 panel:-:Pt:WBC:-:

Preferred Label : Palmitoyl protein thioesterase 1 & Tripeptidyl peptidase 1 panel:-:Pt:WBC:-:;

LOINC status : ACTIVE;

LOINC display name : Palmitoyl protein thioesterase 1 and Tripeptidyl peptidase 1 panel (WBC);

LOINC long common name : Palmitoyl protein thioesterase 1 and Tripeptidyl peptidase 1 panel - Leukocytes;

LOINC short name : PPT1 TPP1 Pnl WBC;

LOINC description : This panel is used to help differentiate between forms of neuronal ceroid lipufuscinoses (CLNs), which are progressive, neurodegenerative lysosomal storage diseases. CLN1 and CLN2 are caused by mutations in the PPT1 gene, which encodes palmitoyl protein thioesterase 1, and TPP1, which encodes tripeptidyl peptidase 1, respectively. Both are associated with seizures, dementia, and vision loss. [UniProt: O14773][UniProt: P50897];

Détails

Origin ID

93704-5;

UMLS CUI

C5212205;

Has component
- Palmitoyl protein thioesterase [LOINC component]
- Palmitoyl protein thioesterase 1 and Tripeptidyl peptidase 1 panel [LOINC component]
- Protein [LOINC component]
Has system
- White blood cells [LOINC System]
Has time aspect
- Point in time (spot) [LOINC time aspect]
Panel of LOINC codes
- Palmitoyl protein thioesterase:CCnt:Pt:WBC:Qn: [LOINC code]
- Tripeptidyl peptidase I:CCnt:Pt:WBC:Qn: [LOINC code]
Semantic type(s)
- Clinical Attribute [UMLS semantic type]

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

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