Hepatosplenomegaly due to lysosomal storage disorders screening panel - DBS   92745-9

LOINC Code


LOINC code92745-9
nameHepatosplenomegaly due to lysosomal storage disorders screening panel - DBS
descriptionThis panel is used to screen patients who present with hepatosplenomegaly for lysosomal and lipid storage disorders such as cerebrotendinous xanthomatosis, Gaucher disease, and Niemann-Pick diseases types A, B, and C.
statusACTIVE

Fully-Specified Name

componentHepatosplenomegaly due to lysosomal storage disorders screening panel
property-
timePt  =  Point in time:  To identify measures at a point in time. This is a synonym for “spot” or “random” as applied to urine measurements.
systemBld.dot  =  Blood filter paper
scale-
method

Additional Names

short nameHepSplenMeg Pnl DBS

Basic Attributes

classPANEL.CHEM
type1  Laboratory
order vs. observationOrder

Panel Components

92757-4Cholestane-3-beta, 5-alpha, 6-beta triol [Moles/volume] in DBS
92757-4Cholestane-3-beta, 5-alpha, 6-beta triol [Moles/volume] in DBS
92749-1Lyso-sphingomyelin [Moles/volume] in DBS
92752-5Glucopsychosine [Moles/volume] in DBS
92763-27-Alpha hydroxy-4-cholesten-3-one [Moles/volume] in DBS
92760-87-Alpha,12-alpha dihydroxycholest-4-en-3-one [Moles/volume] in DBS
92754-1Globotriaosylsphingosine [Moles/volume] in DBS

Associated Observations

LOINC codes that represent optional associated observation(s) for a clinical observation or laboratory test. A LOINC term may represent a single associated observation or panel containing several associated observations.

History/Usage

first released
last updated2.66
last change typeADD  - added

Related Names

Asympt
Asymptomatic
Blood
Chemistry
DBS
Dried blood spot
Filter paper
FP
HepSplenMeg Pnl
LSD
Pan
PANEL.CHEMISTRY
Panl
Pnl
Point in time
Random
Scn
WB
Whole blood

Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2024, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.

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