32641-3
LaboratorySMPD1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Definition
Niemann-Pick Disease is a disorder caused by a deficiency in the enzyme, acid sphingomyelinase.
LOINC 6-Axis Classification
Component
SMPD1 gene targeted mutation analysis
Property
Prid
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Nom
Method Type
Molgen
Details
Class
MOLPATH.MUT
Order/Observation
Both
Short Name
SMPD1 gene Mut Anl Bld/T
Display Name
SMPD1 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 32641-3?
LOINC code 32641-3 identifies "SMPD1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal". Niemann-Pick Disease is a disorder caused by a deficiency in the enzyme, acid sphingomyelinase.
What does 32641-3 measure?
This code measures SMPD1 gene targeted mutation analysis in Bld/Tiss. It belongs to the MOLPATH.MUT class in the LOINC classification.
What is LOINC?
LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.