Mucopolysaccharidosis type I newborn screening panel 79563-3
LOINC Code
LOINC code
79563-3
name
Mucopolysaccharidosis type I newborn screening panel
description
The Mucopolysaccharidosis type I (MPS I) newborn screening panel is used to report the results of newborn screening for the diagnosis of MPS I, also known as Hurler syndrome, an inherited disorder in which the body is unable to produce an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). MPS I is caused by mutations in the IDUA gene and has an autosomal recessive pattern of inheritance.
status
ACTIVE
Fully-Specified Name
component
Mucopolysaccharidosis type I newborn screening panel
property
-
time
Pt = Point in time: To identify measures at a point in time. This is a synonym for “spot” or “random” as applied to urine measurements.
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.
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