LOINC
Version 2.67

79563-3Mucopolysaccharidosis type I newborn screening panelActive

Term 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.
Source: Regenstrief LOINC

Panel Hierarchy
Details for each LOINC in Panel LHC-Forms

LOINC Name R/O/C Cardinality Example UCUM Units
79563-3 Mucopolysaccharidosis type I newborn screening panel
Indent55909-6 Alpha-L-iduronidase [Enzymatic activity/volume] in DBS umol/h/L
Indent79564-1 Mucopolysaccharidosis type I newborn screen interpretation
Indent79565-8 Mucopolysaccharidosis type I newborn screening comment-discussion

Fully-Specified Name

Component
Mucopolysaccharidosis type I newborn screening panel
Property
-
Time
Pt
System
Bld.dot
Scale
-
Method

Additional Names

Short Name
MPS I NBS Pnl DBS
Display Name
Mucopolysaccharidosis type I NBS panel (DBS)

Basic Attributes

Class
PANEL.CHEM
Type
Laboratory
First Released
Version 2.54
Last Updated
Version 2.54
Order vs. Observation
Order
Panel Type
Panel

Member of these Panels

LOINC Long Common Name
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

zh-CNChinese (CHINA)
粘多糖贮积症 I 型新生儿筛查组套:-:时间点:全血.斑点:-:
nl-NLDutch (NETHERLANDS)
mucopolysaccharidose type I pasgeborene screening panel:-:moment:gedroogde bloedspot:-:
fr-FRFrench (FRANCE)
Mucopolysaccharidosis type I newborn screening panel:-:Pt:Bld.dot:-:
it-ITItalian (ITALY)
Mucopolisaccaridosi tipologia 1 screening neonatale, panel:-:Pt:Sangue.su carta da filtro:-:
es-ESSpanish (SPAIN)
Panel de cribado neonatal Mucopolisacaridosis tipo I:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=79563-3