Mucopolysaccharidosis type I newborn screening panel

General Details:

Name:
Mucopolysaccharidosis type I newborn screening panel
Steward:
NLM
Definition:
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.
Registration Status:
Qualified

Designations:

Designation:
Mucopolysaccharidosis type I newborn screening panel
Tags:
Long Common Name
Designation:
MPS I NBS Pnl DBS
Tags:
Shortname

Designations:

Definition:
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.
Tags:
TERM DEFINITION/DESCRIPTION(S)

Properties:

Key:
RELATED NAMES
Value:
alpha-L-IduronidaseIDUAPanl
AsymptMPS IPnl
AsymptomaticMPS I NBS PnlPoint in time
BloodMPS-IRandom
ChemistryNB Screen PnlScn
DBSNBSWB
Dried blood spotNew bornWhole blood
Filter paperPan
FPPANEL.CHEMISTRY
Key:
Fully-Specified Name
Value:
ComponentPropertyTimeSystemScaleMethod
Mucopolysaccharidosis type I newborn screening panel-PtBld.dot-
Key:
BASIC ATTRIBUTES
Value:
Class/TypePanel TypeCreated OnLast Updated in VersionOrder vs ObsStatus
PANEL.CHEM/LabPanel2015/11/182.54OrderActive
Key:
LOINC_Copyright
Value:
This material contains content from LOINC® (http://loinc.org). The LOINC table, LOINC codes, LOINC panels and forms file, LOINC linguistic variants file, LOINC/RSNA Radiology Playbook, and LOINC/IEEE Medical Device Code Mapping Table are copyright © 1995-2017, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license at http://loinc.org/terms-of-use.
Key:
PublicDomain
Value:
true

Identifiers:

Source:
NLM
Id:
71_Go6M68f
Version:
Source:
LOINC
Id:
79563-3
Version:
2.56