NIH Common Data Elements (CDE) Repository

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

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)

Key:

RELATED NAMES

Value:

Key:

Fully-Specified Name

Value:

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

Key:

BASIC ATTRIBUTES

Value:

Class/Type	Panel Type	Created On	Last Updated in Version	Order vs Obs	Status
PANEL.CHEM/Lab	Panel	2015/11/18	2.54	Order	Active

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.