Lysosomal storage disorders newborn screening panel

General Details:

Name:
Lysosomal storage disorders newborn screening panel
Steward:
NLM
Registration Status:
Qualified

Designations:

Designation:
Lysosomal storage disorders newborn screening panel
Tags:
Long Common Name
Designation:
LSD NBS pnl DBS
Tags:
Shortname

Reference Documents:

ID:
Title:
Description: Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May;13(5):457-84. [PMID: 21502868]
URI:
http://journals.lww.com/geneticsinmedicine/Fulltext/2011/05000/Lysosomal_storage_diseases__Diagnostic.15.aspx
Provider Org:
Source: National Library of Medicine, URL: Genet Med
Language Code:
Document:
http://www.ncbi.nlm.nih.gov/pubmed/21502868

Properties:

Key:
RELATED NAMES
Value:
AsymptLSDPnl
AsymptomaticLSD NBS pnlPoint in time
BloodNB Screen PnlRandom
ChemistryNBSScn
DBSNew bornWB
Dried blood spotPanWhole blood
Filter paperPANEL.CHEMISTRY
FPPanl
Key:
Fully-Specified Name
Value:
ComponentPropertyTimeSystemScaleMethod
Lysosomal storage disorders newborn screening panel-PtBld.dot-
Key:
BASIC ATTRIBUTES
Value:
Class/TypePanel TypeCreated OnLast Updated in VersionOrder vs ObsStatus
PANEL.CHEM/LabPanel2010/11/222.40OrderActive
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:
Q17GjaMaLf
Version:
Source:
LOINC
Id:
62300-9
Version:
2.56