79563-3
Mucopolysaccharidosis type I newborn screening panel
Active
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)
- Consumer Name Alpha
- Mucopolysaccharidosis Type I NBS Panel, Dried blood spot
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
Tag | Language | Translation |
---|---|---|
zh-CN | Chinese (China) | 粘多糖贮积症 I 型新生儿筛查组套: Synonyms: |
es-ES | Spanish (Spain) | Panel de cribado neonatal Mucopolisacaridosis tipo I: |
it-IT | Italian (Italy) | Mucopolisaccaridosi tipologia 1 screening neonatale, panel: Synonyms: |
fr-FR | French (France) | Mucopolysaccharidoses type I dépistage néonatal panel: |
nl-NL | Dutch (Netherlands) | mucopolysaccharidose type I pasgeborene screening panel: Synonyms: |
es-MX | Spanish (Mexico) | Panel de cribado neonatal de mucopolisacaridosis tipo I: |
LOINC Terminology Service (API) using HL7® FHIR®
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=79563-3 - Questionnaire definition
- https:
//fhir.loinc.org/Questionnaire/?url=http: //loinc.org/q/79563-3
LOINC Copyright
Copyright © 2023 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright