Version 2.80

Term Description

Mucopolysaccharidoses (MPSs) are rare genetic disorders of glycosaminoglycan (GAG) catabolism caused by a deficiency in the activity of a single, specific lysosomal enzyme required for GAG degradation. GAGs include dermatan sulfate, heparan sulfate, keratan sulfate, and chondroitin sulfate.
MPS patients have elevated GAG fragments in blood, urine and cerebral spinal fluid (CSF) as well as a buildup of incompletely degraded GAG in lysomes. The GAG accumulation interferes with normal cell, tissue and organ function, which may result in cardiac abnormalities, organ failure, cognitive impairment, and skeletal or joint abnormalities.

There are nine primary MPS disorders, MPS I - MPS IX. Each type is associated with a specific enzyme deficiency and gene locus.

Measuring GAG levels in urine can screen for MPS disorders, though false-negatives are common. To distinguish specific MPS disorders, enzyme activity assays based on cultured fibroblasts, leucocytes, plasma or serum are utilized. Predicting MPS disease severity is difficult for most types, however, patients who are homozygous for a nonsense allele or have two different nonsense alleles have the severe form of MPS I. PMID: 22210669

Panel Hierarchy

Details for each LOINC in Panel LHC-Forms

LOINC Name R/O/C Cardinality Example UCUM Units
93726-8 Dermatan sulfate and heparan sulfate and keratan sulfate panel - Serum or Plasma
Indent2203-8 Dermatan sulfate [Mass/volume] in Serum or Plasma
Indent93725-0 Heparan sulfate [Mass/volume] in Serum or Plasma ng/mL
Indent93724-3 Keratan sulfate [Mass/volume] in Serum or Plasma ng/mL

Fully-Specified Name

Component
Dermatan sulfate & heparan sulfate & keratan sulfate panel
Property
-
Time
Pt
System
Ser/Plas
Scale
-
Method

Additional Names

Long Common Name
Dermatan sulfate and heparan sulfate and keratan sulfate panel - Serum or Plasma
Short Name
MPS panel SerPl
Display Name
Dermatan sulfate & heparan sulfate & keratan sulfate panel
Consumer Name Alpha Get Info
Dermatan sulfate & heparan sulfate & keratan sulfate panel, Blood

Basic Attributes

Class
PANEL.CHEM
Type
Laboratory
First Released
Version 2.67
Last Updated
Version 2.67 (ADD)
Order vs. Observation
Order
Panel Type
Panel

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Πίνακας θειικής δερματάνης & θειικής ηπαράνης & θειικής κερατάνης:-:Pt:Ορός/Πλάσμα:-:
Synonyms: Θειικά άλατα Θειική δερματάνη Θειική ηπαράνη Θειική κερατάνη Πίνακας θειικής δερματάνης & θειικής ηπαράνης & θειικής κερατάνης
es-ES Spanish (Spain) Panel de dermatán-sulfato, heparán-sulfato y queratán-sulfato:Propiedades mixtas (sólo paneles):Punto temporal:Suero o Plasma:-:
es-MX Spanish (Mexico) Panel de sulfato de dermatán y sulfato de heparán y sulfato de queratán:-:Punto temporal:Suero o Plasma:-:
fr-FR French (France) Dermatane sulfate et héparane sulfate et kératane sulfate panel:-:Ponctuel:Sérum/Plasma:-:
it-IT Italian (Italy) Dermatan solfato & eparan solfato & cheratan solfato, panel:-:Pt:Siero/Plasma:-:
Synonyms: Chimica Panel dermatan solfato e eparan solfato e cheratan solfato Plasma Punto nel tempo (episodio) Set di prescrizione chimica Siero Siero o Plasma
zh-CN Chinese (China) 硫酸皮肤素 & 硫酸类肝素 & 硫酸角质素组套:-:时间点:血清/血浆:-:
Synonyms: SO4;SO4-2;Sulf;硫酸;硫酸根;硫酸盐;硫酸酯 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 多重;多重型;多重标尺类型;多重精度类型 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 时刻;随机;随意;瞬间 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 硫酸乙酰型肝素;硫酸乙酰肝素;硫酸肝素 硫酸皮肤素（硫酸软骨素 B、软骨素 B 硫酸酯） & 硫酸类肝素（硫酸乙酰型肝素、硫酸乙酰肝素、硫酸肝素） & 硫酸角质素组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目） 硫酸软骨素 B;软骨素 B 硫酸酯 组 组合 组合医嘱 组合类 组套 血清或血浆

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=93726-8
Questionnaire definition
https://fhir.loinc.org/Questionnaire/?url=http://loinc.org/q/93726-8