Version 2.78

Term Description

This term is for a test is to rule out multiple sulfatase deficiency i.e., iduronate-2- sulfatase, heparan-N-sulfatase, N-acetylgalactosamine-6-sulfatase, N-acetylglucosamine-6-sulfatase,
Source: Regenstrief LOINC

Fully-Specified Name

Component
Multiple sulfatase deficiency
Property
CCnc
Time
Pt
System
Bld.dot
Scale
Qn
Method

Additional Names

Short Name
Multiple sulfatase deficiency DBS-cCnc
Display Name
Multiple sulfatase deficiency (DBS) [Catalytic activity/Vol]
Consumer Name Alpha Get Info
Multiple sulfatase deficiency, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.77
Last Updated
Version 2.78
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Deficiencia de sulfatasa múltiple:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
it-IT Italian (Italy) Malattia di Austin:CCnC:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione Catalitica Deficienza multipla di solfatasi;mucosolfatidosi;DMS Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) multipele sulfatasedeficiëntie:enzymatische activiteit/volume:moment:gedroogde bloedspot:kwantitatief:

Example Units

Unit Source
umol/h/L Example UCUM Units

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=104116-9