Version 2.78

Basic Properties

OID
1.3.6.1.4.1.12009.10.1.1851
Name
Metabolic disorder being monitored
Description
NBS type of metabolic disorder being monitored
LOINCs using this list
1

Answer List

Answer Code Score Answer ID
Argininemia LA21161-7
Argininosuccinic aciduria LA21162-5
Carnitine uptake defect LA21163-3
Citrullinemia, type ICopyright http://snomed.info/sct ID:398680004 Citrullinemia (disorder) LA12482-8
Classical galactosemia LA21165-8
Gyrate atrophy LA21166-6
HyperphenylalaninemiaCopyright http://snomed.info/sct ID:68528007 Hyperphenylalaninemia (disorder) LA21167-4
Maple syrup urine diseaseCopyright http://snomed.info/sct ID:27718001 Maple syrup urine disease (disorder) LA21168-2
Phenylketonuria LA21169-0
Tyrosinemia type ICopyright http://snomed.info/sct ID:410056006 Tyrosinemia type I (disorder) LA21170-8
Tyrosinemia type II LA21171-6
Tyrosinemia type IIICopyright http://snomed.info/sct ID:415764005 Tyrosinemia type III (disorder) LA21172-4

LOINC terms using this Answer List

74873-1 Metabolic disorder being monitored [Identifier] in DBS

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LL2907-5
ValueSet definition
https://fhir.loinc.org/ValueSet/?url=http://loinc.org/vs/LL2907-5
ValueSet expansion
https://fhir.loinc.org/ValueSet/$expand?url=http://loinc.org/vs/LL2907-5