Version 2.78

Fully-Specified Name

Component
Fabry disease
Property
Imp
Time
Pt
System
Bld.dot
Scale
Nom
Method

Additional Names

Short Name
Fabry disease DBS-Imp
Display Name
Fabry disease (DBS) [Interp]
Consumer Name Alpha Get Info
Fabry disease, Dried blood spot

Preferred Answer List: LL840-0

Source: Regenstrief Institute
Answer Code Score Answer ID
In range LA18592-8
Borderline LA4259-3
IndeterminateCopyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) LA11884-6
Out of range LA18593-6
Out of range requiring further dried blood spot testing for at least one condition LA12430-7
Out of range requiring immediate referral LA25817-0
Out of range requiring immediate second-tier testing for at least one condition LA12431-5
Out of range requiring deferred follow-up for at least one condition LA18594-4
One or more tests pending LA16204-2
Specimen unsatisfactory for at least one condition LA16205-9

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.56
Change Reason
Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
62300-9 Lysosomal storage disorders newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Enfemedad de Fabry:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX Spanish (Mexico) Enfermedad de Fabry:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-CA French (Canada) Maladie de Fabry:Impression:Temps ponctuel:Sang sur papier filtre:Nominal:
fr-FR French (France) Maladie de Fabry:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
fr-BE French (Belgium) Maladie de Fabry:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT Italian (Italy) Malattia di Fabry:Imp:Pt:Sangue.su carta da filtro:Nom:
Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) ziekte van Fabry:interpretatie:moment:gedroogde bloedspot:nominaal:
pt-BR Portuguese (Brazil) Doença de Fabry::Pt:SgPapel:Nom:
ru-RU Russian (Russian Federation) Фабри болезнь:Впчт:ТчкВрм:Кр.Сух.капл:Ном:
Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR Turkish (Turkey) Fabry hastalığı:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN Chinese (China) 法布里病:印象:时间点:全血.斑点:名义型:
Synonyms: 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 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 印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 时刻;随机;随意;瞬间 法布莱病;Fabry 病 疾 病 症 血;血液

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=62305-8