Version 2.78

Fully-Specified Name

Component
Pompe disease newborn screening comment-discussion
Property
Txt
Time
Pt
System
Bld.dot
Scale
Nar
Method

Additional Names

Short Name
Pompe disease NBS comment
Display Name
Pompe disease newborn screening comment-discussion Nar (DBS)
Consumer Name Alpha Get Info
Pompe disease newborn screening comment-discussion, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.36
Last Updated
Version 2.42
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) Enfermedad de Pompe screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX Spanish (Mexico) Comentario-discusión del cribado neonatal de la enfermedad de Pompe:Texto:Punto temporal:DBS:Narrativo:
fr-FR French (France) Maladie de Pompe dépistage néonatal (commentaire-discussion):Texte:Ponctuel:Sang buvard:Résultat textuel:
it-IT Italian (Italy) Morbo di Pompe, screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar:
Synonyms: Chimica Commento-discussione di screening neonatale per morbo di Pompe Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NL Dutch (Netherlands) ziekte van Pompe screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel:
ru-RU Russian (Russian Federation) Помпе болезнь новорожденный скрининг комментарий-дискуссия:Txt:ТчкВрм:Кр.Сух.капл:Опис:
Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени;Момент
tr-TR Turkish (Turkey) Pompe hastalığı yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN Chinese (China) 庞贝病 新生儿筛查注释-讨论:文本型属性:时间点:全血.斑点:叙述型:
Synonyms: Ⅱ型糖原累积病;glycogen storage disease typeⅡ;GSDⅡ;酸性麦芽糖酶缺乏症;Pompe病;属于常染色体隐性遗传性疾病,是由于酸性α-糖苷酶的缺乏,导致溶酶体内的糖原分解障碍并大量贮积而致病 Asympt SCN 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 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 叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型 备注 备注;评论;注解;说明;评语 庞贝病新生儿筛查注释/讨论 意见 文本;文本型;文本属性 新生儿（NB）筛查（筛选、过筛、筛检）注释（备注、评论）-讨论 无症状 无症状（Asymptomatic，Asympt） 无症状的 无症状筛查 时刻;随机;随意;瞬间 普查 普查试验 注解 疾 病 症 短评 筛分 筛分试验 筛查（Screening，SCN） 筛查试验 筛选 筛选试验 血;血液 解说 解释 评定 评注 评论 评语 说明

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=63416-2