Basic Part Properties

Part Name
Pompe disease newborn screening panel
Part Display Name
Pompe disease newborn screening panel
Part Type
Component (Describes the core component or analyte measured)
Created On
2011-01-26
Construct for LOINC Short Name
Pompe disease NBS pnl

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP113710-0

Language Variants Get Info

TagLanguageTranslation
zh-CNChinese (China)庞贝病新生儿筛查组套
Synonyms: 庞贝病新生儿(NB)筛查(筛选、过筛、筛检)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);庞贝病新生儿筛查组合;II型糖原累积病新生儿筛查医嘱组;酸性麦芽糖酶缺乏症新生儿筛查医嘱组;Pompe 病新生儿筛查医嘱组;Ⅱ型糖原累积病;glycogen storage disease typeⅡ;GSDⅡ;酸性麦芽糖酶缺乏症;Pompe病;庞贝病;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
es-ESSpanish (Spain)Panel screening de la enfermedad de Pompe en recien nacidos
it-ITItalian (Italy)Morbo di Pompe, panel screening neonatale
Synonyms: Panel screening neonatale per morbo di Pompe
tr-TRTurkish (Turkey)Pompe hastalığı yenidoğan tarama paneli
ru-RURussian (Russian Federation)Помпе болезнь новорожденных скрининг панель
nl-NLDutch (Netherlands)ziekte van Pompe pasgeborene screening panel
fr-FRFrench (France)Maladie de Pompe dépistage néonatal panel
el-GRGreek (Greece)Πίνακας εξετάσεων διαλογής νεογνών για τη νόσο Pompe
Synonyms: Πίνακας εξετάσεων διαλογής νεογνών για τη νόσο Pompe