Version 2.78

Part Description

LP56779-9   Cystic fibrosis
An autosomal recessive genetic disease of the exocrine glands. It is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator expressed in several organs including the lung, the pancreas, the biliary system, and the sweat glands. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in airway obstruction, chronic respiratory infections, pancreatic insufficiency, maldigestion, salt depletion, and heat prostration. Source: National Library of Medicine, MeSH 2006

Fully-Specified Name

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

Additional Names

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

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.29
Last Updated
Version 2.73
Order vs. Observation
Observation
Common Test Rank Get Info
16265

Member of these Panels

LOINC Long Common Name
54078-1 Cystic fibrosis newborn screening panel
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Fibrosis quística screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX Spanish (Mexico) Comentario-discusión sobre el cribado neonatal de fibrosis quística:Texto:Punto temporal:DBS:Narrativo:
fr-FR French (France) Fibrose kystique dépistage néonatal (commentaire-discussion):Texte:Ponctuel:Sang buvard:Résultat textuel:
fr-BE French (Belgium) Mucovscidose Commentaires.screening néonatal.discussion:Texte:Temps ponctuel:Sang sur papier filtre:Narratif:
it-IT Italian (Italy) Fibrosi cistica, screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar:
Synonyms: Chimica Commento/discussione di screening neonatale per fibrosi cistica Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NL Dutch (Netherlands) cystische fibrose screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel:
Synonyms: cystic fibrosis; taaislijmziekte
pt-BR Portuguese (Brazil) Fibrose cística na triagem neonatal comentários-discussão:#N/A:Pt:SgPapel:Nar:
Synonyms: ; CF NBS comment/discussion; Cystic fibr; Remarks; Text; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Narrative; Report; SCN; Asymptomatic; Asympt; New born; Com; Comm; Commt; Comments; cmnt; cmmt; Chemistry
ru-RU Russian (Russian Federation) Кистозный фиброз новорожденный скрининг комментарий-дискуссия:Txt:ТчкВрм:Кр.Сух.капл:Опис:
Synonyms: Кровь Кровь сухая капля Муковисцидоз Описательный Текст Точка во времени;Момент
tr-TR Turkish (Turkey) Kistik fibrozis yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN Chinese (China) 囊性纤维化 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: Asympt CF;囊性纤维化（Cystic Fibrosis，CF）;囊性纤维变性;囊纤维化;囊肿性纤维化;囊肿性纤维化（属遗传性胰腺病）;囊肿状纤维化 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 囊性纤维化新生儿筛查注释/讨论 备注 备注;评论;注解;说明;评语 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 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=57707-2