Version 2.80

Part Description

LP111174-1   Lysosomal storage disorders
Lysosomal storage diseases (LSDs) are a group of approximately 40 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomal storage diseases result when a specific organelle in the body's cells - the lysosome - malfunctions.

Tay-Sachs disease was the first of these disorders to be described, followed by Gaucher disease.

Lysosomal storage disorders are caused by lysosomal dysfunction usually as a consequence of deficiency of a single enzyme required for the metabolism of lipids, glycoproteins (sugar containing proteins) or so-called mucopolysaccharides. Individually, LSDs occur with incidences of less than 1:100.000, however, as a group the incidence is about 1:5000 - 1:10.000. Most of these disorders are autosomal recessively inherited, however a few are X-linked recessively inherited, such as Fabry disease and Hunter syndrome (MPS II). Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia , Wikipedia

Fully-Specified Name

Component
Lysosomal storage disorders newborn screening comment-discussion
Property
Txt
Time
Pt
System
Bld.dot
Scale
Nar
Method

Additional Names

Long Common Name
Lysosomal storage disorders newborn screening comment-discussion
Short Name
LSD NBS comment
Display Name
Lysosomal storage disorders newborn screening comment-discussion Nar (DBS)
Consumer Name Alpha Get Info
Lysosomal storage disorders newborn screening comment-discussion, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.42 (MIN)
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
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
el-GR Greek (Greece) Διαταραχές λυσοσωμικής αποθήκευσης εξετάσεις διαλογής νεογνών, σχολιασμός-συζήτηση:Txt:Pt:Bld.dot:Nar:
Synonyms: Txt Διαταραχές λυσοσωμικής αποθήκευσης Σχόλιο
es-ES Spanish (Spain) Trastornos de almacenamiento lisosomal screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX Spanish (Mexico) Trastornos por almacenamiento lisosómico cribado neonatal comentario / discusión:Texto:Punto temporal:DBS:Narrativo:
fr-FR French (France) Maladies lysosomales dépistage néonatal (commentaire-discussion):Texte:Ponctuel:Sang buvard:Résultat textuel:
fr-BE French (Belgium) Lysosomes.Maladie stockage. Commentaires.screening néonatal.discussion:Texte:Temps ponctuel:Sang sur papier filtre:Narratif:
it-IT Italian (Italy) Disturbo da accumulo lisosomiale, screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar:
Synonyms: Chimica Commento-discussione di screening neonatale per disturbo da accumulo lisosomiale Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NL Dutch (Netherlands) lysosomale stapelingsziekte screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel:
pt-BR Portuguese (Brazil) Doenças de depósito lisossômico triagem neonatal comentários-discussão::Pt:SgPapel:Nar:
ru-RU Russian (Russian Federation) Лизосомальные болезни накопления 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) Lizozomal depo bozukluğu yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN Chinese (China) 溶酶体贮积症 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 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 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 溶酶体累积病;lysosomal storage diseases;溶酶体贮积病;溶酶体储积疾病;Lysosomal storage disorders 溶酶体贮积症新生儿筛查注释/讨论 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=62303-3