Version 2.78

62312-4 Gaucher disease newborn screen interpretation

Observation Required in Panel

Required

Fully-Specified Name

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

Additional Names

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

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

Preferred Answer List LL840-0

Answer Code Score Answer ID
In range LA18592-8
Borderline LA4259-3
Indeterminate Copyright 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

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 Gaucher:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX Spanish (Mexico) Enfermedad de Gaucher:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-FR French (France) Maladie de Gaucher:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
it-IT Italian (Italy) Malattia di Gaucher: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 Gaucher:interpretatie:moment:gedroogde bloedspot:nominaal:
pt-BR Portuguese (Brazil) Doença de Gaucher::Pt:SgPapel:Nom:
ru-RU Russian (Russian Federation) Гоше 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) Gaucher hastalığı:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN Chinese (China) 戈谢病:印象:时间点:全血.斑点:名义型:
Synonyms: Gaucher 病;高雪病;Gaucher disease;GD 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 疾 病 症 血;血液

62313-2 Gaucher disease newborn screening comment-discussion

Observation Required in Panel

Conditional

Fully-Specified Name

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

Additional Names

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

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.34
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-MX Spanish (Mexico) Comentario-discusión sobre la detección del recién nacido de la enfermedad de Gaucher:Texto:Punto temporal:DBS:Narrativo:
es-ES Spanish (Spain) Enfermedad de Gaucher screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
fr-FR French (France) Maladie de Gaucher dépistage néonatal (commentaire-discussion):Texte:Ponctuel:Sang buvard:Résultat textuel:
it-IT Italian (Italy) Malattia di Gaucher, screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar:
Synonyms: Chimica Commento-discussione di screening neonatale per malattia di Gaucher Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NL Dutch (Netherlands) ziekte van Gaucher screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel:
pt-BR Portuguese (Brazil) Doença de Gaucher triagem neonatal comentários-discussão::Pt:SgPapel:Nar:
ru-RU Russian (Russian Federation) Гоше 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) Gaucher hastalığı yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN Chinese (China) 戈谢病 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: Asympt Gaucher 病;高雪病;Gaucher disease;GD 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 戈谢病新生儿筛查注释/讨论 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

55917-9 Glucosylceramidase [Enzymatic activity/volume] in DBS

Part Descriptions

LP15604-9   Glucosylceramidase
A glycosidase that hydrolyzes a glucosylceramide to yield free ceramide plus glucose. Deficiency of this enzyme leads to abnormally high concentrations of glucosylceramide in the brain in GAUCHER DISEASE. EC 3.2.1.45. Source: National Library of Medicine, MeSH 2006

Reference Information

Type Source Reference
Article National Library of Medicine Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May;13(5):457-84. [PMID: 21502868] Genet Med

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Glucosylceramidase
Property
CCnc
Time
Pt
System
Bld.dot
Scale
Qn
Method

Additional Names

Short Name
Glucosylceramidase DBS-cCnc
Display Name
Glucosylceramidase (DBS) [Catalytic activity/Vol]
Consumer Name Alpha Get Info
Glucosylceramidase, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.29
Last Updated
Version 2.70
Change Reason
Updated Component from "Acid beta glucosidase" per the recommended nomenclature [UniProt: P04062]
Order vs. Observation
Both

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
105458-4 Lysosomal and peroxisomal storage disorders panel - DBS
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
de-DE German (Germany) Beta-Glucosidase:Katalytische Konzentration:Zeitpunkt:Blut.Tropfen:Quantitativ:
es-MX Spanish (Mexico) Glucosilceramidasa:Concentración catalítica:Punto temporal:DBS:Cuantitativo:
es-ES Spanish (Spain) Glucosilceramidasa:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
et-EE Estonian (Estonia) Glükosüülkeramidaas:CCnc:Pt:Vereplekk:Qn:
Synonyms: Juhuslik Kvantitatiivne Veri
fr-CA French (Canada) Glucosylcéramidase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR French (France) Glucosylcéramidase:Catalytique/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE French (Belgium) Glucosylcéramidase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT Italian (Italy) Glucosilceramidasi:CCnC:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) glucosylceramidase:enzymatische activiteit/volume:moment:gedroogde bloedspot:kwantitatief:
pl-PL Polish (Poland) Ceramidaza glukozylowa:stężenie katalityczne:punkt w czasie:sucha kropla krwi:ilościowy:
Synonyms: Ceramidaza glukozylowa
pt-BR Portuguese (Brazil) Beta glucosidase:#N/A:Pt:SgPapel:Qn:
Synonyms: Glucoinvertase; Glucosidosucrase; Maltase; Maltase-glucoamylase; B-Glucosidase; Gaucher disease; Glucocerebrosidase; Catalytic Concentration; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; B; Chemistry
ru-RU Russian (Russian Federation) Глюкозилцерамидаза:КаталКонц:ТчкВрм:Кр.Сух.капл:Колич:
Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени;Момент
tr-TR Turkish (Turkey) Glukozilseramidaz:KtlKons:Zmlı:Kan.nokta:Kant:
zh-CN Chinese (China) 葡糖神经酰胺酶:催化浓度:时间点:全血.斑点:定量型:
Synonyms: Beta 葡糖脑苷脂酶;Beta-葡糖脑苷脂酶;B-葡糖脑苷脂酶;β-葡糖脑苷脂酶;葡糖基神经酰胺酶;葡糖基苷酰鞘氨醇酶;葡萄糖基神经酰胺酶 催化浓度(单位体积);单位体积内酶的单位数 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 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 时刻;随机;随意;瞬间 血;血液

Example Units

Unit Source
umol/L/h Example UCUM Units