Version 2.80

62301-7 Lysosomal storage disorders newborn screen interpretation

Part Descriptions

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

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Lysosomal storage disorders
Property
Imp
Time
Pt
System
Bld.dot
Scale
Nom
Method

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.71 (MIN)
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
Borderline LA4259-3
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) LA11884-6
Out of range requiring immediate referral LA25817-0
One or more tests pending LA16204-2
Screen Negative LA34518-3
Inconclusive Copyright http://snomed.info/sct ID:419984006 Inconclusive (qualifier value) LA9663-1
Not tested LA13538-6
In range LA18592-8
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 second-tier testing for at least one condition LA12431-5
Out of range requiring deferred follow-up for at least one condition LA18594-4
Specimen unsatisfactory for at least one condition LA16205-9

Member of these Panels

LOINC Long Common Name
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
el-GR Greek (Greece) Διαταραχές λυσοσωμικής αποθήκευσης:Imp:Pt:Bld.dot:Nom:
Synonyms: Imp Διαταραχές λυσοσωμικής αποθήκευσης
es-MX Spanish (Mexico) Trastornos por almacenamiento lisosómico:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
es-ES Spanish (Spain) Trastornos de almacenamiento lisosomal:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
fr-FR French (France) Maladies lysosomales:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
fr-BE French (Belgium) Lysosomes.Maladie stockage.:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT Italian (Italy) Disturbo da accumulo lisosomiale: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) lysosomale stapelingsziekte:interpretatie:moment:gedroogde bloedspot:nominaal:
pt-BR Portuguese (Brazil) Doenças de depósito lisossômico::Pt:SgPapel:Nom:
ru-RU Russian (Russian Federation) Лизосомальные болезни накопления:Впчт:ТчкВрм:Кр.Сух.капл:Ном:
Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR Turkish (Turkey) Lizozomal depo bozukluğu:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN Chinese (China) 溶酶体贮积症:印象:时间点:全血.斑点:名义型:
Synonyms: 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 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 血;血液

62303-3 Lysosomal storage disorders newborn screening comment-discussion

Part Descriptions

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

Observation Required in Panel

Conditional

Fully-Specified Name

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

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-MX Spanish (Mexico) Trastornos por almacenamiento lisosómico cribado neonatal comentario / discusión:Texto:Punto temporal:DBS:Narrativo:
es-ES Spanish (Spain) Trastornos de almacenamiento lisosomal screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):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

62302-5 Lysosomal storage disorders suspected [Identifier] in DBS

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Lysosomal storage disorders suspected
Property
Prid
Time
Pt
System
Bld.dot
Scale
Nom
Method

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.61 (MIN)
Change Reason
Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation
Observation

Preferred Answer List LL1043-0

Answer Code Score Answer ID
Fabry disease Copyright http://snomed.info/sct ID:16652001 Fabry's disease (disorder) LA14036-0
Pompe disease Copyright http://snomed.info/sct ID:274864009 Glycogen storage disease due to acid maltase deficiency (disorder) LA14037-8
Krabbe disease Copyright http://snomed.info/sct ID:192782005 Galactosylceramide beta-galactosidase deficiency (disorder) LA14038-6
Niemann Pick disease A/B Copyright http://snomed.info/sct ID:58459009 Sphingomyelin/cholesterol lipidosis (disorder) LA14040-2
Gaucher disease Copyright http://snomed.info/sct ID:190794006 Glucosylceramide beta-glucosidase deficiency (disorder) LA14039-4
Mucopolysaccharidosis type I Copyright http://snomed.info/sct ID:75610003 Mucopolysaccharidosis type I (disorder) LA25797-4
Mucopolysaccharidosis type II (disorder) LA34470-7

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) Υποψία διαταραχών λυσοσωμικής αποθήκευσης:Prid:Pt:Bld.dot:Nom:
Synonyms: Prid Διαταραχές λυσοσωμικής αποθήκευσης Υποψία διαταραχών λυσοσωμικής αποθήκευσης
es-MX Spanish (Mexico) Se sospecha de trastornos por almacenamiento lisosómico:Presencia o identidad:Punto temporal:DBS:Nominal:
es-ES Spanish (Spain) Sospecha de trastornos de almacenamiento lisosomal:Presencia o identidad:Punto temporal:gota de sangre (papel de filtro):Nom:
fr-FR French (France) Maladies lysosomales suspectées:Identification:Ponctuel:Sang buvard:Résultat nominal:
fr-BE French (Belgium) Lysosomes.Suspicion Maladie stockage.:Présence ou identité:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT Italian (Italy) Disturbo da accumulo lisosomiale sospetto:Prid:Pt:Sangue.su carta da filtro:Nom:
Synonyms: Chimica Presenza o Identità Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) lysosomale stapelingsziekte verdenking:identificator:moment:gedroogde bloedspot:nominaal:
pt-BR Portuguese (Brazil) Suspeita de Doenças de depósito lisossômico:Ident:Pt:SgPapel:Nom:
ru-RU Russian (Russian Federation) Лизосомальные болезни накопления предполагаемые:ПрИд:ТчкВрм:Кр.Сух.капл:Ном:
Synonyms: Кровь Кровь сухая капля Номинальный;Именной Присутствие или Идентификация Точка во времени;Момент
tr-TR Turkish (Turkey) Lizozomal depo bozukluğu şüpheli:MevcKimlik:Zmlı:Kan.nokta:Snf:
zh-CN Chinese (China) 所怀疑的溶酶体贮积症:存在与否或特征标识:时间点:全血.斑点:名义型:
Synonyms: 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 存在;存在与否;特征标识;身份;身份标识 所怀疑的（已怀疑的、疑似）溶酶体贮积症（溶酶体贮积病、溶酶体储积疾病、溶酶体储存障碍、溶酶体蓄积病、溶酶体堆积病）;溶酶体贮积症;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 时刻;随机;随意;瞬间 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 血;血液

62304-1 Fabry disease newborn screening panel

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Fabry disease newborn screening panel
Property
-
Time
Pt
System
Bld.dot
Scale
-
Method

Basic Attributes

Class
PANEL.CHEM
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.77 (PANEL)
Order vs. Observation
Order
Panel Type
Panel

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) Πίνακας εξετάσεων διαλογής νεογνών για τη νόσο Fabry:-:Pt:Bld.dot:-:
Synonyms: Νόσος Fabry Πίνακας εξετάσεων διαλογής νεογνών Πίνακας εξετάσεων διαλογής νεογνών για τη νόσο Fabry
es-MX Spanish (Mexico) Panel de cribado neonatal de la enfermedad de Fabry:-:Punto temporal:DBS:-:
es-ES Spanish (Spain) Cribado de enfermedad de Fabry en recién nacido:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
fr-FR French (France) Maladie de Fabry dépistage néonatal panel:-:Ponctuel:Sang buvard:-:
it-IT Italian (Italy) Malattia di Fabry, panel screening neonatale:-:Pt:Sangue.su carta da filtro:-:
Synonyms: Chimica Panel screening neonatale Panel screening neonatale per malattia di Fabry Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco
nl-NL Dutch (Netherlands) ziekte van Fabry pasgeborene screeningspanel:-:moment:gedroogde bloedspot:-:
pt-BR Portuguese (Brazil) Doença de Fabry painel de triagem neonatal::Pt:SgPapel:-:
ru-RU Russian (Russian Federation) Фабри болезнь новорожденных скрининг панель:-:ТчкВрм:Кр.Сух.капл:-:
Synonyms: Кровь Кровь сухая капля Точка во времени;Момент
zh-CN Chinese (China) 法布里病新生儿筛查组套:-:时间点:全血.斑点:-:
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 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 多重;多重型;多重标尺类型;多重精度类型 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 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）;NB 筛查组合;NB 筛查组套;成分 - 化学 - 新生儿筛查医嘱组;成分 - 化学 - 新生儿筛查组合;成分 - 化学 - 新生儿筛查组套;新生儿筛查组合;新生儿筛查组套 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 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 法布莱病;Fabry 病 法布里病新生儿（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）;法布里病新生儿筛查组合;法布莱病新生儿筛查医嘱组;Fabry 病新生儿筛查医嘱组 疾 病 症 筛分 筛分试验 筛查（Screening，SCN） 筛查试验 筛选 筛选试验 组 组合 组合医嘱 组合类 组套 血;血液

62305-8 Fabry disease newborn screen interpretation

Observation Required in Panel

Required

Fully-Specified Name

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

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.56 (MIN)
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
Borderline LA4259-3
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) LA11884-6
Out of range requiring immediate referral LA25817-0
One or more tests pending LA16204-2
Screen Negative LA34518-3
Inconclusive Copyright http://snomed.info/sct ID:419984006 Inconclusive (qualifier value) LA9663-1
Not tested LA13538-6
In range LA18592-8
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 second-tier testing for at least one condition LA12431-5
Out of range requiring deferred follow-up for at least one condition LA18594-4
Specimen unsatisfactory for at least one condition LA16205-9

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) Νόσος Fabry:Imp:Pt:Bld.dot:Nom:
Synonyms: Imp Νόσος Fabry
es-MX Spanish (Mexico) Enfermedad de Fabry:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
es-ES Spanish (Spain) Enfemedad de Fabry:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
fr-CA French (Canada) Maladie de Fabry:Impression:Temps ponctuel:Sang sur papier filtre:Nominal:
fr-FR French (France) Maladie de Fabry:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
fr-BE French (Belgium) Maladie de Fabry:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT Italian (Italy) Malattia di Fabry: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 Fabry:interpretatie:moment:gedroogde bloedspot:nominaal:
pt-BR Portuguese (Brazil) Doença de Fabry::Pt:SgPapel:Nom:
ru-RU Russian (Russian Federation) Фабри 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) Fabry hastalığı:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN Chinese (China) 法布里病:印象:时间点:全血.斑点:名义型:
Synonyms: 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 法布莱病;Fabry 病 疾 病 症 血;血液

62306-6 Fabry disease newborn screening comment-discussion

Observation Required in Panel

Conditional

Fully-Specified Name

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

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) Νόσος Fabry εξετάσεις διαλογής νεογνών, σχολιασμός-συζήτηση:Txt:Pt:Bld.dot:Nar:
Synonyms: Txt Νόσος Fabry Σχόλιο
es-MX Spanish (Mexico) Comentario-discusión sobre la detección del recién nacido de la enfermedad de Fabry:Texto:Punto temporal:DBS:Narrativo:
es-ES Spanish (Spain) Enfemedad de Fabry screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
fr-FR French (France) Maladie de Fabry dépistage néonatal (commentaire-discussion):Texte:Ponctuel:Sang buvard:Résultat textuel:
fr-BE French (Belgium) Maladie de Fabry Commentaires.screening néonatal.discussion:Texte:Temps ponctuel:Sang sur papier filtre:Narratif:
it-IT Italian (Italy) Malattia di Fabry, screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar:
Synonyms: Chimica Commento-discussione di screening neonatale per malattia di Fabry Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NL Dutch (Netherlands) ziekte van Fabry screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel:
pt-BR Portuguese (Brazil) Doença de Fabry triagem neonatal comentários-discussão::Pt:SgPapel:Nar:
ru-RU Russian (Russian Federation) Фабри 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) Fabry hastalığı yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN Chinese (China) 法布里病 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 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 法布莱病;Fabry 病 法布里病新生儿筛查注释/讨论 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

55908-8 Alpha galactosidase A [Enzymatic activity/volume] in DBS

Term Description

This is a newborn screening test to detect enzymatic activity in dried blood spot to screen for Fabry disease, which is an inherited disorder that results from the buildup of a fatty substance called globotriaosylceramide in the body's cells. This buildup leads to episodes of pain, particularly in the hands and feet; small, dark red spots on the skin called angiokeratomas; decreased sweating (hypohidrosis); corneal opacity; and hearing loss. Fabry disease can also involve potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. This disorder is caused by mutations in the GLA gene; it has an X-linked pattern of inheritance.

Part Descriptions

LP14012-6   Alpha galactosidase A
Alpha (A) galactosidase is an enzyme used in sphingolipid metabolism. The deficiency of the enzyme leads to accumulation of various products that may lead to Fabry's disease, which is lysosomal storage disorder. Source: Regenstrief Institute

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
Alpha galactosidase A
Property
CCnc
Time
Pt
System
Bld.dot
Scale
Qn
Method

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.29
Last Updated
Version 2.70 (MIN)
Order vs. Observation
Both

Member of these Panels

LOINC Long Common Name
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-AT German (Austria) Synonyms: Alpha-Galaktosidase /BT
el-GR Greek (Greece) Άλφα-γαλακτοσιδάση Α:CCnc:Pt:Bld.dot:Qn:
Synonyms: A CCnc Άλφα-γαλακτοσιδάση Α
es-MX Spanish (Mexico) Alfa galactosidasa A:Concentración catalítica:Punto temporal:DBS:Cuantitativo:
es-ES Spanish (Spain) Alfa galactosidasa A:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
et-EE Estonian (Estonia) Alfagalaktosidaas:CCnc:Pt:Vereplekk:Qn:
Synonyms: Juhuslik Kvantitatiivne Veri
fr-CA French (Canada) Alpha galactosidase A:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR French (France) Alpha galactosidase A:Catalytique/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE French (Belgium) Alpha galactosidase A:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT Italian (Italy) Alfa galattosidasi A:CCnC:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) alfa-galactosidase A:enzymatische activiteit/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR Portuguese (Brazil) Alfa galactosidase:#N/A:Pt:SgPapel:Qn:
Synonyms: ; A-Galactosidase; Morquio disease type B; MPS IV B; GM1-gangliosidosis; Alpha-D-galactosidase; Alpha galactosidase A; Catalytic Concentration; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Alfa; Chemistry
ru-RU Russian (Russian Federation) Альфа галактозидаза A:КаталКонц:ТчкВрм:Кр.Сух.капл:Колич:
Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени;Момент
tr-TR Turkish (Turkey) Alfa galaktozidaz A:KtlKons:Zmlı:Kan.nokta:Kant:
zh-CN Chinese (China) Alpha 半乳糖苷酶:催化浓度:时间点:全血.斑点:定量型:
Synonyms: A 型 A-D-半乳糖苷酶;A-D-半乳糖苷酶 A;Alpha 半乳糖苷酶 A;Alpha-D-半乳糖苷酶;Alpha-D-半乳糖苷酶 A;Alpha-半乳糖苷酶;Alpha-半乳糖苷酶 A;A-半乳糖苷酶;A-半乳糖苷酶 A;GM1-神经节苷脂沉积症;GM1-神经节苷脂贮积病;Morquio 氏病 B 型;Morquio 病 B 型;MPS IV B;α-D-半乳糖苷酶;α-D-半乳糖苷酶 A;α半乳糖苷酶;α-半乳糖苷酶;α半乳糖苷酶 A;α-半乳糖苷酶 A;半乳糖苷酶病;半乳糖苷酶缺乏病 α 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 阿尔法

Example Units

Unit Source
umol/L/h Example UCUM Units

62307-4 Krabbe disease newborn screening panel

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Krabbe disease newborn screening panel
Property
-
Time
Pt
System
Bld.dot
Scale
-
Method

Basic Attributes

Class
PANEL.CHEM
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.77 (PANEL)
Order vs. Observation
Order
Panel Type
Panel

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) Πίνακας εξετάσεων διαλογής νεογνών για τη νόσο Krabbe:-:Pt:Bld.dot:-:
Synonyms: Νόσος Krabbe Πίνακας εξετάσεων διαλογής νεογνών Πίνακας εξετάσεων διαλογής νεογνών για τη νόσο Krabbe
es-MX Spanish (Mexico) Panel de detección de recién nacidos con enfermedad de Krabbe:-:Punto temporal:DBS:-:
es-ES Spanish (Spain) Cribado de enfermedad de Krabbe en recién nacido:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
fr-FR French (France) Maladie de Krabbe dépistage néonatal panel:-:Ponctuel:Sang buvard:-:
it-IT Italian (Italy) Malattia di Krabbe, panel screening neonatale:-:Pt:Sangue.su carta da filtro:-:
Synonyms: Chimica Panel screening neonatale Panel screening neonatale per malattia di Krabbe Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco
nl-NL Dutch (Netherlands) ziekte van Krabbe pasgeborene screening panel:-:moment:gedroogde bloedspot:-:
pt-BR Portuguese (Brazil) Doença de Krabbe painel de triagem neonatal::Pt:SgPapel:-:
ru-RU Russian (Russian Federation) Краббе болезнь новорожденных скрининг панель:-:ТчкВрм:Кр.Сух.капл:-:
Synonyms: Кровь Кровь сухая капля Точка во времени;Момент
zh-CN Chinese (China) 遗传性脑白质萎缩新生儿筛查组套:-:时间点:全血.斑点:-:
Synonyms: Asympt SCN 克拉伯病;Krabbe 病 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 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 多重;多重型;多重标尺类型;多重精度类型 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 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）;NB 筛查组合;NB 筛查组套;成分 - 化学 - 新生儿筛查医嘱组;成分 - 化学 - 新生儿筛查组合;成分 - 化学 - 新生儿筛查组套;新生儿筛查组合;新生儿筛查组套 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 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 疾 病 症 筛分 筛分试验 筛查（Screening，SCN） 筛查试验 筛选 筛选试验 组 组合 组合医嘱 组合类 组套 血;血液 遗传性脑白质萎缩新生儿（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）;遗传性脑白质萎缩新生儿筛查组合; 克拉伯病新生儿筛查医嘱组;Krabbe 病新生儿筛查医嘱组

62308-2 Krabbe disease newborn screen interpretation

Observation Required in Panel

Required

Fully-Specified Name

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

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.56 (MIN)
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
Borderline LA4259-3
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) LA11884-6
Out of range requiring immediate referral LA25817-0
One or more tests pending LA16204-2
Screen Negative LA34518-3
Inconclusive Copyright http://snomed.info/sct ID:419984006 Inconclusive (qualifier value) LA9663-1
Not tested LA13538-6
In range LA18592-8
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 second-tier testing for at least one condition LA12431-5
Out of range requiring deferred follow-up for at least one condition LA18594-4
Specimen unsatisfactory for at least one condition LA16205-9

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) Νόσος Krabbe:Imp:Pt:Bld.dot:Nom:
Synonyms: Imp Νόσος Krabbe
es-MX Spanish (Mexico) Enfermedad de Krabbe:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
es-ES Spanish (Spain) Enfermedad de Krabbe:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
fr-CA French (Canada) Maladie de Krabbe:Impression:Temps ponctuel:Sang sur papier filtre:Nominal:
fr-FR French (France) Maladie de Krabbe:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
fr-BE French (Belgium) Maladie de Krabbe:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT Italian (Italy) Malattia di Krabbe: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 Krabbe:interpretatie:moment:gedroogde bloedspot:nominaal:
pt-BR Portuguese (Brazil) Doença de Krabbe::Pt:SgPapel:Nom:
ru-RU Russian (Russian Federation) Краббе 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) Krabbe hastalığı:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN Chinese (China) 遗传性脑白质萎缩:印象:时间点:全血.斑点:名义型:
Synonyms: 克拉伯病;Krabbe 病 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

62309-0 Krabbe disease newborn screening comment-discussion

Observation Required in Panel

Conditional

Fully-Specified Name

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

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) Νόσος Krabbe εξετάσεις διαλογής νεογνών, σχολιασμός-συζήτηση:Txt:Pt:Bld.dot:Nar:
Synonyms: Txt Νόσος Krabbe Σχόλιο
es-MX Spanish (Mexico) Comentario-discusión sobre la detección del recién nacido de la enfermedad de Krabbe:Texto:Punto temporal:DBS:Narrativo:
es-ES Spanish (Spain) Enfermedad de Krabbe screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
fr-FR French (France) Maladie de Krabbe dépistage néonatal (commentaire-discussion):Texte:Ponctuel:Sang buvard:Résultat textuel:
fr-BE French (Belgium) Maladie de Krabbe Commentaires.screening néonatal.discussion:Texte:Temps ponctuel:Sang sur papier filtre:Narratif:
it-IT Italian (Italy) Malattia di Krabbe, screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar:
Synonyms: Chimica Commento-discussione di screening neonatale per malattia di Krabbe Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NL Dutch (Netherlands) ziekte van Krabbe screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel:
pt-BR Portuguese (Brazil) Doença de Krabbe triagem neonatal comentários-discussão::Pt:SgPapel:Nar:
ru-RU Russian (Russian Federation) Краббе 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) Krabbe hastalığı yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN Chinese (China) 遗传性脑白质萎缩 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 克拉伯病;Krabbe 病 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 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 遗传性脑白质萎缩新生儿筛查注释/讨论

62310-8 Galactosylceramidase [Enzymatic activity/volume] in DBS

Part Descriptions

LP14027-4   Galactosylceramidase
An enzyme that hydrolyzes galactose from ceramide monohexosides. Deficiency of this enzyme may cause globoid cell leukodystrophy (LEUKODYSTROPHY, GLOBOID CELL). EC 3.2.1.46. 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
Galactosylceramidase
Property
CCnc
Time
Pt
System
Bld.dot
Scale
Qn
Method

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.61 (MIN)
Order vs. Observation
Both

Member of these Panels

LOINC Long Common Name
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
el-GR Greek (Greece) Γαλακτοσυλκεραμιδάση:CCnc:Pt:Bld.dot:Qn:
Synonyms: CCnc Γαλακτοσυλκεραμιδάση
es-MX Spanish (Mexico) Galactosilceramidasa:Concentración catalítica:Punto temporal:DBS:Cuantitativo:
es-ES Spanish (Spain) Galactosilceramidasa:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
et-EE Estonian (Estonia) Galaktosüülkeramidaas:CCnc:Pt:Vereplekk:Qn:
Synonyms: Juhuslik Kvantitatiivne Veri
fr-CA French (Canada) Galactosylcéramidase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR French (France) Galactosylcéramidase:Catalytique/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE French (Belgium) Galactosylcéramidase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT Italian (Italy) Galattosilceramidasi:CCnC:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) galactosylceramidase:enzymatische activiteit/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR Portuguese (Brazil) Galactocerebrosidase::Pt:SgPapel:Qn:
ru-RU Russian (Russian Federation) Галактозилцерамидаза:КаталКонц:ТчкВрм:Кр.Сух.капл:Колич:
Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени;Момент
tr-TR Turkish (Turkey) Galaktozilseramidaz:KtlKons:Zmlı:Kan.nokta:Kant:
zh-CN Chinese (China) 半乳糖苷神经酰胺酶:催化浓度:时间点:全血.斑点:定量型:
Synonyms: Beta-半乳糖脑苷沉积症;Krabbe 氏病;Krabbe 白质营养不良;Krabbe 脑白质病变;Krabbe 脑白质营养不良;β-半乳糖脑苷沉积症;克拉勃脑白质营养不良;半乳培脑苷脂累积病;半乳糖脑苷脂酶;球样细胞脑白质营养不良;脑白质营养不良 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

62311-6 Gaucher disease newborn screening panel

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Gaucher disease newborn screening panel
Property
-
Time
Pt
System
Bld.dot
Scale
-
Method

Basic Attributes

Class
PANEL.CHEM
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.77 (PANEL)
Order vs. Observation
Order
Panel Type
Panel

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) Πίνακας εξετάσεων διαλογής νεογνών για τη νόσο Gaucher:-:Pt:Bld.dot:-:
Synonyms: Νόσος Gaucher Πίνακας εξετάσεων διαλογής νεογνών Πίνακας εξετάσεων διαλογής νεογνών για τη νόσο Gaucher
es-MX Spanish (Mexico) Panel de cribado neonatal de la enfermedad de Gaucher:-:Punto temporal:DBS:-:
es-ES Spanish (Spain) Cribado de enfermedad de Gaucher recién nacido:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
fr-FR French (France) Maladie de Gaucher dépistage néonatal panel:-:Ponctuel:Sang buvard:-:
it-IT Italian (Italy) Malattia di Gaucher, panel screening neonatale:-:Pt:Sangue.su carta da filtro:-:
Synonyms: Chimica Panel screening neonatale Panel screening neonatale per malattia di Gaucher Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco
nl-NL Dutch (Netherlands) ziekte van Gaucher pasgeborene screening panel:-:moment:gedroogde bloedspot:-:
pt-BR Portuguese (Brazil) Doença de Gaucher painel de triagem neonatal::Pt:SgPapel:-:
ru-RU Russian (Russian Federation) Гоше болезнь новорожденных скрининг панель:-:ТчкВрм:Кр.Сух.капл:-:
Synonyms: Кровь Кровь сухая капля Точка во времени;Момент
zh-CN Chinese (China) 戈谢病新生儿筛查组套:-:时间点:全血.斑点:-:
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 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 多重;多重型;多重标尺类型;多重精度类型 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 戈谢病新生儿（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）;戈谢病新生儿筛查组合;Gaucher 病新生儿筛查医嘱组;高雪病新生儿筛查医嘱组 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）;NB 筛查组合;NB 筛查组套;成分 - 化学 - 新生儿筛查医嘱组;成分 - 化学 - 新生儿筛查组合;成分 - 化学 - 新生儿筛查组套;新生儿筛查组合;新生儿筛查组套 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 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 疾 病 症 筛分 筛分试验 筛查（Screening，SCN） 筛查试验 筛选 筛选试验 组 组合 组合医嘱 组合类 组套 血;血液

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

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.56 (MIN)
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
Borderline LA4259-3
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) LA11884-6
Out of range requiring immediate referral LA25817-0
One or more tests pending LA16204-2
Screen Negative LA34518-3
Inconclusive Copyright http://snomed.info/sct ID:419984006 Inconclusive (qualifier value) LA9663-1
Not tested LA13538-6
In range LA18592-8
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 second-tier testing for at least one condition LA12431-5
Out of range requiring deferred follow-up for at least one condition LA18594-4
Specimen unsatisfactory for at least one condition LA16205-9

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) Νόσος Gaucher:Imp:Pt:Bld.dot:Nom:
Synonyms: Imp Νόσος Gaucher
es-MX Spanish (Mexico) Enfermedad de Gaucher:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
es-ES Spanish (Spain) Enfermedad de Gaucher:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
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

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) Νόσος Gaucher εξετάσεις διαλογής νεογνών, σχολιασμός-συζήτηση:Txt:Pt:Bld.dot:Nar:
Synonyms: Txt Νόσος Gaucher Σχόλιο
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

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.29
Last Updated
Version 2.70 (MIN)
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
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:
el-GR Greek (Greece) Γλυκοζυλοκεραμιδάση:CCnc:Pt:Bld.dot:Qn:
Synonyms: CCnc Γλυκοζυλοκεραμιδάση
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

79563-3 Mucopolysaccharidosis type I newborn screening panel

Term Description

The Mucopolysaccharidosis type I (MPS I) newborn screening panel is used to report the results of newborn screening for the diagnosis of MPS I, also known as Hurler syndrome, an inherited disorder in which the body is unable to produce an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). MPS I is caused by mutations in the IDUA gene and has an autosomal recessive pattern of inheritance.

Fully-Specified Name

Component
Mucopolysaccharidosis type I newborn screening panel
Property
-
Time
Pt
System
Bld.dot
Scale
-
Method

Basic Attributes

Class
PANEL.CHEM
Type
Laboratory
First Released
Version 2.54
Last Updated
Version 2.77 (PANEL)
Order vs. Observation
Order
Panel Type
Panel

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) Πίνακας εξετάσεων διαλογής νεογνών βλεννοπολυσακχαρίδωσης τύπου Ι:-:Pt:Bld.dot:-:
Synonyms: I Type Βλεννοπολυσακχαρίδωση Βλεννοπολυσακχαρίδωση τύπου I Πίνακας εξετάσεων διαλογής νεογνών Πίνακας εξετάσεων διαλογής νεογνών βλεννοπολυσακχαρίδωσης τύπου Ι
es-MX Spanish (Mexico) Panel de cribado neonatal de mucopolisacaridosis tipo I:-:Punto temporal:DBS:-:
es-ES Spanish (Spain) Panel de cribado neonatal Mucopolisacaridosis tipo I:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
fr-FR French (France) Mucopolysaccharidoses type I dépistage néonatal panel:-:Ponctuel:Sang buvard:-:
it-IT Italian (Italy) Mucopolisaccaridosi tipologia 1 screening neonatale, panel:-:Pt:Sangue.su carta da filtro:-:
Synonyms: Chimica Panel Mucopolisaccaridosi tipologia 1 screening ne Panel screening neonatale Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco
nl-NL Dutch (Netherlands) mucopolysaccharidose type I pasgeborene screening panel:-:moment:gedroogde bloedspot:-:
Synonyms: MPS soort
zh-CN Chinese (China) 黏多糖贮积症 I 型新生儿筛查组套:-:时间点:全血.斑点:-:
Synonyms: Asympt I 型 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 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 型 多重;多重型;多重标尺类型;多重精度类型 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 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）;NB 筛查组合;NB 筛查组套;成分 - 化学 - 新生儿筛查医嘱组;成分 - 化学 - 新生儿筛查组合;成分 - 化学 - 新生儿筛查组套;新生儿筛查组合;新生儿筛查组套 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 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 筛分 筛分试验 筛查（Screening，SCN） 筛查试验 筛选 筛选试验 粘多糖病 I 型;粘多糖病 I 型;黏多糖贮积症 I 型;粘多糖沉积病 I 型;黏多糖沉积病 I 型;MPS-I;MPSⅠ 粘多糖病 I 型;黏多糖病 I 型;粘多糖贮积症 I 型;粘多糖沉积病 I 型;黏多糖沉积病 I 型;MPS-I;MPSⅠ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） 粘多糖贮积症;黏多糖病;粘多糖病 组 组合 组合医嘱 组合类 组套 血;血液

55909-6 Alpha-L-iduronidase [Enzymatic activity/volume] in DBS

Part Descriptions

LP14016-7   Alpha-L-iduronidase
Hurler syndrome, also known as mucopolysaccharidosis type I (MPS I), Hurler's disease or gargoylism, is a genetic disorder that results in the buildup of mucopolysaccharides due to a deficiency of alpha-L iduronidase, an enzyme responsible for the degradation of mucopolysaccharides in lysosomes. Without this enzyme, a buildup of heparan sulfate and dermatan sulfate occurs in the body. Symptoms appear during childhood and early death can occur due to organ damage. 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 , Alpha-L iduronidase

Fully-Specified Name

Component
Alpha-L-iduronidase
Property
CCnc
Time
Pt
System
Bld.dot
Scale
Qn
Method

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.29
Last Updated
Version 2.70 (MIN)
Order vs. Observation
Both

Member of these Panels

LOINC Long Common Name
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-AT German (Austria) Synonyms: Alpha-Iduronidase /BT
el-GR Greek (Greece) Άλφα-L-ιδουρονιδάση:CCnc:Pt:Bld.dot:Qn:
Synonyms: CCnc Άλφα-L-ιδουρονιδάση
es-MX Spanish (Mexico) Alfa-L-iduronidasa:Concentración catalítica:Punto temporal:DBS:Cuantitativo:
es-ES Spanish (Spain) Alfa-L-iduronidasa:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
et-EE Estonian (Estonia) Alfa-L-iduronidaas:CCnc:Pt:Vereplekk:Qn:
Synonyms: Juhuslik Kvantitatiivne Veri
fr-CA French (Canada) Alpha-L-iduronidase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR French (France) Alpha L-idurodinase:Catalytique/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE French (Belgium) Alpha-L-iduronidase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT Italian (Italy) Alfa-L-iduronidasi:CCnC:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) alfa-L-iduronidase:enzymatische activiteit/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR Portuguese (Brazil) Alfa-L-iduronidase:#N/A:Pt:SgPapel:Qn:
Synonyms: ; A-L-Iduronidase; Hurler disease; Scheie disease; Catalytic Concentration; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Left; Alfa; Chemistry
ru-RU Russian (Russian Federation) Альфа-L-идуронидазы:КаталКонц:ТчкВрм:Кр.Сух.капл:Колич:
Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени;Момент
tr-TR Turkish (Turkey) Alfa-L-iduronidaz:KtlKons:Zmlı:Kan.nokta:Kant:
zh-CN Chinese (China) Alpha-L-艾杜糖苷酶:催化浓度:时间点:全血.斑点:定量型:
Synonyms: Alpha-L-艾杜糖醛酸苷酶;A-L-艾杜糖苷酶;A-L-艾杜糖醛酸苷酶;Hurler 氏病;Hurler 病;I 型粘多糖贮积病;Scheie 氏病;Scheie 病;α-L-艾杜糖苷酶;α-L-艾杜糖醛酸苷酶;α-L-艾牡糖醛酸酶;粘多糖代谢病 1 型;粘多糖代谢病 I 型;粘多糖第一型 S 分型（Scheie 症候群）;粘多糖贮积症 1 型;粘多糖贮积症 I 型 α 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 左 左侧 左侧（Left，L） 时刻;随机;随意;瞬间 血;血液 阿尔法

Example Units

Unit Source
umol/h/L Example UCUM Units

79564-1 Mucopolysaccharidosis type I newborn screen interpretation

Term Description

This observation indicates whether the newborn screen was in-range or out-of-range for the analytes related to Mucopolysaccharidosis type I (MPS I).

Part Descriptions

LP203226-8   Mucopolysaccharidosis type I
Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. Because there is so much overlap between each of these three syndromes, MPS I is currently divided into the severe and attenuated types. Mutations in the IDUA gene cause MPS I. The IDUA gene provides instructions for producing an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. Mutations in the IDUA gene reduce or completely eliminate the function of the IDUA enzyme. The lack of IDUA enzyme activity leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions that cause molecules to build up inside the lysosomes, including MPS I, are called lysosomal storage disorders. The accumulation of GAGs increases the size of the lysosomes, which is why many tissues and organs are enlarged in this disorder. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.[MedlinePlus Condition: mucopolysaccharidosis-type-i] Source: Genetic Home Reference, National Library of Medicine

Fully-Specified Name

Component
Mucopolysaccharidosis type I
Property
Imp
Time
Pt
System
Bld.dot
Scale
Nom
Method

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.54
Last Updated
Version 2.54 (MIN)
Order vs. Observation
Observation

Preferred Answer List LL840-0

Answer Code Score Answer ID
Borderline LA4259-3
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) LA11884-6
Out of range requiring immediate referral LA25817-0
One or more tests pending LA16204-2
Screen Negative LA34518-3
Inconclusive Copyright http://snomed.info/sct ID:419984006 Inconclusive (qualifier value) LA9663-1
Not tested LA13538-6
In range LA18592-8
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 second-tier testing for at least one condition LA12431-5
Out of range requiring deferred follow-up for at least one condition LA18594-4
Specimen unsatisfactory for at least one condition LA16205-9

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) Βλεννοπολυσακχαρίδωση τύπου I:Imp:Pt:Bld.dot:Nom:
Synonyms: I Imp Type Βλεννοπολυσακχαρίδωση Βλεννοπολυσακχαρίδωση τύπου I
es-MX Spanish (Mexico) Mucopolisacaridosis tipo I:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
es-ES Spanish (Spain) Mucopolisacaridosis tipo I:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
fr-FR French (France) Mucopolysaccharidose type 1:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
it-IT Italian (Italy) Mucopolisaccaridosi tipologia 1: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) mucopolysaccharidose type I:interpretatie:moment:gedroogde bloedspot:nominaal:
Synonyms: MPS soort
tr-TR Turkish (Turkey) Mukopolisakkaridozis tip I:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN Chinese (China) 黏多糖贮积症 I 型:印象:时间点:全血.斑点:名义型:
Synonyms: I 型 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 型 时刻;随机;随意;瞬间 粘多糖病 I 型;粘多糖病 I 型;黏多糖贮积症 I 型;粘多糖沉积病 I 型;黏多糖沉积病 I 型;MPS-I;MPSⅠ 粘多糖贮积症;黏多糖病;粘多糖病 血;血液

79565-8 Mucopolysaccharidosis type I newborn screening comment-discussion

Part Descriptions

LP203226-8   Mucopolysaccharidosis type I
Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. Because there is so much overlap between each of these three syndromes, MPS I is currently divided into the severe and attenuated types. Mutations in the IDUA gene cause MPS I. The IDUA gene provides instructions for producing an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. Mutations in the IDUA gene reduce or completely eliminate the function of the IDUA enzyme. The lack of IDUA enzyme activity leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions that cause molecules to build up inside the lysosomes, including MPS I, are called lysosomal storage disorders. The accumulation of GAGs increases the size of the lysosomes, which is why many tissues and organs are enlarged in this disorder. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.[MedlinePlus Condition: mucopolysaccharidosis-type-i] Source: Genetic Home Reference, National Library of Medicine

Fully-Specified Name

Component
Mucopolysaccharidosis type I newborn screening comment-discussion
Property
Txt
Time
Pt
System
Bld.dot
Scale
Nar
Method

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.54
Last Updated
Version 2.54 (ADD)
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) Βλεννοπολυσακχαρίδωση τύπου I εξετάσεις διαλογής νεογνών, σχολιασμός-συζήτηση:Txt:Pt:Bld.dot:Nar:
Synonyms: I Txt Type Βλεννοπολυσακχαρίδωση Βλεννοπολυσακχαρίδωση τύπου I Σχόλιο
es-MX Spanish (Mexico) Mucopolisacaridosis tipo I cribado neonatal comentario-discusión:Texto:Punto temporal:DBS:Narrativo:
es-ES Spanish (Spain) Mucopolisacaridosis tipo I screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
fr-FR French (France) Mucopolysaccharidose type 1 dépistage nouveau né commentaire-discussion:Texte:Ponctuel:Sang buvard:Résultat textuel:
it-IT Italian (Italy) Mucopolisaccaridosi tipologia 1, screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar:
Synonyms: Chimica Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NL Dutch (Netherlands) mucopolysaccharidose type I screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel:
Synonyms: MPS soort
tr-TR Turkish (Turkey) Mukopolisakkaridozis tip I yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN Chinese (China) 黏多糖贮积症 I 型 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 I 型 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 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 短评 筛分 筛分试验 筛查（Screening，SCN） 筛查试验 筛选 筛选试验 粘多糖病 I 型;粘多糖病 I 型;黏多糖贮积症 I 型;粘多糖沉积病 I 型;黏多糖沉积病 I 型;MPS-I;MPSⅠ 粘多糖贮积症;黏多糖病;粘多糖病 血;血液 解说 解释 评定 评注 评论 评语 说明

104188-8 Mucopolysaccharidosis type II newborn screening panel

Fully-Specified Name

Component
Mucopolysaccharidosis type II newborn screening panel
Property
-
Time
Pt
System
Bld.dot
Scale
-
Method

Basic Attributes

Class
PANEL.CHEM
Type
Laboratory
First Released
Version 2.77
Last Updated
Version 2.78 (PANEL)
Order vs. Observation
Order
Panel Type
Panel

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) Πίνακας εξετάσεων διαλογής νεογνών βλεννοπολυσακχαρίδωσης τύπου ΙΙ:-:Pt:Bld.dot:-:
es-ES Spanish (Spain) Panel de detección de mucopolisacaridosis tipo II en recién nacidos:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
fr-FR French (France) Mucopolysaccharidoses type II dépistage néonatal panel:-:Ponctuel:Sang buvard:-:
it-IT Italian (Italy) Mucopolisaccaridosi tipologia II screening neonatale, panel:-:Pt:Sangue.su carta da filtro:-:
Synonyms: Chimica Panel mucopolisaccaridosi tipologia II screening neonatale Panel screening neonatale Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco
nl-NL Dutch (Netherlands) screening van pasgeborene mucopolysacharidose type 2 panel:-:moment:gedroogde bloedspot:-:
Synonyms: MPS MPS 2; syndroom van Hunter; sulfoïduronaatsulfatasedeficiëntie soort
zh-CN Chinese (China) 黏多糖贮积症 II 型新生儿筛查组套:-:时间点:全血.斑点:-:
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 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 型 多重;多重型;多重标尺类型;多重精度类型 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 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）;NB 筛查组合;NB 筛查组套;成分 - 化学 - 新生儿筛查医嘱组;成分 - 化学 - 新生儿筛查组合;成分 - 化学 - 新生儿筛查组套;新生儿筛查组合;新生儿筛查组套 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 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 筛分 筛分试验 筛查（Screening，SCN） 筛查试验 筛选 筛选试验 粘多糖贮积症;黏多糖病;粘多糖病 组 组合 组合医嘱 组合类 组套 血;血液 黏多糖贮积症 II 型（粘多糖贮积症 II 型、II 型黏多糖贮积症、II 型粘多糖贮积症、粘多糖病第二型、粘多糖病 II 型）新生儿筛查组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）

79462-8 Iduronate-2-Sulfatase [Enzymatic activity/volume] in DBS

Part Descriptions

LP14029-0   Iduronate-2-Sulfatase
Iduronate-2-sulfate levels detect Hurler syndrome. Specimens include fibroblasts and WBC. Source: Regenstrief Institute

Fully-Specified Name

Component
Iduronate-2-Sulfatase
Property
CCnc
Time
Pt
System
Bld.dot
Scale
Qn
Method

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.54
Last Updated
Version 2.61 (MIN)
Order vs. Observation
Both

Member of these Panels

LOINC Long Common Name
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
el-GR Greek (Greece) Ιδουρονική-2-σουλφατάση:CCnc:Pt:Bld.dot:Qn:
Synonyms: CCnc Ιδουρονική-2-σουλφατάση
es-MX Spanish (Mexico) Iduronato-2-sulfatasa:Concentración catalítica:Punto temporal:DBS:Cuantitativo:
es-ES Spanish (Spain) Iduronato 2-Sulfatasa:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
et-EE Estonian (Estonia) Iduronaat-2-sulfataas:CCnc:Pt:Vereplekk:Qn:
Synonyms: Juhuslik Kvantitatiivne Veri
fr-CA French (Canada) Iduronate-2-sulfatase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR French (France) Iduronate-2-sulfatase:Catalytique/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE French (Belgium) Iduronate-2-sulfatase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT Italian (Italy) Iduronato-2-Solfatasi:CCnC:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) iduronaat-2-sulfatase:enzymatische activiteit/volume:moment:gedroogde bloedspot:kwantitatief:
ru-RU Russian (Russian Federation) Идуронат-2-сульфатаза:КаталКонц:ТчкВрм:Кр.Сух.капл:Колич:
Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени;Момент
tr-TR Turkish (Turkey) Iduronat-2-sülfataz:KtlKons:Zmlı:Kan.nokta:Kant:
zh-CN Chinese (China) 艾杜糖-2-硫酸酯酶:催化浓度:时间点:全血.斑点:定量型:
Synonyms: Ⅱ Hunter 病;Hunter 综合征;MPS II;粘多糖贮积症 II 型;粘多糖贮积症Ⅱ型;黏多糖贮积症 II 型;黏多糖贮积症Ⅱ型 II 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
nmol/h/mL Example UCUM Units

104190-4 Mucopolysaccharidosis type II comment [Text] in DBS Narrative

Fully-Specified Name

Component
Mucopolysaccharidosis type II comment
Property
Txt
Time
Pt
System
Bld.dot
Scale
Nar
Method

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.77
Last Updated
Version 2.77 (ADD)
Order vs. Observation
Order

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) Σχόλιο βλεννοπολυσακχαρίδωσης τύπου ΙΙ:Txt:Pt:Bld.dot:Nar:
Synonyms: Txt
es-ES Spanish (Spain) Comentario a mucopolisacaridosis tipo II:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
fr-FR French (France) Mucopolysaccharidosis type II commentaire:Texte:Ponctuel:Sang buvard:Résultat textuel:
it-IT Italian (Italy) Mucopolisaccaridosi di tipo II,commento:Txt:Pt:Sangue.su carta da filtro:Nar:
Synonyms: Chimica Commento mucopolisaccaridosi di tipo II, Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NL Dutch (Netherlands) mucopolysacharidose type 2:tekst:moment:gedroogde bloedspot:tekstueel:
Synonyms: MPS MPS 2; syndroom van Hunter; sulfoïduronaatsulfatasedeficiëntie soort
zh-CN Chinese (China) 黏多糖贮积症 II 型注释:文本型属性:时间点:全血.斑点:叙述型:
Synonyms: 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 型 备注 备注;评论;注解;说明;评语 意见 文本;文本型;文本属性 时刻;随机;随意;瞬间 注解 短评 粘多糖贮积症;黏多糖病;粘多糖病 血;血液 解说 解释 评定 评注 评论 评语 说明 黏多糖贮积症 II 型（粘多糖贮积症 II 型、II 型黏多糖贮积症、II 型粘多糖贮积症、粘多糖病第二型、粘多糖病 II 型）注释（备注、注解、评论说明、意见）

104189-6 Mucopolysaccharidosis type II newborn screen interpretation newborn screen interpretation

Fully-Specified Name

Component
Mucopolysaccharidosis type II newborn screen interpretation
Property
Imp
Time
Pt
System
Bld.dot
Scale
Nom
Method

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.77
Last Updated
Version 2.77 (ADD)
Order vs. Observation
Order

Example Answer List LL6931-1

Answer Code Score Answer ID
Borderline LA4259-3
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) LA11884-6
One or more tests pending LA16204-2
Screen Negative LA34518-3
Screen Positive LA34519-1
Specimen unacceptable for at least one condition LA34520-9
Inconclusive Copyright http://snomed.info/sct ID:419984006 Inconclusive (qualifier value) LA9663-1
Not tested LA13538-6

Member of these Panels

LOINC Long Common Name
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Ερμηνεία των εξετάσεων διαλογής νεογνών βλεννοπολυσακχαρίδωσης τύπου ΙΙ:Imp:Pt:Bld.dot:Nom:
Synonyms: Imp
es-ES Spanish (Spain) Interpretación del cribado de mucopolisacaridosis tipo II en recién nacidos:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
fr-FR French (France) Mucopolysaccharidoses type II dépistage néonatal interprétation:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
it-IT Italian (Italy) Mucopolisaccaridosi di tipo II,interpretazione screening neonatale:Imp:Pt:Sangue.su carta da filtro:Nom:
Synonyms: Chimica Impressione/interpretazione di studio Interpretazione screening neonatale di mucopolisaccaridosi di tipo II Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) screening van pasgeborene op mucopolysacharidose type 2 interpretatie:interpretatie:moment:gedroogde bloedspot:nominaal:
Synonyms: MPS MPS 2; syndroom van Hunter; sulfoïduronaatsulfatasedeficiëntie soort
zh-CN Chinese (China) 黏多糖贮积症 II 型新生儿筛查解释:印象:时间点:全血.斑点:名义型:
Synonyms: 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 判读;解释说明;说明;释义;阐明 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 型 时刻;随机;随意;瞬间 筛查 筛查试验 筛选试验 粘多糖贮积症;黏多糖病;粘多糖病 血;血液 过筛 过筛试验 黏多糖贮积症 II 型（粘多糖贮积症 II 型、II 型黏多糖贮积症、II 型粘多糖贮积症、粘多糖病第二型、粘多糖病 II 型）新生儿筛查解释（说明）

62315-7 Niemann Pick disease A/B newborn screening panel

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Niemann Pick disease A+B newborn screening panel
Property
-
Time
Pt
System
Bld.dot
Scale
-
Method

Basic Attributes

Class
PANEL.CHEM
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.77 (PANEL)
Order vs. Observation
Order
Panel Type
Panel

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) Πίνακας εξετάσεων διαλογής νεογνών για τη νόσο Niemann Pick A+B:-:Pt:Bld.dot:-:
Synonyms: A A,B B Νόσος Niemann Pick A+B Πίνακας εξετάσεων διαλογής νεογνών Πίνακας εξετάσεων διαλογής νεογνών για τη νόσο Niemann Pick A+B
es-MX Spanish (Mexico) Panel de cribado neonatal de enfermedad de Niemann Pick A + B:-:Punto temporal:DBS:-:
es-ES Spanish (Spain) Cribado de enfermedad de Niemann Pick A+B en recién nacido:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
fr-FR French (France) Maladie de Niemann Pick A+B dépistage néonatal panel:-:Ponctuel:Sang buvard:-:
it-IT Italian (Italy) Malattia di Niemann Pick A+B, panel screening neonatale:-:Pt:Sangue.su carta da filtro:-:
Synonyms: Chimica Malattia di Niemann Pick A/B Panel screening neonatale Panel screening neonatale per malattia di Niemann Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco
nl-NL Dutch (Netherlands) ziekte van Niemann Pick A+B pasgeborene screening panel:-:moment:gedroogde bloedspot:-:
pt-BR Portuguese (Brazil) Doença de Niemann Pick A+B painel de triagem neonatal::Pt:SgPapel:-:
ru-RU Russian (Russian Federation) Ниманн-Пик болезнь A+B новорождённый скрининг панель:-:ТчкВрм:Кр.Сух.капл:-:
Synonyms: Кровь Кровь сухая капля Точка во времени;Момент
zh-CN Chinese (China) 尼曼-匹克病 A+B 新生儿筛查组套:-:时间点:全血.斑点:-:
Synonyms: A 型 A,B 型;AB 型 Asympt B 型 Niemann Pick 病 A+B;Niemann-Pick 病 A+B 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 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 多重;多重型;多重标尺类型;多重精度类型 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 尼曼-匹克病 A+B 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）;尼曼-匹克病 A+B 新生儿筛查组合;Niemann Pick 病 A+B 新生儿筛查医嘱组;Niemann-Pick 病 A+B 新生儿筛查医嘱组 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）;NB 筛查组合;NB 筛查组套;成分 - 化学 - 新生儿筛查医嘱组;成分 - 化学 - 新生儿筛查组合;成分 - 化学 - 新生儿筛查组套;新生儿筛查组合;新生儿筛查组套 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 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 疾 病 症 筛分 筛分试验 筛查（Screening，SCN） 筛查试验 筛选 筛选试验 组 组合 组合医嘱 组合类 组套 血;血液

62318-1 Niemann Pick disease A/B newborn screen interpretation

Observation Required in Panel

Required

Fully-Specified Name

Component
Niemann Pick disease A+B
Property
Imp
Time
Pt
System
Bld.dot
Scale
Nom
Method

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.56 (MIN)
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
Borderline LA4259-3
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) LA11884-6
Out of range requiring immediate referral LA25817-0
One or more tests pending LA16204-2
Screen Negative LA34518-3
Inconclusive Copyright http://snomed.info/sct ID:419984006 Inconclusive (qualifier value) LA9663-1
Not tested LA13538-6
In range LA18592-8
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 second-tier testing for at least one condition LA12431-5
Out of range requiring deferred follow-up for at least one condition LA18594-4
Specimen unsatisfactory for at least one condition LA16205-9

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) Νόσος Niemann Pick A+B:Imp:Pt:Bld.dot:Nom:
Synonyms: A A,B B Imp Νόσος Niemann Pick A+B
es-MX Spanish (Mexico) Enfermedad de Niemann Pick A + B:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
es-ES Spanish (Spain) Enfermedad de Niemann-Pick A+B:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
fr-CA French (Canada) Maladie de Niemann Pick A+B:Impression:Temps ponctuel:Sang sur papier filtre:Nominal:
fr-FR French (France) Maladie de Niemann Pick A+B:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
fr-BE French (Belgium) Maladie de Niemann Pick A+B:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT Italian (Italy) Malattia di Niemann Pick A+B:Imp:Pt:Sangue.su carta da filtro:Nom:
Synonyms: Chimica Impressione/interpretazione di studio Malattia di Niemann Pick A/B Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) ziekte van Niemann Pick A+B:interpretatie:moment:gedroogde bloedspot:nominaal:
ru-RU Russian (Russian Federation) Ниманна-Пика болезнь A+B:Впчт:ТчкВрм:Кр.Сух.капл:Ном:
Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR Turkish (Turkey) Niemann Pick hastalığı A+B:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN Chinese (China) 尼曼-匹克病 A+B:印象:时间点:全血.斑点:名义型:
Synonyms: A 型 A,B 型;AB 型 B 型 Niemann Pick 病 A+B;Niemann-Pick 病 A+B 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

62319-9 Niemann Pick disease A/B newborn screening comment-discussion

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Niemann Pick disease A+B newborn screening comment-discussion
Property
Txt
Time
Pt
System
Bld.dot
Scale
Nar
Method

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) Νόσος Niemann Pick A+B εξετάσεις διαλογής νεογνών, σχολιασμός-συζήτηση:Txt:Pt:Bld.dot:Nar:
Synonyms: A A,B B Txt Νόσος Niemann Pick A+B Σχόλιο
es-MX Spanish (Mexico) Discusión de comentario sobre detección neonatal A + B de enfermedad de Niemann Pick:Texto:Punto temporal:DBS:Narrativo:
es-ES Spanish (Spain) Enfermedad de Niemann-Pick A+B screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
fr-FR French (France) Maladie de Niemann Pick A+B dépistage néonatal (commentaire-discussion):Texte:Ponctuel:Sang buvard:Résultat textuel:
fr-BE French (Belgium) Maladie de Niemann Pick A+B Commentaires.screening néonatal.discussion:Texte:Temps ponctuel:Sang sur papier filtre:Narratif:
it-IT Italian (Italy) Malattia di Niemann Pick A+B, screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar:
Synonyms: Chimica Commento-discussione di screening neonatale per malattia di Niemann Pick A/B Malattia di Niemann Pick A/B Punto nel tempo (episodio) Sangue Spot sangue secco Testo
nl-NL Dutch (Netherlands) ziekte van Niemann Pick A+B screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel:
ru-RU Russian (Russian Federation) Ниманна-Пика болезнь A+B 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) Niemann Pick hastalığı A+B yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CN Chinese (China) 尼曼-匹克病 A+B 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: A 型 A,B 型;AB 型 Asympt B 型 Niemann Pick 病 A+B;Niemann-Pick 病 A+B 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 尼曼-匹克病 A+B 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

62316-5 Acid sphingomyelinase [Enzymatic activity/volume] in DBS

Part Descriptions

LP14035-7   Acid sphingomyelinase
Sphingomyelin phosphodiesterase or simply Sphingomyelinase (SMase) is a hydrolase enzyme that is involved in sphingolipid metabolism reactions. SMase is a member of the DNase I superfamily of enzymes and is responsible for breaking sphingomyelin (SM) down into phosphocholine and ceramide. The activation of SMase has been suggested as a major route for the production of ceramide in response to cellular stresses. 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

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
Acid sphingomyelinase
Property
CCnc
Time
Pt
System
Bld.dot
Scale
Qn
Method

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.61 (MIN)
Order vs. Observation
Both

Member of these Panels

LOINC Long Common Name
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-AT German (Austria) Synonyms: Sphingomyelinase /BT
el-GR Greek (Greece) Όξινη σφιγγομυελινάση:CCnc:Pt:Bld.dot:Qn:
Synonyms: CCnc Όξινη σφιγγομυελινάση
es-MX Spanish (Mexico) Esfingomielinasa ácida:Concentración catalítica:Punto temporal:DBS:Cuantitativo:
es-ES Spanish (Spain) Esfingomielinasa ácida:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
et-EE Estonian (Estonia) Sfingomüelinaas:CCnc:Pt:Vereplekk:Qn:
Synonyms: Juhuslik Kvantitatiivne Veri
fr-CA French (Canada) Acide sphingomyélinase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR French (France) Sphingomyélinase acide:Catalytique/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE French (Belgium) Sphingomyélinase acide:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT Italian (Italy) Sfingomielinasi acida:CCnC:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) zure sfingomyelinase:enzymatische activiteit/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR Portuguese (Brazil) Ácido esfingomielinase::Pt:SgPapel:Qn:
ru-RU Russian (Russian Federation) Кислая сфингомиелиназа:КаталКонц:ТчкВрм:Кр.Сух.капл:Колич:
Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени;Момент
tr-TR Turkish (Turkey) Asit sfingomiyelinaz:KtlKons:Zmlı:Kan.nokta:Kant:
zh-CN Chinese (China) 神经磷脂酶:催化浓度:时间点:全血.斑点:定量型:
Synonyms: A 型和 B 型 Niemann-Pick 病;A 型和 B 型尼曼-匹克病;Niemann-Pick 氏症;Niemann-Pick 病;Niemann-Pick 病 A 型和 B 型;尼曼-匹克病;尼曼-匹克病 A 型和 B 型;尼曼匹克症;神经鞘磷脂磷酸二酯酶;鞘磷脂磷酸二酯酶;鞘磷脂酶;鞘髓磷脂储积症 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 酸

Example Units

Unit Source
umol/L/h Example UCUM Units

63414-7 Pompe disease newborn screening panel

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Pompe disease newborn screening panel
Property
-
Time
Pt
System
Bld.dot
Scale
-
Method

Basic Attributes

Class
PANEL.CHEM
Type
Laboratory
First Released
Version 2.36
Last Updated
Version 2.77 (PANEL)
Order vs. Observation
Order
Panel Type
Panel

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) Πίνακας εξετάσεων διαλογής νεογνών για τη νόσο Pompe:-:Pt:Bld.dot:-:
Synonyms: Νόσος Pompe Πίνακας εξετάσεων διαλογής νεογνών Πίνακας εξετάσεων διαλογής νεογνών για τη νόσο Pompe
es-MX Spanish (Mexico) Panel de cribado neonatal de la enfermedad de Pompe:-:Punto temporal:DBS:-:
es-ES Spanish (Spain) Panel screening de la enfermedad de Pompe en recien nacidos:Propiedades mixtas (sólo paneles):Punto temporal:gota de sangre (papel de filtro):-:
fr-FR French (France) Maladie de Pompe dépistage néonatal panel:-:Ponctuel:Sang buvard:-:
it-IT Italian (Italy) Morbo di Pompe, panel screening neonatale:-:Pt:Sangue.su carta da filtro:-:
Synonyms: Chimica Panel screening neonatale Panel screening neonatale per morbo di Pompe Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco
nl-NL Dutch (Netherlands) ziekte van Pompe pasgeborene screening panel:-:moment:gedroogde bloedspot:-:
ru-RU Russian (Russian Federation) Помпе болезнь новорожденных скрининг панель:-:ТчкВрм:Кр.Сух.капл:-:
Synonyms: Кровь Кровь сухая капля Точка во времени;Момент
zh-CN Chinese (China) 庞贝病新生儿筛查组套:-:时间点:全血.斑点:-:
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 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.化学试验;化学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;化学医嘱组类;医嘱组.化学;医嘱组.化学检验项目;医嘱组类.化学;医嘱组类.化学检验项目;医嘱组类.化学试验;实验室医嘱组类.化学;实验室医嘱组类.化学检验项目;实验室医嘱组类.化学试验 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 多重;多重型;多重标尺类型;多重精度类型 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 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 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）;NB 筛查组合;NB 筛查组套;成分 - 化学 - 新生儿筛查医嘱组;成分 - 化学 - 新生儿筛查组合;成分 - 化学 - 新生儿筛查组套;新生儿筛查组合;新生儿筛查组套 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 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 疾 病 症 筛分 筛分试验 筛查（Screening，SCN） 筛查试验 筛选 筛选试验 组 组合 组合医嘱 组合类 组套 血;血液

63415-4 Pompe disease newborn screen interpretation

Observation Required in Panel

Required

Fully-Specified Name

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

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.36
Last Updated
Version 2.56 (MIN)
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
Borderline LA4259-3
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) LA11884-6
Out of range requiring immediate referral LA25817-0
One or more tests pending LA16204-2
Screen Negative LA34518-3
Inconclusive Copyright http://snomed.info/sct ID:419984006 Inconclusive (qualifier value) LA9663-1
Not tested LA13538-6
In range LA18592-8
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 second-tier testing for at least one condition LA12431-5
Out of range requiring deferred follow-up for at least one condition LA18594-4
Specimen unsatisfactory for at least one condition LA16205-9

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) Νόσος Pompe:Imp:Pt:Bld.dot:Nom:
Synonyms: Imp Νόσος Pompe
es-MX Spanish (Mexico) Enfermedad de Pompe:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
es-ES Spanish (Spain) Enfermedad de Pompe:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
fr-FR French (France) Maladie de Pompe:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
it-IT Italian (Italy) Morbo di Pompe: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 Pompe:interpretatie:moment:gedroogde bloedspot:nominaal:
ru-RU Russian (Russian Federation) Помпе 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) Pompe hastalığı:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CN Chinese (China) 庞贝病:印象:时间点:全血.斑点:名义型:
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 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

63416-2 Pompe disease newborn screening comment-discussion

Observation Required in Panel

Conditional

Fully-Specified Name

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

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.36
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) Νόσος Pompe εξετάσεις διαλογής νεογνών, σχολιασμός-συζήτηση:Txt:Pt:Bld.dot:Nar:
Synonyms: Txt Νόσος Pompe Σχόλιο
es-MX Spanish (Mexico) Comentario-discusión del cribado neonatal de la enfermedad de Pompe:Texto:Punto temporal:DBS:Narrativo:
es-ES Spanish (Spain) Enfermedad de Pompe screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):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

55827-0 Acid alpha glucosidase [Enzymatic activity/volume] in DBS

Term Description

This is a newborn screening test to detect enzymatic activity in dried blood spot to screen for Pompe disease, which is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially in muscles, impairs their ability to function normally. Major features of Pompe disease include muscle weakness, heart abnormalities, and breathing problems. This disorder is caused by mutations in the GAA gene; it has an autosomal recessive pattern of inheritance.

Part Descriptions

LP14013-4   Acid alpha glucosidase
Alpha (A) glucosidase is an enzyme found in tissue fibroblasts that is useful for delineatig the reason for muscle wasting and ruling out Pompe's disease. Source: Regenstrief Institute

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
Acid alpha glucosidase
Property
CCnc
Time
Pt
System
Bld.dot
Scale
Qn
Method

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.29
Last Updated
Version 2.70 (MIN)
Order vs. Observation
Both

Member of these Panels

LOINC Long Common Name
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-AT German (Austria) Synonyms: Alpha-Glucosidase /BT
el-GR Greek (Greece) Όξινη άλφα γλυκοσιδάση:CCnc:Pt:Bld.dot:Qn:
Synonyms: CCnc Γλυκοσιδάση Όξινη άλφα γλυκοσιδάση
es-MX Spanish (Mexico) Alfa glucosidasa ácida:Concentración catalítica:Punto temporal:DBS:Cuantitativo:
es-ES Spanish (Spain) Alfa glucoxidasa:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
et-EE Estonian (Estonia) Alfaglükosidaas:CCnc:Pt:Vereplekk:Qn:
Synonyms: Juhuslik Kvantitatiivne Veri
fr-CA French (Canada) Alpha-glucosidase acide:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR French (France) Alpha glucosidase acide:Catalytique/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE French (Belgium) Alpha glucosidase acide:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT Italian (Italy) Acido alfa glucosidasi:CCnC:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) zure alfa-glucosidase:enzymatische activiteit/volume:moment:gedroogde bloedspot:kwantitatief:
pl-PL Polish (Poland) Kwaśna alfa-glukozydaza:stężenie katalityczne:punkt w czasie:sucha kropla krwi:ilościowy:
Synonyms: Glukozydaza Kwaśna alfa-glukozydaza
pt-BR Portuguese (Brazil) Alfa glucosidase:#N/A:Pt:SgPapel:Qn:
Synonyms: Glucoinvertase; Glucosidosucrase; Maltase; Maltase-glucoamylase; A-Glucosidase; Pompe disease; GAA; Alpha-1,4-glucosidase; Acid maltase; Catalytic Concentration; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Alfa; Chemistry
ru-RU Russian (Russian Federation) Кислая альфа глюкозидаза:КаталКонц:ТчкВрм:Кр.Сух.капл:Колич:
Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени;Момент
tr-TR Turkish (Turkey) Asit alfa glukozidaz:KtlKons:Zmlı:Kan.nokta:Kant:
zh-CN Chinese (China) Alpha 葡糖苷酶:催化浓度:时间点:全血.斑点:定量型:
Synonyms: Alpha 葡萄糖苷酶;Alpha-1,4-葡糖苷酶;Alpha-1,4-葡萄糖苷酶;Alpha-葡糖苷酶;Alpha-葡萄糖苷酶;A-葡糖苷酶;A-葡萄糖苷酶;GAA;Pompe 氏病;Pompe 病;α-1,4-葡糖苷酶;α-1,4-葡萄糖苷酶;α葡糖苷酶;α-葡糖苷酶;α葡萄糖苷酶;α-葡萄糖苷酶;酸性麦牙糖酶;酸性麦芽糖酵素;酸性麦芽糖酶;麦牙糖酶;麦芽糖酵素;麦芽糖酶 α 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 葡糖基蔗糖酶;葡萄糖苷酶;葡萄糖转化酶;麦牙糖酶;麦芽糖酶;麦芽糖酶-葡糖淀粉酶;麦芽糖酶-葡糖糖化酶 血;血液 酸 阿尔法

Example Units

Unit Source
umol/L/h Example UCUM Units