Version 2.80

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-ES Spanish (Spain) Enfermedad de Pompe:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX Spanish (Mexico) Enfermedad de Pompe:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
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-BE French (Belgium) 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:
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