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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
Release 2.81: AnswerListId: APHL change request; Previous Releases: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation
Observation

Preferred Answer List LL6931-1

AnswerCodeScoreAnswer ID
BorderlineLA4259-3
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value)LA11884-6
One or more tests pendingLA16204-2
Screen NegativeLA34518-3
Screen PositiveLA34519-1
Specimen unacceptable for at least one conditionLA34520-9
Inconclusive Copyright http://snomed.info/sct ID:419984006 Inconclusive (qualifier value)LA9663-1
Not testedLA13538-6

Member of these Panels

LOINCLong Common Name
62300-9Lysosomal disorders newborn screening panel
54089-8Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Niemannova-Pickova choroba A+B:Interpretace:Časový bod:Suchá krevní kapka (DBS):Nominální:
el-GRGreek (Greece)Νόσος Niemann Pick A+B:Imp:Pt:Bld.dot:Nom:
Synonyms: A A,B B Bld.dot CHEM Imp Nom Pt Αίμα Νόσος Niemann Pick A+B
es-ESSpanish (Spain)Enfermedad de Niemann-Pick A+B:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MXSpanish (Mexico)Enfermedad de Niemann Pick A + B:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-CAFrench (Canada)Maladie de Niemann Pick A+B:Impression:Temps ponctuel:Sang sur papier filtre:Nominal:
fr-FRFrench (France)Maladie de Niemann Pick A+B:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
fr-BEFrench (Belgium)Maladie de Niemann Pick A+B:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
it-ITItalian (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-NLDutch (Netherlands)ziekte van Niemann Pick A+B:interpretatie:moment:gedroogde bloedspot:nominaal:
ru-RURussian (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-TRTurkish (Turkey)Niemann Pick hastalığı A+B:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CNChinese (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

LOINCLong Common Name
62300-9Lysosomal disorders newborn screening panel
54089-8Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Niemannova-Pickova choroba A+B novorozenecký screening komentář/diskuze:Text:Časový bod:Suchá krevní kapka (DBS):Narativní:
el-GRGreek (Greece)Νόσος Niemann Pick A+B εξετάσεις διαλογής νεογνών, σχολιασμός-συζήτηση:Txt:Pt:Bld.dot:Nar:
Synonyms: A A,B B Bld.dot CHEM Nar Pt Txt Αίμα εξετάσεις διαλογής νεογνών, σχολιασμός-συζήτηση Νόσος Niemann Pick A+B Σχόλιο
es-ESSpanish (Spain)Enfermedad de Niemann-Pick A+B screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MXSpanish (Mexico)Discusión de comentario sobre detección neonatal A + B de enfermedad de Niemann Pick:Texto:Punto temporal:DBS:Narrativo:
fr-FRFrench (France)Maladie de Niemann Pick A+B déficit dépistage néonatal (commentaire-discussion):Texte:Ponctuel:Sang buvard:Résultat textuel:
fr-BEFrench (Belgium)Maladie de Niemann Pick A+B Commentaires.screening néonatal.discussion:Texte:Temps ponctuel:Sang sur papier filtre:Narratif:
it-ITItalian (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-NLDutch (Netherlands)ziekte van Niemann Pick A+B screening van pasgeborene commentaar-discussie:tekst:moment:gedroogde bloedspot:tekstueel:
ru-RURussian (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-TRTurkish (Turkey)Niemann Pick hastalığı A+B yenidoğan tarama öneri-tartışma:Metin:Zmlı:Kan.nokta:Öykü:
zh-CNChinese (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

TypeSourceReference
ArticleNational Library of MedicineWang 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

LOINCLong Common Name
105458-4Lysosomal and peroxisomal storage disorders panel - DBS
62300-9Lysosomal disorders newborn screening panel
54089-8Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Kyselá sfingomyelináza:Katalytická koncentrace:Časový bod:Suchá krevní kapka (DBS):Kvantitativní:
de-ATGerman (Austria)Synonyms: Sphingomyelinase /BT
el-GRGreek (Greece)Όξινη σφιγγομυελινάση:CCnc:Pt:Bld.dot:Qn:
Synonyms: Bld.dot CCnc CHEM Pt Qn Αίμα Όξινη σφιγγομυελινάση
es-ESSpanish (Spain)Esfingomielinasa ácida:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MXSpanish (Mexico)Esfingomielinasa ácida:Concentración catalítica:Punto temporal:DBS:Cuantitativo:
et-EEEstonian (Estonia)Sfingomüelinaas:CCnc:Pt:Vereplekk:Qn:
Synonyms: Juhuslik Kvantitatiivne Veri
fr-CAFrench (Canada)Acide sphingomyélinase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FRFrench (France)Sphingomyélinase acide:Catalytique/Volume:Ponctuel:Sang buvard:Numérique:
fr-BEFrench (Belgium)Sphingomyélinase acide:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-ITItalian (Italy)Sfingomielinasi acida:CCnC:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NLDutch (Netherlands)zure sfingomyelinase:enzymatische activiteit/volume:moment:gedroogde bloedspot:kwantitatief:
pl-PLPolish (Poland)Kwaśna sfingomielinaza:stężenie katalityczne:punkt w czasie:sucha kropla krwi:ilościowy:
ru-RURussian (Russian Federation)Кислая сфингомиелиназа:КаталКонц:ТчкВрм:Кр.Сух.капл:Колич:
Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени;Момент
tr-TRTurkish (Turkey)Asit sfingomiyelinaz:KtlKons:Zmlı:Kan.nokta:Kant:
zh-CNChinese (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

UnitSource
umol/L/hExample UCUM Units