Version 2.80

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-BE French (Belgium) Maladie de Fabry:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
fr-FR French (France) Maladie de Fabry:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
fr-CA French (Canada) Maladie de Fabry:Impression: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-BE French (Belgium) Maladie de Fabry Commentaires.screening néonatal.discussion:Texte:Temps ponctuel:Sang sur papier filtre:Narratif:
fr-FR French (France) Maladie de Fabry dépistage néonatal (commentaire-discussion):Texte:Ponctuel:Sang buvard:Résultat textuel:
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-ES Spanish (Spain) Alfa galactosidasa A:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Alfa galactosidasa A:Concentración catalítica:Punto temporal:DBS: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