Version 2.78

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

Additional Names

Short Name
LSD DBS-Imp
Display Name
Lysosomal storage disorders (DBS) [Interp]
Consumer Name Alpha Get Info
Lysosomal storage disorders, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.71
Change Reason
Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation
Observation

Preferred Answer List LL840-0

Answer Code Score Answer ID
In range LA18592-8
Borderline LA4259-3
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) LA11884-6
Out of range LA18593-6
Out of range requiring further dried blood spot testing for at least one condition LA12430-7
Out of range requiring immediate referral LA25817-0
Out of range requiring immediate second-tier testing for at least one condition LA12431-5
Out of range requiring deferred follow-up for at least one condition LA18594-4
One or more tests pending LA16204-2
Specimen unsatisfactory for at least one condition LA16205-9

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
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
es-ES Spanish (Spain) Trastornos de almacenamiento lisosomal:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX Spanish (Mexico) Trastornos por almacenamiento lisosómico:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-FR French (France) Maladie lysosomiales: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

90923-4 Lysophosphatidylcholine(26:0) [Mass/volume] in DBS

Part Descriptions

LP200432-5   Lysophosphatidylcholine(26:0)
Lysophosphatidylcholine(26:0), or LysoPC(26:0), is a lysophospholipid (LyP) and diagnostic marker for X-linked adrenoleukodystrophy (X-ALD), peroxisomal biogenesis disorders (PBD) and single enzyme defects (SED) of peroxisomal fatty acid oxidation. PMID: 19423374 For newborn screening, 26:0 lyso-PC is measured in dried blood spots (DBS) for the diagnosis, monitoring and treatment of X-ALD other peroxisomal disorders. Source: Regenstrief LOINC

Fully-Specified Name

Component
Lysophosphatidylcholine(26:0)
Property
MCnc
Time
Pt
System
Bld.dot
Scale
Qn
Method

Additional Names

Short Name
LysoPC(26:0) DBS-mCnc
Display Name
LysoPC(26:0) (DBS) [Mass/Vol]
Consumer Name Alpha Get Info
LysoPC(26:0), Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.65
Last Updated
Version 2.65
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
105457-6 Lysophosphatidylcholines panel - DBS
105458-4 Lysosomal and peroxisomal storage disorders panel - DBS

Member of these Groups Get Info

LOINC Group Group Name
LG50129-2 Lysophosphatidylcholine(26:0)|Pt|Bld.dot|635.908 g/mole

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Lisofosfatidilcolina (26:0):Concentración de masa:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Lisofosfatidilcolina (26:0):Concentración de masa:Punto temporal:DBS:Cuantitativo
fr-FR French (France) Lysophosphatidylcholine(26:0):Masse/Volume:Ponctuel:Sang buvard:Numérique:
it-IT Italian (Italy) Lisofosfatidilcolina(26:0):MCnc:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) lysofosfatidylcholine(26:0):massa/volume:moment:gedroogde bloedspot:kwantitatief:
tr-TR Turkish (Turkey) Lizofosfatidilkolin(26:0):KütlKons:Zmlı:Kan.nokta:Kant:
zh-CN Chinese (China) 溶血磷脂酰胆碱(26:0):质量浓度:时间点:全血.斑点:定量型:
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 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 水平;浓度;质量浓度(单位体积) 溶血磷脂胆碱(26:0);溶血卵磷脂(26:0);溶血性磷脂酰胆碱(26:0) 血;血液

Example Units

Unit Source
ug/dL Example UCUM Units

90922-6 Lysophosphatidylcholine(24:0) [Mass/volume] in DBS

Part Descriptions

LP269796-1   Lysophosphatidylcholine(24:0)
Lysophosphatidylcholine(24:0), or LysoPC(24:0), is a lysophospholipid (LyP). It is a monoglycerophospholipid in which a phosphorylcholine moiety occupies a glycerol substitution site Further, LysolPC(24:0) consists of one chain of lignoceric acid at the C-1 (sn-1) position. [HMDB ID: 0010405] LysoPC(24:0) is measured in dried blood spots (DBS) and used in conjunction with other Lysophosphatidylcholines for the diagnosis, monitoring and treatment of X-ALD other peroxisomal disorders. Source: Regenstrief LOINC

Fully-Specified Name

Component
Lysophosphatidylcholine(24:0)
Property
MCnc
Time
Pt
System
Bld.dot
Scale
Qn
Method

Additional Names

Short Name
LysoPC(24:0) DBS-mCnc
Display Name
LysoPC(24:0) (DBS) [Mass/Vol]
Consumer Name Alpha Get Info
LysoPC(24:0), Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.65
Last Updated
Version 2.65
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
105457-6 Lysophosphatidylcholines panel - DBS
105458-4 Lysosomal and peroxisomal storage disorders panel - DBS

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Lisofosfatidilcolina (24:0):Concentración de masa:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Lisofosfatidilcolina (24:0):Concentración de masa:Punto temporal:DBS:Cuantitativo
fr-FR French (France) Lysophosphatidylcholine(24:0):Masse/Volume:Ponctuel:Sang buvard:Numérique:
it-IT Italian (Italy) Lisofosfatidilcolina(24:0):MCnc:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco
zh-CN Chinese (China) 溶血磷脂酰胆碱(24:0):质量浓度:时间点:全血.斑点:定量型:
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 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 水平;浓度;质量浓度(单位体积) 溶血磷脂胆碱(24:0);溶血卵磷脂(24:0);溶血性磷脂酰胆碱(24:0) 血;血液

Example Units

Unit Source
ug/dL Example UCUM Units

90921-8 Lysophosphatidylcholine(22:0) [Mass/volume] in DBS

Part Descriptions

LP269794-6   Lysophosphatidylcholine(22:0)
Lysophosphatidylcholine(22:0), or LysoPC(22:0), is a lysophospholipid (LyP); it is a monoglycerophospholipid in which a phosphorylcholine moiety occupies a glycerol substitution site. Further, LysoPC(22:0) consists of one chain of behenic acid at the C-1 (sn-1) position. [HMDB ID: 0010398] LysoPC(22:0) is measured in dried blood spots (DBS) and used in conjunction with other Lysophosphatidylcholines for the diagnosis, monitoring and treatment of X-ALD other peroxisomal disorders. Source: Regenstrief LOINC

Fully-Specified Name

Component
Lysophosphatidylcholine(22:0)
Property
MCnc
Time
Pt
System
Bld.dot
Scale
Qn
Method

Additional Names

Short Name
LysoPC(22:0) DBS-mCnc
Display Name
LysoPC(22:0) (DBS) [Mass/Vol]
Consumer Name Alpha Get Info
LysoPC(22:0), Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.65
Last Updated
Version 2.65
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
105457-6 Lysophosphatidylcholines panel - DBS
105458-4 Lysosomal and peroxisomal storage disorders panel - DBS

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Lisofosfatidilcolina (22:0):Concentración de masa:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Lisofosfatidilcolina (22:0):Concentración de masa:Punto temporal:DBS:Cuantitativo
fr-FR French (France) Lysophosphatidylcholine(22:0):Masse/Volume:Ponctuel:Sang buvard:Numérique:
it-IT Italian (Italy) Lisofosfatidilcolina(22:0):MCnc:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco
zh-CN Chinese (China) 溶血磷脂酰胆碱(22:0):质量浓度:时间点:全血.斑点:定量型:
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 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 水平;浓度;质量浓度(单位体积) 溶血磷脂胆碱(22:0);溶血卵磷脂(22:0);溶血性磷脂酰胆碱(22:0) 血;血液

Example Units

Unit Source
ug/dL Example UCUM Units

90920-0 Lysophosphatidylcholine(20:0) [Mass/volume] in DBS

Part Descriptions

LP269795-3   Lysophosphatidylcholine(20:0)
Lysophosphatidylcholine(20:0), or LysoPC(20:0), lysophospholipid (LyP); it is a monoglycerophospholipid in which a phosphorylcholine moiety occupies a glycerol substitution site, more specificially it consists of one chain of arachidic acid at the C-1 (sn-1) position. [HMDB ID: 0010390]

LysoPC(20:0) is an endogenously present analog of LysoPC(26:0). LysoPC(20:0) levels are measured in dried blood spots (DBS) and are used with Lysophosphatidylcholine(26:0) levels as a ratio (LysoPC26:0/LysoPC20:0) to monitor increases in LysoPC(26:0) accumulation in patients with X-linked adrenoleukodystrophy (X-ALD). PMID: 27331004 Source: Regenstrief LOINC

Fully-Specified Name

Component
Lysophosphatidylcholine(20:0)
Property
MCnc
Time
Pt
System
Bld.dot
Scale
Qn
Method

Additional Names

Short Name
LysoPC(20:0) DBS-mCnc
Display Name
LysoPC(20:0) (DBS) [Mass/Vol]
Consumer Name Alpha Get Info
LysoPC(20:0), Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.65
Last Updated
Version 2.65
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
105457-6 Lysophosphatidylcholines panel - DBS
105458-4 Lysosomal and peroxisomal storage disorders panel - DBS

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Lisofosfatidilcolina (20:0):Concentración de masa:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Lisofosfatidilcolina (20:0):Concentración de masa:Punto temporal:DBS:Cuantitativo
fr-FR French (France) Lysophosphatidylcholine(20:0):Masse/Volume:Ponctuel:Sang buvard:Numérique:
it-IT Italian (Italy) Lisofosfatidilcolina(20:0):MCnc:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco
zh-CN Chinese (China) 溶血磷脂酰胆碱(20:0):质量浓度:时间点:全血.斑点:定量型:
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 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 水平;浓度;质量浓度(单位体积) 溶血磷脂胆碱(20:0);溶血卵磷脂(20:0);溶血性磷脂酰胆碱(20:0) 血;血液

Example Units

Unit Source
ug/dL Example UCUM Units

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

Additional Names

Short Name
Iduronate2Sulfatas DBS-cCnc
Display Name
Iduronate-2-Sulfatase (DBS) [Catalytic activity/Vol]
Consumer Name Alpha Get Info
Iduronate-2-Sulfatase, Dried blood spot

Basic Attributes

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

Member of these Panels

LOINC Long Common Name
105458-4 Lysosomal and peroxisomal storage disorders panel - DBS
104188-8 Mucopolysaccharidosis type II newborn screening panel

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Iduronato 2-Sulfatasa:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Iduronato-2-sulfatasa:Concentración catalítica:Punto temporal:DBS: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

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

Additional Names

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

Basic Attributes

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

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
105458-4 Lysosomal and peroxisomal storage disorders panel - DBS
62300-9 Lysosomal storage disorders newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
de-AT German (Austria) Synonyms: Alpha-Iduronidase /BT
es-ES Spanish (Spain) Alfa-L-iduronidasa:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Alfa-L-iduronidasa:Concentración catalítica:Punto temporal:DBS: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

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.
Source: Regenstrief LOINC

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

Additional Names

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

Basic Attributes

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

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
105458-4 Lysosomal and peroxisomal storage disorders panel - DBS
62300-9 Lysosomal storage disorders newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
de-AT German (Austria) Synonyms: Alpha-Galaktosidase /BT
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

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

Additional Names

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

Basic Attributes

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

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
105458-4 Lysosomal and peroxisomal storage disorders panel - DBS
62300-9 Lysosomal storage disorders newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Galactosilceramidasa:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Galactosilceramidasa:Concentración catalítica:Punto temporal:DBS: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

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.
Source: Regenstrief LOINC

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

Additional Names

Short Name
Acid A-Glucosidase DBS-cCnc
Display Name
Acid alpha glucosidase (DBS) [Catalytic activity/Vol]
Consumer Name Alpha Get Info
Acid alpha glucosidase, Dried blood spot

Basic Attributes

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

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
105458-4 Lysosomal and peroxisomal storage disorders panel - DBS
62300-9 Lysosomal storage disorders newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
de-AT German (Austria) Synonyms: Alpha-Glucosidase /BT
es-ES Spanish (Spain) Alfa glucoxidasa:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Alfa glucosidasa ácida:Concentración catalítica:Punto temporal:DBS: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

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

Additional Names

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

Basic Attributes

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

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
105458-4 Lysosomal and peroxisomal storage disorders panel - DBS
62300-9 Lysosomal storage disorders newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
de-AT German (Austria) Synonyms: Sphingomyelinase /BT
es-ES Spanish (Spain) Esfingomielinasa ácida:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Esfingomielinasa ácida:Concentración catalítica:Punto temporal:DBS: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

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

Part Descriptions

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

Reference Information

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

Observation Required in Panel

Conditional

Fully-Specified Name

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

Additional Names

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

Basic Attributes

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

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
105458-4 Lysosomal and peroxisomal storage disorders panel - DBS
62300-9 Lysosomal storage disorders newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
de-DE German (Germany) Beta-Glucosidase:Katalytische Konzentration:Zeitpunkt:Blut.Tropfen:Quantitativ:
es-ES Spanish (Spain) Glucosilceramidasa:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Glucosilceramidasa:Concentración catalítica:Punto temporal:DBS: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