Version 2.78

57721-3 Reason for lab test in Dried blood spot

Term Description

Definitions of answer codes for reason for newborn screen lab test in dried blood spot:

Initial Screen: This answer code is used for the first screen performed on an infant after birth. When the first specimen obtained is of unacceptable quality and cannot be used, a replacement specimen is still considered the initial screen. When an initial screen is performed before 24 hrs because of a planned transfusion or an extremely ill infant, it is still considered the initial screen even though it may need to be repeated later.

Subsequent screen - required by law: This answer code is used for mandatory second screens as required by law and assumes that the first screen was normal and that the second screen was performed only because it was mandated by law. For example, [give name of state(s)] currently performs a second screen on every infant born in the state at a particular point in time, such as between 1 and 2 weeks. The purpose of identifying the reason for a subsequent screen is that it will change the expected time interval when the subsequent screen should be performed.

Subsequent screen - required by protocol: This answer code is used for subsequent screens that are performed because of clinical conditions in the newborn that require a repeat screen as specified by a protocol to assure valid test results. Many of these subsequent screens have abnormal or out-of-range results on the initial screen that can be explained by the clinical condition of the infant. Typical examples include premature infants, infants who receive blood product transfusions, and infants who are receiving intravenous alimentation. This category should not include abnormal tests that should be considered presumptive positives (which would require a diagnostic evaluation rather than a repeat screen by protocol). The purpose of identifying the reason for a subsequent screen is that it will change the expected time interval when the subsequent screen should be performed.


Subsequent screen - for clarification of initial results (not by law or protocol): When the results of the initial screen are abnormal or out of range, many states perform an "immediate" repeat screen to confirm the results before considering the test a presumptive positive that will require a diagnostic evaluation. Many of these results may be considered or reported as equivocal or borderline until a clear abnormality is confirmed on the subsequent screen. This category does not include abnormal or borderline results for which there is a clear clinical explanation, such as prematurity, for which there is a clear protocol for obtaining a second screen. The purpose of identifying the reason for a subsequent screen is that it will change the expected time interval when the subsequent screen should be performed.

Subsequent screen - reason unknown: The purpose of identifying the reason for a subsequent screen is that it will change the expected time interval when the subsequent screen should be performed. States should use this answer code if they are unable to identify the specific reason for a subsequent screen, but they are able to separate initial screens from subsequent screens. The reason for the second screen might be any of the above. A repeat initial screen because the first specimen was of unacceptable quality should not be considered a subsequent screen, but some states may use this code if they are unable to track that the reason for a second specimen was unacceptable quality of the first screen.

No sample collected due to parental refusal: This answer code is used to document parental refusal of newborn screening so that a report can be generated which will contain no test results because no specimen was submitted. This will enable complete matching of newborn screening results to all infants born even if no laboratory testing was performed.
Source: Regenstrief LOINC

Observation Required in Panel

Required

Fully-Specified Name

Component
Reason for lab test
Property
Type
Time
Pt
System
Bld.dot
Scale
Nom
Method

Additional Names

Panel Name
Short Name
Reason for lab test DBS
Display Name
Reason for lab test Nom (DBS)
Consumer Name Alpha Get Info
Reason for lab test, Dried blood spot

Basic Attributes

Class
MISC
Type
Laboratory
First Released
Version 2.29
Last Updated
Version 2.73
Order vs. Observation
Observation
Common Test Rank Get Info
13935

Normative Answer List LL831-9

Answer Code Score Answer ID
Initial screen LA12421-6
Subsequent screen - required by law LA12425-7
Subsequent screen - required by protocol LA12426-5
Subsequent screen - for clarification of initial results (not by law or protocol) LA12427-3
Subsequent screen - reason unknown LA16473-3
No sample collected due to parental refusal LA14132-7

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)
57794-0 Newborn screening test results panel - DBS

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Motivo de la prueba de laboratorio:Tipo:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX Spanish (Mexico) Razón de la prueba de laboratorio:Tipo:Punto temporal:DBS:Nominal:
fr-BE French (Belgium) Justification des tests de labo:Type:Temps ponctuel:Sang sur papier filtre:Nominal:
fr-CA French (Canada) Indication de l'examen de laboratoire:Type:Temps ponctuel:Sang sur papier filtre:Nominal:
fr-FR French (France) Motif du test en laboratoire:Type:Ponctuel:Sang buvard:Résultat nominal:
it-IT Italian (Italy) Motivo di prova di laboratorio:Tipo:Pt:Sangue.su carta da filtro:Nom:
Synonyms: Miscellanea Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) reden voor labtest:type:moment:gedroogde bloedspot:nominaal:
pt-BR Portuguese (Brazil) Razão para teste de laboratório:Tipo:Pt:SgPapel:Nom:
Synonyms: Typ; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Nominal
ru-RU Russian (Russian Federation) Причина лабораторный тест:Тип:ТчкВрм:Кр.Сух.капл:Ном:
Synonyms: Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR Turkish (Turkey) Sebep lab testi için:Tip:Zmlı:Kan.nokta:Snf:
Synonyms: Tür
zh-CN Chinese (China) 关于实验室检验项目的原因:类型: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) 关于实验室检验项目的理由;关于检验项目的原因;关于化验项目的原因;关于试验项目的原因 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 型 时刻;随机;随意;瞬间 杂项;杂项类;杂项试验 血;血液

57718-9 Sample quality of Dried blood spot

Observation Required in Panel

Required

Fully-Specified Name

Component
Sample condition
Property
Type
Time
Pt
System
Bld.dot
Scale
Nom
Method

Additional Names

Panel Name
Short Name
Sample quality of DBS
Display Name
Sample condition Nom (DBS)
Consumer Name Alpha Get Info
Sample condition, Dried blood spot

Basic Attributes

Class
SPEC
Type
Laboratory
First Released
Version 2.29
Last Updated
Version 2.73
Change Reason
Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation
Observation
Common Test Rank Get Info
18177

Preferred Answer List LL832-7

Answer Code Score Answer ID
Acceptable LA12432-3
No sample received LA12433-1
Specimen damaged during transport LA20623-7
Specimen received in sealed plastic container LA20624-5
Specimen quantity insufficient due to incomplete saturation (blood did not soak through paper) Copyright http://snomed.info/sct ID:281268007 Insufficient sample (finding) LA20625-2
Specimen quantity insufficient because blood did not completely fill specimen circles Copyright http://snomed.info/sct ID:281268007 Insufficient sample (finding) LA20626-0
Specimen has uneven saturation LA20627-8
Specimen appears scratched or abraded LA12682-3
Specimen not dry before mailing LA12683-1
Specimen appears supersaturated LA12684-9
Specimen appears diluted, discolored or contaminated LA12685-6
Specimen exhibits serum rings LA12686-4
Specimen appears clotted or layered LA12435-6
Specimen not eluting LA20628-6
No blood LA12687-2
Sample too old LA12441-4
Testing of this specimen indicates more than one source of blood is present on the filter paper card LA20630-2
Unsuitable for other reasons LA20629-4

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
74874-9 Metabolic disorder therapy monitoring panel - DBS
54089-8 Newborn screening panel American Health Information Community (AHIC)
57794-0 Newborn screening test results panel - DBS

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Condición de la muestra:Tipo:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX Spanish (Mexico) Condición de la muestra:Tipo:Punto temporal:DBS:Nominal:
fr-FR French (France) Échantillon condition:Type:Ponctuel:Sang buvard:Résultat nominal:
fr-BE French (Belgium) Condition échantillon:Type:Temps ponctuel:Sang sur papier filtre:Nominal:
fr-CA French (Canada) Qualité de l'échantillon:Type:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT Italian (Italy) Campione, condizione:Tipo:Pt:Sangue.su carta da filtro:Nom:
Synonyms: Caratteristiche campione Condizione del campione Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) monsterconditie:type:moment:gedroogde bloedspot:nominaal:
pt-BR Portuguese (Brazil) Condição da amostra:Tipo:Pt:SgPapel:Nom:
Synonyms: Typ; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Nominal
ru-RU Russian (Russian Federation) Образец состояние:Тип:ТчкВрм:Кр.Сух.капл:Ном:
Synonyms: Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR Turkish (Turkey) Örnek koşulu:Tip:Zmlı:Kan.nokta:Snf:
Synonyms: Tür
zh-CN Chinese (China) 标本状况:类型:时间点:全血.斑点:名义型:
Synonyms: 健康状况;疾病;情况;病情;状态;条件 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 型 时刻;随机;随意;瞬间 标本（样本、样品、试样）状况（状态、情况）;样本状态;样本情况 标本;标本信息;标本类 血;血液

57130-7 Newborn screening report - overall interpretation

Term Description

Reports the summary interpretation of the screening test from a short list of specified codes (to be developed by the NBS community)
Source: Regenstrief LOINC

Condition for Inclusion

If the state reports a summary impression.

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Newborn screening report - overall interpretation
Property
Imp
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Panel Name
Short Name
NBS report - overall interp
Display Name
NBS report - overall interpretation [Interp]
Consumer Name Alpha Get Info
NBS report - overall interpretation

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.29
Last Updated
Version 2.73
Order vs. Observation
Observation
Common Test Rank Get Info
1845

Example Answer List LL771-7

Answer Code Score Answer ID
All screening is in range for the conditions tested LA12428-1
Screen is borderline for at least one condition LA12429-9
Screen is indeterminate for at least one condition LA18943-3
Screen is out of range for at least one condition LA18944-1
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
Screening not done due to parental refusal LA14133-5
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
54089-8 Newborn screening panel American Health Information Community (AHIC)
57794-0 Newborn screening test results panel - DBS

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Informe del cribado del recién nacido-interpretación general:Impresión/interpretación del estudio:Punto temporal:^paciente:Nom:
es-MX Spanish (Mexico) Informe de detección del recién nacido:interpretación general:Impresión / interpretación del estudio:Punto temporal:^ Paciente:Nominal
fr-FR French (France) Compte rendu dépistage néonatal - Interprétation:Interprétation:Ponctuel:Patient:Résultat nominal:
fr-BE French (Belgium) Rapport screening néonatal - interprétation générale:Impression/interprétation d'étude:Temps ponctuel:^Patient:Nominal:
it-IT Italian (Italy) Screening neonatale, referto - interpretazione generale:Imp:Pt:^Paziente:Nom:
Synonyms: Chimica Impressione/interpretazione di studio Interpretazione generale di referto di screening n paziente Punto nel tempo (episodio) Referto
nl-NL Dutch (Netherlands) pasgeborene screening rapport - overall interpretatie:interpretatie:moment:^patiënt:nominaal:
pt-BR Portuguese (Brazil) Relatório de triagem neonatal - interpretação global:#N/A:Pt:^Paciente:Nom:
Synonyms: ; NBS report - overall interp; Interp; Intrp; Interpret; Interpt; Impression; Impressions; Point in time; Random; Nominal; SCN; Asymptomatic; Asympt; Chemistry
ru-RU Russian (Russian Federation) Новорождённый скрининг отчёт - общая интерпретация:Впчт:ТчкВрм:^Пациент:Ном:
Synonyms: Впечатление/интерпретация исследования Номинальный;Именной Точка во времени;Момент
tr-TR Turkish (Turkey) Yenidoğan tarama raporu - genel yorum:İzlnm:Zmlı:^Hasta:Snf:
zh-CN Chinese (China) 新生儿筛查报告 - 总体解释:印象:时间点:^患者:名义型:
Synonyms: Asympt SCN 全面;整体;总体情况 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 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 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 报道;汇报;调查报告;报表;报导 新生儿（NB）筛查（筛选、过筛、筛检）报告 - 总体（整体、宏观、大体、概括）解释（说明、阐释、诠释） 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 筛分 筛分试验 筛查（Screening，SCN） 筛查试验 筛选 筛选试验

57131-5 Newborn conditions with positive markers [Identifier] in DBS

Term Description

This variable list the conditions that that the markers suggest may be present. It is a coded result intended for easy access by decision support systems to identify the cases that need special attention. The LOINC code will include an answer list that covers all of the conditions screened for by any state. States would only make statements about the conditions they screen for. (This item is still under discussion by the NBS community and subject to change)
Source: Regenstrief LOINC

Observation Required in Panel

Required

Fully-Specified Name

Component
Newborn conditions with positive markers
Property
Prid
Time
Pt
System
Bld.dot
Scale
Nom
Method

Additional Names

Panel Name
Short Name
NB conditions positive DBS
Display Name
Newborn conditions with positive markers Nom (DBS)
Consumer Name Alpha Get Info
Newborn conditions with positive markers, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.29
Last Updated
Version 2.73
Change Reason
Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation
Observation
Common Test Rank Get Info
17418

Preferred Answer List LL835-0

Answer Code Score Answer ID
None Copyright http://snomed.info/sct ID:260413007 None (qualifier value) LA137-2
Hearing loss Copyright http://snomed.info/sct ID:15188001 Hearing loss (disorder) HEAR LA24366-9
2-Methyl-3-hydroxybutyric aciduria Copyright http://snomed.info/sct ID:791000124107 2-methyl-3-hydroxybutyric aciduria (disorder) 2M3HBA LA12464-6
2-Methylbutyrylglycinuria Copyright http://snomed.info/sct ID:445596006 2-methylbutyrylglycinuria (disorder) 2MBG LA12465-3
3-Methylcrotonyl-CoA carboxylase deficiency Copyright http://snomed.info/sct ID:13144005 Methylcrotonyl-coenzyme A carboxylase deficiency (disorder) 3-MCC LA12466-1
3-Methylcrotonyl-CoA carboxylase deficiency (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) 3-MCC (mat) LA12467-9
3-Methylglutaconic aciduria Copyright http://snomed.info/sct ID:237950009 3-Methylglutaconic aciduria (disorder) 3MGA LA12468-7
Pyroglutamic acidemia Copyright http://snomed.info/sct ID:39112005 Glutathione synthase deficiency with 5-oxoprolinuria (disorder) 5-OXO LA12469-5
Argininemia ARG LA21161-7
Argininosuccinic aciduria ASA LA21162-5
Biopterin defect in cofactor biosynthesis Copyright http://snomed.info/sct ID:237914002 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder) BIOPT-BS LA12472-9
Biopterin defect in cofactor regeneration Copyright http://snomed.info/sct ID:58256000 Dihydropteridine reductase deficiency (disorder) BIOPT-REG LA12473-7
Beta-ketothiolase deficiency Copyright http://snomed.info/sct ID:237953006 Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated (disorder) BKT LA12474-5
Carnitine acylcarnitine translocase deficiency Copyright http://snomed.info/sct ID:238003000 Carnitine acylcarnitine translocase deficiency (disorder) CACT LA12475-2
Cobalamin A disease Copyright http://snomed.info/sct ID:73843004 Cobalamin A disease (disorder) CBL A LA12476-0
Cobalamin B disease Copyright http://snomed.info/sct ID:82245003 Cobalamin B disease (disorder) CBL B LA12477-8
Cobalamin C disease Copyright http://snomed.info/sct ID:74653006 Cobalamin C disease (disorder) CBL C LA12478-6
Cobalamin D disease Copyright http://snomed.info/sct ID:31220004 Cobalamin D disease (disorder) CBL D LA12479-4
Cobalamin E disease Copyright http://snomed.info/sct ID:360373000 Homocystinuria vitamin B12-responsive type III (disorder) CBL E LA12480-2
CBL G type Methylcobalamin deficiency Copyright http://snomed.info/sct ID:721187005 Methylcobalamin deficiency type cbl G (disorder) CBL G LA12481-0
Citrullinemia, type I Copyright http://snomed.info/sct ID:398680004 Citrullinemia (disorder) CIT-I LA12482-8
Citrullinemia, type II Copyright http://snomed.info/sct ID:716863007 Citrullinemia type II (disorder) CIT-II LA12483-6
Carbamoyl-phosphate synthase deficiency Copyright http://snomed.info/sct ID:62522004 Congenital hyperammonemia, type I (disorder) CPS LA12484-4
Carnitine palmitoyltransferase type I deficiency Copyright http://snomed.info/sct ID:238001003 Carnitine palmitoyltransferase I deficiency (disorder) CPT-Ia LA12485-1
Carnitine palmitoyltransferase type II deficiency Copyright http://snomed.info/sct ID:238002005 Carnitine palmitoyltransferase II deficiency (disorder) CPT-II LA12486-9
Carnitine uptake deficiency/carnitine transport defect Copyright http://snomed.info/sct ID:21764004 Renal carnitine transport defect (disorder) CUD LA12487-7
Carnitine uptake deficiency/carnitine transport defect (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) CUD (mat) LA12488-5
2,4-Dienoyl-CoA reductase deficiency Copyright http://snomed.info/sct ID:444944006 Deficiency of 2,4-dienoyl-coenzyme A reductase (disorder) De-Red LA12489-3
Dihydrolipoamide dehydrogenase deficiency Copyright http://snomed.info/sct ID:29914000 Dihydrolipoamide dehydrogenase deficiency (disorder) E3 LA12490-1
Ethylmalonic encephalopathy Copyright http://snomed.info/sct ID:723307008 Ethylmalonic encephalopathy (disorder) EMA LA12491-9
Formiminoglutamic acidemia Copyright http://snomed.info/sct ID:59761008 Glutamate formiminotransferase deficiency (disorder) FIGLU LA12492-7
Glutaric acidemia type I Copyright http://snomed.info/sct ID:76175005 Glutaric aciduria, type 1 (disorder) GA-1 LA12493-5
Glutaric acidemia (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) GA-1 (mat) LA12494-3
Glutaric acidemia type II Copyright http://snomed.info/sct ID:22886006 Glutaric aciduria, type 2 (disorder) GA-2 LA12495-0
Homocystinuria Copyright http://snomed.info/sct ID:11282001 Homocystinuria (disorder) HCY LA12496-8
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Copyright http://snomed.info/sct ID:30287008 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder) HHH LA12497-6
Histidinemia Copyright http://snomed.info/sct ID:410058007 Histidinemia (disorder) HIS LA12498-4
3-Hydroxy-3-methylglutaric aciduria Copyright http://snomed.info/sct ID:410059004 Hydroxymethylglutaric aciduria (disorder) HMG LA12499-2
Hyperphenylalaninemia (variant, benign) Copyright http://snomed.info/sct ID:68528007 Hyperphenylalaninemia (disorder) H-PHE LA12500-7
Hyperlysinemia Copyright http://snomed.info/sct ID:58558003 Hyperlysinemia (disorder) Hyper LYS LA12501-5
Girate atrophy of the retina Copyright http://snomed.info/sct ID:314467007 Gyrate atrophy (disorder) Hyper ORN LA12502-3
Valinemia Copyright http://snomed.info/sct ID:47719001 Hypervalinemia (disorder) Hyper VAL LA12503-1
Isobutyrylglycinuria Copyright http://snomed.info/sct ID:445571008 Isobutyrylglycinuria (disorder) IBG LA12504-9
Isovaleric acidemia Copyright http://snomed.info/sct ID:87827003 Isovaleryl-coenzyme A dehydrogenase deficiency (disorder) IVA LA12505-6
Primary lactic acidemia Copyright http://snomed.info/sct ID:190882007 Lactic acidemia (disorder) LACTIC LA12506-4
Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:307127004 Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency (disorder) LCHAD LA12507-2
Malonic acidemia Copyright http://snomed.info/sct ID:124594007 Deficiency of malonyl-coenzyme A decarboxylase (disorder) MAL LA12508-0
Medium-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:128596003 Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder) MCAD LA12509-8
Holoocarboxylase synthase deficiency Copyright http://snomed.info/sct ID:360369003 Holocarboxylase synthase deficiency (disorder) MCD LA12510-6
Medium-chain ketoacyl-CoA thiolase deficiency Copyright http://snomed.info/sct ID:124265004 Deficiency of acetyl-coenzyme A acyltransferase (disorder) MCKAT LA12511-4
Hypermethioninemia Copyright http://snomed.info/sct ID:43123004 Hypermethioninemia (disorder) MET LA12512-2
Maple syrup urine disease Copyright http://snomed.info/sct ID:27718001 Maple syrup urine disease (disorder) MSUD LA21168-2
Methylene tetrahydrofolate reductase deficiency Copyright http://snomed.info/sct ID:41797007 5,10-Methylenetetrahydrofolate reductase deficiency (disorder) MTHFR LA12514-8
Methylmalonic acidemia Copyright http://snomed.info/sct ID:124680001 Deficiency of methylmalonyl-coenzyme A mutase (disorder) MUT LA12515-5
Nonketotic hyperglycinemia (glycine encephalopathy) Copyright http://snomed.info/sct ID:237939006 Non-ketotic hyperglycinemia (disorder) NKHG LA12516-3
Hydroxyprolinemia Copyright http://snomed.info/sct ID:25739007 Hyperhydroxyprolinemia (disorder) OH PRO LA12517-1
Ornithine transcarbamylase deficiency Copyright http://snomed.info/sct ID:80908008 Ornithine carbamoyltransferase deficiency (disorder) OTC LA12518-9
Pyruvate carboxylase deficiency Copyright http://snomed.info/sct ID:87694001 Pyruvate carboxylase deficiency (disorder) PC LA12519-7
Classic phenylketonuria Copyright http://snomed.info/sct ID:7573000 Classical phenylketonuria (disorder) PKU LA12520-5
Hyperprolinemia type I Copyright http://snomed.info/sct ID:61071003 Proline dehydrogenase deficiency (disorder) PRO I LA12521-3
Hyperprolinemia type II Copyright http://snomed.info/sct ID:717181004 Hyperprolinemia type 2 (disorder) PRO II LA12522-1
Propionic acidemia Copyright http://snomed.info/sct ID:69080001 Propionic acidemia (disorder) PROP LA12523-9
Short-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:124166007 Deficiency of butyryl-CoA dehydrogenase (disorder) SCAD LA12524-7
Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237998000 Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) SCHAD LA12525-4
Succinyl-CoA ligase deficiency Copyright http://snomed.info/sct ID:445275003 Deficiency of succinate-coenzyme A ligase (disorder) SUCLA2 LA12526-2
Trifunctional protein deficiency Copyright http://snomed.info/sct ID:237999008 Mitochondrial trifunctional protein deficiency (disorder) TFP LA12527-0
Tyrosinemia, type I Copyright http://snomed.info/sct ID:410056006 Tyrosinemia type I (disorder) TYR-I LA12528-8
Tyrosinemia, type II Copyright http://snomed.info/sct ID:4887000 Hypertyrosinemia, Richner-Hanhart type (disorder) TYR-II LA12529-6
Tyrosinemia, type III Copyright http://snomed.info/sct ID:415764005 Tyrosinemia type III (disorder) TYR-III LA12530-4
Very long-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237997005 Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder) VLCAD LA12531-2
Biotinidase deficiency Copyright http://snomed.info/sct ID:8808004 Biotinidase deficiency (disorder) BIO LA12532-0
Congenital adrenal hyperplasia Copyright http://snomed.info/sct ID:237751000 Congenital adrenal hyperplasia (disorder) CAH LA12533-8
Cystic fibrosis Copyright http://snomed.info/sct ID:190905008 Cystic fibrosis (disorder) CF LA22202-8
Primary congenital hypothyroidism Copyright http://snomed.info/sct ID:190268003 Congenital hypothyroidism (disorder) CH LA12538-7
Secondary congenital hypothyroidism Copyright http://snomed.info/sct ID:82598004 Secondary hypothyroidism (disorder) CH2 LA12539-5
Glucose-6-phosphate dehydrogenase deficiency Copyright http://snomed.info/sct ID:124134002 Deficiency of glucose-6-phosphate dehydrogenase (disorder) G6PD LA12540-3
Galactoepimerase deficiency Copyright http://snomed.info/sct ID:8849004 Uridine diphosphate glucose-4-epimerase deficiency (disorder) GALE LA12541-1
Galactokinase deficiency Copyright http://snomed.info/sct ID:124302001 Deficiency of galactokinase (disorder) GALT LA12542-9
Classical galactosemia LA21165-8
Hb C-carrier Copyright http://snomed.info/sct ID:76050008 Hemoglobin C trait (disorder) LA12602-1
Hb D-carrier Copyright http://snomed.info/sct ID:7391009 Hemoglobin D trait (disorder) LA12603-9
Hb E-carrier Copyright http://snomed.info/sct ID:46248003 Hemoglobin E trait (disorder) LA12604-7
Hb O-Arab carrier LA12605-4
Hb S (sickle)-carrier Copyright http://snomed.info/sct ID:16402000 Sickle cell trait (disorder) LA12606-2
Hb C-disease Copyright http://snomed.info/sct ID:51053007 Hemoglobin C disease (disorder) LA12607-0
Hb C beta-thalassemia Copyright http://snomed.info/sct ID:119691000119106 Hemoglobin C/beta thalassemia disease (disorder) LA12608-8
Hb D-disease LA12609-6
Hb D beta-thalassemia Copyright http://snomed.info/sct ID:119701000119106 Hemoglobin D/beta thalassemia disease (disorder) LA12610-4
Hb beta zero-thalassemia Copyright http://snomed.info/sct ID:86715000 Beta zero thalassemia (disorder) LA12611-2
Hb E-disease Copyright http://snomed.info/sct ID:25065001 Hemoglobin E disease (disorder) LA12612-0
Hb E beta-thalassemia Copyright http://snomed.info/sct ID:234392002 Hemoglobin E/beta thalassemia disease (disorder) LA12613-8
Hb SS-disease (sickle cell anemia) Copyright http://snomed.info/sct ID:127040003 Sickle cell-hemoglobin SS disease (disorder) LA12614-6
Hb S beta-thalassemia Copyright http://snomed.info/sct ID:127041004 Sickle cell-beta-thalassemia (disorder) LA12615-3
Hb SC-disease Copyright http://snomed.info/sct ID:35434009 Sickle cell-hemoglobin C disease (disorder) LA12616-1
Hb SD-disease Copyright http://snomed.info/sct ID:25472008 Sickle cell-hemoglobin D disease (disorder) LA12617-9
Hb SE-disease Copyright http://snomed.info/sct ID:47024008 Sickle cell-hemoglobin E disease (disorder) LA12618-7
Hb S O-Arab disease Copyright http://snomed.info/sct ID:127048005 Sickle cell-Hemoglobin O Arab disease (disorder) LA12619-5
Hb S plus Hb other than A,C,D,E,O-Arab disease Copyright http://snomed.info/sct ID:23269001 Double heterozygous sickling disorder (disorder) LA12620-3
Hb disease other than A, C, D, E, H,O-Arab, S Copyright http://snomed.info/sct ID:80141007 Hemoglobinopathy (disorder) LA12621-1
Hb carrier other than C, D, E, S ,O-Arab LA12622-9
Congenital HIV Copyright http://snomed.info/sct ID:52079000 Congenital human immunodeficiency virus infection (disorder) HIV LA12565-0
Severe combined immunodeficiency Copyright http://snomed.info/sct ID:31323000 Severe combined immunodeficiency disease (disorder) SCID LA12566-8
Thyroid-binding globulin deficiency Copyright http://snomed.info/sct ID:237544006 Thyroid-binding globulin deficiency (disorder) TBG LA12567-6
Congenital toxoplasmosis Copyright http://snomed.info/sct ID:73893000 Congenital toxoplasmosis (disorder) TOXO LA12568-4
CIT-I or CIT-II or ASA LA12569-2
HCY or MET or CBL C LA12570-0
PKU or BIPT-BS or BIOPT-REG or H-PHE LA12571-8
TYR-1 or TYR-II or TYR-III LA12572-6
CPT-II or CACT LA12573-4
LCHAD or TFP LA12574-2
MCAD or SCAD or GA-2(MADD) LA12575-9
SCAD or EMA or IBG or GA-2 (MADD) LA12576-7
2M3HBA or BKT-2 LA12577-5
IVA or 2MBG or GA-2 or EMA LA12578-3
PROP or CBL A or CBL B or MUT or CBL C or MCD LA12579-1
3-MCC or 3-MCC (mat) or 3MGA or BKT or HMG or MCD or BIO LA12915-7
CUD or CUD (mat) or CPT-Ia LA12916-5
GA-1 or GA-2 LA12917-3
Fabry disease Copyright http://snomed.info/sct ID:16652001 Fabry's disease (disorder) GLA LA14036-0
Pompe disease Copyright http://snomed.info/sct ID:274864009 Glycogen storage disease due to acid maltase deficiency (disorder) GAA LA14037-8
Krabbe disease Copyright http://snomed.info/sct ID:192782005 Galactosylceramide beta-galactosidase deficiency (disorder) GALC LA14038-6
Gaucher disease Copyright http://snomed.info/sct ID:190794006 Glucosylceramide beta-glucosidase deficiency (disorder) GBA LA14039-4
Niemann Pick disease A/B Copyright http://snomed.info/sct ID:58459009 Sphingomyelin/cholesterol lipidosis (disorder) ASM LA14040-2
Hb H-disease Copyright http://snomed.info/sct ID:48553001 Hemoglobin H disease (disorder) LA16007-9
Hemoglobinopathies Copyright http://snomed.info/sct ID:80141007 Hemoglobinopathy (disorder) LA16207-5
Critical congenital heart disease CCHD LA20349-9
X-linked adrenoleukodystrophy Copyright http://snomed.info/sct ID:65389002 Adrenoleukodystrophy (disorder) X-ALD LA25796-6
Mucopolysaccharidosis type I Copyright http://snomed.info/sct ID:75610003 Mucopolysaccharidosis type I (disorder) MPS-I LA25797-4
Guanidinoacetate N-methyltransferase deficiency Copyright http://snomed.info/sct ID:124239003 Deficiency of guanidinoacetate methyltransferase (disorder) GAMT LA30113-7
L-arginine:glycine amidinotransferase deficiency Copyright http://snomed.info/sct ID:702440000 Cerebral creatine deficiency syndrome 3 (disorder) AGAT LA30114-5
X-linked creatine transporter (CRTR) deficiency Copyright http://snomed.info/sct ID:698290008 X-linked creatine deficiency (disorder) CRTR LA30492-5
Spinal muscular atrophy Copyright http://snomed.info/sct ID:5262007 Spinal muscular atrophy (disorder) SMA LA22279-6
Deficiency of guanidinoacetate methyltransferase (disorder) LA34469-9
Mucopolysaccharidosis type II (disorder) LA34470-7

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)
57794-0 Newborn screening test results panel - DBS

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Estado del recién nacido con marcadores positivos:Presencia o identidad:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX Spanish (Mexico) Condiciones del recién nacido con marcadores positivos:Presencia o identidad:Punto temporal:DBS:Nominal:
fr-FR French (France) Conditions néonatales avec marqueurs présents:Identification:Ponctuel:Sang buvard:Résultat nominal:
fr-BE French (Belgium) Conditions néonatales avec marqueurs positifs:Présence ou identité:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT Italian (Italy) Neonato, condizioni con marcatori positivi:Prid:Pt:Sangue.su carta da filtro:Nom:
Synonyms: Chimica Condizioni del neonato con marcatori positivi Presenza o Identità Punto nel tempo (episodio) Sangue Spot sangue secco
pt-BR Portuguese (Brazil) Condições de recém-nascidos com marcadores positivos:Ident:Pt:SgPapel:Nom:
Synonyms: ; NB conditions positive; Identity or presence; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Nominal; Pos; New born; Chemistry
ru-RU Russian (Russian Federation) Новорождённый состояния с позитивными маркерами:ПрИд:ТчкВрм:Кр.Сух.капл:Ном:
Synonyms: Кровь Кровь сухая капля Номинальный;Именной Присутствие или Идентификация Точка во времени;Момент
tr-TR Turkish (Turkey) Pozitif belirteçli yenidoğan durumları:MevcKimlik:Zmlı:Kan.nokta:Snf:
zh-CN Chinese (China) 带有阳性标志的新生儿健康状况: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 带有阳性标记的新生儿健康状况（状况、情况、病情） 时刻;随机;随意;瞬间 结果阳性 血;血液 试验阳性 试验阳性的 阳性结果

57720-5 Newborn conditions with equivocal markers [Identifier] in DBS

Observation Required in Panel

Required

Fully-Specified Name

Component
Newborn conditions with equivocal markers
Property
Prid
Time
Pt
System
Bld.dot
Scale
Nom
Method

Additional Names

Panel Name
Short Name
NB conditions with equivocal markers
Display Name
Newborn conditions with equivocal markers Nom (DBS)
Consumer Name Alpha Get Info
Newborn conditions with equivocal markers, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.29
Last Updated
Version 2.73
Change Reason
Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation
Observation
Common Test Rank Get Info
17163

Preferred Answer List LL835-0

Answer Code Score Answer ID
None Copyright http://snomed.info/sct ID:260413007 None (qualifier value) LA137-2
Hearing loss Copyright http://snomed.info/sct ID:15188001 Hearing loss (disorder) HEAR LA24366-9
2-Methyl-3-hydroxybutyric aciduria Copyright http://snomed.info/sct ID:791000124107 2-methyl-3-hydroxybutyric aciduria (disorder) 2M3HBA LA12464-6
2-Methylbutyrylglycinuria Copyright http://snomed.info/sct ID:445596006 2-methylbutyrylglycinuria (disorder) 2MBG LA12465-3
3-Methylcrotonyl-CoA carboxylase deficiency Copyright http://snomed.info/sct ID:13144005 Methylcrotonyl-coenzyme A carboxylase deficiency (disorder) 3-MCC LA12466-1
3-Methylcrotonyl-CoA carboxylase deficiency (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) 3-MCC (mat) LA12467-9
3-Methylglutaconic aciduria Copyright http://snomed.info/sct ID:237950009 3-Methylglutaconic aciduria (disorder) 3MGA LA12468-7
Pyroglutamic acidemia Copyright http://snomed.info/sct ID:39112005 Glutathione synthase deficiency with 5-oxoprolinuria (disorder) 5-OXO LA12469-5
Argininemia ARG LA21161-7
Argininosuccinic aciduria ASA LA21162-5
Biopterin defect in cofactor biosynthesis Copyright http://snomed.info/sct ID:237914002 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder) BIOPT-BS LA12472-9
Biopterin defect in cofactor regeneration Copyright http://snomed.info/sct ID:58256000 Dihydropteridine reductase deficiency (disorder) BIOPT-REG LA12473-7
Beta-ketothiolase deficiency Copyright http://snomed.info/sct ID:237953006 Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated (disorder) BKT LA12474-5
Carnitine acylcarnitine translocase deficiency Copyright http://snomed.info/sct ID:238003000 Carnitine acylcarnitine translocase deficiency (disorder) CACT LA12475-2
Cobalamin A disease Copyright http://snomed.info/sct ID:73843004 Cobalamin A disease (disorder) CBL A LA12476-0
Cobalamin B disease Copyright http://snomed.info/sct ID:82245003 Cobalamin B disease (disorder) CBL B LA12477-8
Cobalamin C disease Copyright http://snomed.info/sct ID:74653006 Cobalamin C disease (disorder) CBL C LA12478-6
Cobalamin D disease Copyright http://snomed.info/sct ID:31220004 Cobalamin D disease (disorder) CBL D LA12479-4
Cobalamin E disease Copyright http://snomed.info/sct ID:360373000 Homocystinuria vitamin B12-responsive type III (disorder) CBL E LA12480-2
CBL G type Methylcobalamin deficiency Copyright http://snomed.info/sct ID:721187005 Methylcobalamin deficiency type cbl G (disorder) CBL G LA12481-0
Citrullinemia, type I Copyright http://snomed.info/sct ID:398680004 Citrullinemia (disorder) CIT-I LA12482-8
Citrullinemia, type II Copyright http://snomed.info/sct ID:716863007 Citrullinemia type II (disorder) CIT-II LA12483-6
Carbamoyl-phosphate synthase deficiency Copyright http://snomed.info/sct ID:62522004 Congenital hyperammonemia, type I (disorder) CPS LA12484-4
Carnitine palmitoyltransferase type I deficiency Copyright http://snomed.info/sct ID:238001003 Carnitine palmitoyltransferase I deficiency (disorder) CPT-Ia LA12485-1
Carnitine palmitoyltransferase type II deficiency Copyright http://snomed.info/sct ID:238002005 Carnitine palmitoyltransferase II deficiency (disorder) CPT-II LA12486-9
Carnitine uptake deficiency/carnitine transport defect Copyright http://snomed.info/sct ID:21764004 Renal carnitine transport defect (disorder) CUD LA12487-7
Carnitine uptake deficiency/carnitine transport defect (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) CUD (mat) LA12488-5
2,4-Dienoyl-CoA reductase deficiency Copyright http://snomed.info/sct ID:444944006 Deficiency of 2,4-dienoyl-coenzyme A reductase (disorder) De-Red LA12489-3
Dihydrolipoamide dehydrogenase deficiency Copyright http://snomed.info/sct ID:29914000 Dihydrolipoamide dehydrogenase deficiency (disorder) E3 LA12490-1
Ethylmalonic encephalopathy Copyright http://snomed.info/sct ID:723307008 Ethylmalonic encephalopathy (disorder) EMA LA12491-9
Formiminoglutamic acidemia Copyright http://snomed.info/sct ID:59761008 Glutamate formiminotransferase deficiency (disorder) FIGLU LA12492-7
Glutaric acidemia type I Copyright http://snomed.info/sct ID:76175005 Glutaric aciduria, type 1 (disorder) GA-1 LA12493-5
Glutaric acidemia (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) GA-1 (mat) LA12494-3
Glutaric acidemia type II Copyright http://snomed.info/sct ID:22886006 Glutaric aciduria, type 2 (disorder) GA-2 LA12495-0
Homocystinuria Copyright http://snomed.info/sct ID:11282001 Homocystinuria (disorder) HCY LA12496-8
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Copyright http://snomed.info/sct ID:30287008 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder) HHH LA12497-6
Histidinemia Copyright http://snomed.info/sct ID:410058007 Histidinemia (disorder) HIS LA12498-4
3-Hydroxy-3-methylglutaric aciduria Copyright http://snomed.info/sct ID:410059004 Hydroxymethylglutaric aciduria (disorder) HMG LA12499-2
Hyperphenylalaninemia (variant, benign) Copyright http://snomed.info/sct ID:68528007 Hyperphenylalaninemia (disorder) H-PHE LA12500-7
Hyperlysinemia Copyright http://snomed.info/sct ID:58558003 Hyperlysinemia (disorder) Hyper LYS LA12501-5
Girate atrophy of the retina Copyright http://snomed.info/sct ID:314467007 Gyrate atrophy (disorder) Hyper ORN LA12502-3
Valinemia Copyright http://snomed.info/sct ID:47719001 Hypervalinemia (disorder) Hyper VAL LA12503-1
Isobutyrylglycinuria Copyright http://snomed.info/sct ID:445571008 Isobutyrylglycinuria (disorder) IBG LA12504-9
Isovaleric acidemia Copyright http://snomed.info/sct ID:87827003 Isovaleryl-coenzyme A dehydrogenase deficiency (disorder) IVA LA12505-6
Primary lactic acidemia Copyright http://snomed.info/sct ID:190882007 Lactic acidemia (disorder) LACTIC LA12506-4
Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:307127004 Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency (disorder) LCHAD LA12507-2
Malonic acidemia Copyright http://snomed.info/sct ID:124594007 Deficiency of malonyl-coenzyme A decarboxylase (disorder) MAL LA12508-0
Medium-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:128596003 Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder) MCAD LA12509-8
Holoocarboxylase synthase deficiency Copyright http://snomed.info/sct ID:360369003 Holocarboxylase synthase deficiency (disorder) MCD LA12510-6
Medium-chain ketoacyl-CoA thiolase deficiency Copyright http://snomed.info/sct ID:124265004 Deficiency of acetyl-coenzyme A acyltransferase (disorder) MCKAT LA12511-4
Hypermethioninemia Copyright http://snomed.info/sct ID:43123004 Hypermethioninemia (disorder) MET LA12512-2
Maple syrup urine disease Copyright http://snomed.info/sct ID:27718001 Maple syrup urine disease (disorder) MSUD LA21168-2
Methylene tetrahydrofolate reductase deficiency Copyright http://snomed.info/sct ID:41797007 5,10-Methylenetetrahydrofolate reductase deficiency (disorder) MTHFR LA12514-8
Methylmalonic acidemia Copyright http://snomed.info/sct ID:124680001 Deficiency of methylmalonyl-coenzyme A mutase (disorder) MUT LA12515-5
Nonketotic hyperglycinemia (glycine encephalopathy) Copyright http://snomed.info/sct ID:237939006 Non-ketotic hyperglycinemia (disorder) NKHG LA12516-3
Hydroxyprolinemia Copyright http://snomed.info/sct ID:25739007 Hyperhydroxyprolinemia (disorder) OH PRO LA12517-1
Ornithine transcarbamylase deficiency Copyright http://snomed.info/sct ID:80908008 Ornithine carbamoyltransferase deficiency (disorder) OTC LA12518-9
Pyruvate carboxylase deficiency Copyright http://snomed.info/sct ID:87694001 Pyruvate carboxylase deficiency (disorder) PC LA12519-7
Classic phenylketonuria Copyright http://snomed.info/sct ID:7573000 Classical phenylketonuria (disorder) PKU LA12520-5
Hyperprolinemia type I Copyright http://snomed.info/sct ID:61071003 Proline dehydrogenase deficiency (disorder) PRO I LA12521-3
Hyperprolinemia type II Copyright http://snomed.info/sct ID:717181004 Hyperprolinemia type 2 (disorder) PRO II LA12522-1
Propionic acidemia Copyright http://snomed.info/sct ID:69080001 Propionic acidemia (disorder) PROP LA12523-9
Short-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:124166007 Deficiency of butyryl-CoA dehydrogenase (disorder) SCAD LA12524-7
Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237998000 Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) SCHAD LA12525-4
Succinyl-CoA ligase deficiency Copyright http://snomed.info/sct ID:445275003 Deficiency of succinate-coenzyme A ligase (disorder) SUCLA2 LA12526-2
Trifunctional protein deficiency Copyright http://snomed.info/sct ID:237999008 Mitochondrial trifunctional protein deficiency (disorder) TFP LA12527-0
Tyrosinemia, type I Copyright http://snomed.info/sct ID:410056006 Tyrosinemia type I (disorder) TYR-I LA12528-8
Tyrosinemia, type II Copyright http://snomed.info/sct ID:4887000 Hypertyrosinemia, Richner-Hanhart type (disorder) TYR-II LA12529-6
Tyrosinemia, type III Copyright http://snomed.info/sct ID:415764005 Tyrosinemia type III (disorder) TYR-III LA12530-4
Very long-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237997005 Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder) VLCAD LA12531-2
Biotinidase deficiency Copyright http://snomed.info/sct ID:8808004 Biotinidase deficiency (disorder) BIO LA12532-0
Congenital adrenal hyperplasia Copyright http://snomed.info/sct ID:237751000 Congenital adrenal hyperplasia (disorder) CAH LA12533-8
Cystic fibrosis Copyright http://snomed.info/sct ID:190905008 Cystic fibrosis (disorder) CF LA22202-8
Primary congenital hypothyroidism Copyright http://snomed.info/sct ID:190268003 Congenital hypothyroidism (disorder) CH LA12538-7
Secondary congenital hypothyroidism Copyright http://snomed.info/sct ID:82598004 Secondary hypothyroidism (disorder) CH2 LA12539-5
Glucose-6-phosphate dehydrogenase deficiency Copyright http://snomed.info/sct ID:124134002 Deficiency of glucose-6-phosphate dehydrogenase (disorder) G6PD LA12540-3
Galactoepimerase deficiency Copyright http://snomed.info/sct ID:8849004 Uridine diphosphate glucose-4-epimerase deficiency (disorder) GALE LA12541-1
Galactokinase deficiency Copyright http://snomed.info/sct ID:124302001 Deficiency of galactokinase (disorder) GALT LA12542-9
Classical galactosemia LA21165-8
Hb C-carrier Copyright http://snomed.info/sct ID:76050008 Hemoglobin C trait (disorder) LA12602-1
Hb D-carrier Copyright http://snomed.info/sct ID:7391009 Hemoglobin D trait (disorder) LA12603-9
Hb E-carrier Copyright http://snomed.info/sct ID:46248003 Hemoglobin E trait (disorder) LA12604-7
Hb O-Arab carrier LA12605-4
Hb S (sickle)-carrier Copyright http://snomed.info/sct ID:16402000 Sickle cell trait (disorder) LA12606-2
Hb C-disease Copyright http://snomed.info/sct ID:51053007 Hemoglobin C disease (disorder) LA12607-0
Hb C beta-thalassemia Copyright http://snomed.info/sct ID:119691000119106 Hemoglobin C/beta thalassemia disease (disorder) LA12608-8
Hb D-disease LA12609-6
Hb D beta-thalassemia Copyright http://snomed.info/sct ID:119701000119106 Hemoglobin D/beta thalassemia disease (disorder) LA12610-4
Hb beta zero-thalassemia Copyright http://snomed.info/sct ID:86715000 Beta zero thalassemia (disorder) LA12611-2
Hb E-disease Copyright http://snomed.info/sct ID:25065001 Hemoglobin E disease (disorder) LA12612-0
Hb E beta-thalassemia Copyright http://snomed.info/sct ID:234392002 Hemoglobin E/beta thalassemia disease (disorder) LA12613-8
Hb SS-disease (sickle cell anemia) Copyright http://snomed.info/sct ID:127040003 Sickle cell-hemoglobin SS disease (disorder) LA12614-6
Hb S beta-thalassemia Copyright http://snomed.info/sct ID:127041004 Sickle cell-beta-thalassemia (disorder) LA12615-3
Hb SC-disease Copyright http://snomed.info/sct ID:35434009 Sickle cell-hemoglobin C disease (disorder) LA12616-1
Hb SD-disease Copyright http://snomed.info/sct ID:25472008 Sickle cell-hemoglobin D disease (disorder) LA12617-9
Hb SE-disease Copyright http://snomed.info/sct ID:47024008 Sickle cell-hemoglobin E disease (disorder) LA12618-7
Hb S O-Arab disease Copyright http://snomed.info/sct ID:127048005 Sickle cell-Hemoglobin O Arab disease (disorder) LA12619-5
Hb S plus Hb other than A,C,D,E,O-Arab disease Copyright http://snomed.info/sct ID:23269001 Double heterozygous sickling disorder (disorder) LA12620-3
Hb disease other than A, C, D, E, H,O-Arab, S Copyright http://snomed.info/sct ID:80141007 Hemoglobinopathy (disorder) LA12621-1
Hb carrier other than C, D, E, S ,O-Arab LA12622-9
Congenital HIV Copyright http://snomed.info/sct ID:52079000 Congenital human immunodeficiency virus infection (disorder) HIV LA12565-0
Severe combined immunodeficiency Copyright http://snomed.info/sct ID:31323000 Severe combined immunodeficiency disease (disorder) SCID LA12566-8
Thyroid-binding globulin deficiency Copyright http://snomed.info/sct ID:237544006 Thyroid-binding globulin deficiency (disorder) TBG LA12567-6
Congenital toxoplasmosis Copyright http://snomed.info/sct ID:73893000 Congenital toxoplasmosis (disorder) TOXO LA12568-4
CIT-I or CIT-II or ASA LA12569-2
HCY or MET or CBL C LA12570-0
PKU or BIPT-BS or BIOPT-REG or H-PHE LA12571-8
TYR-1 or TYR-II or TYR-III LA12572-6
CPT-II or CACT LA12573-4
LCHAD or TFP LA12574-2
MCAD or SCAD or GA-2(MADD) LA12575-9
SCAD or EMA or IBG or GA-2 (MADD) LA12576-7
2M3HBA or BKT-2 LA12577-5
IVA or 2MBG or GA-2 or EMA LA12578-3
PROP or CBL A or CBL B or MUT or CBL C or MCD LA12579-1
3-MCC or 3-MCC (mat) or 3MGA or BKT or HMG or MCD or BIO LA12915-7
CUD or CUD (mat) or CPT-Ia LA12916-5
GA-1 or GA-2 LA12917-3
Fabry disease Copyright http://snomed.info/sct ID:16652001 Fabry's disease (disorder) GLA LA14036-0
Pompe disease Copyright http://snomed.info/sct ID:274864009 Glycogen storage disease due to acid maltase deficiency (disorder) GAA LA14037-8
Krabbe disease Copyright http://snomed.info/sct ID:192782005 Galactosylceramide beta-galactosidase deficiency (disorder) GALC LA14038-6
Gaucher disease Copyright http://snomed.info/sct ID:190794006 Glucosylceramide beta-glucosidase deficiency (disorder) GBA LA14039-4
Niemann Pick disease A/B Copyright http://snomed.info/sct ID:58459009 Sphingomyelin/cholesterol lipidosis (disorder) ASM LA14040-2
Hb H-disease Copyright http://snomed.info/sct ID:48553001 Hemoglobin H disease (disorder) LA16007-9
Hemoglobinopathies Copyright http://snomed.info/sct ID:80141007 Hemoglobinopathy (disorder) LA16207-5
Critical congenital heart disease CCHD LA20349-9
X-linked adrenoleukodystrophy Copyright http://snomed.info/sct ID:65389002 Adrenoleukodystrophy (disorder) X-ALD LA25796-6
Mucopolysaccharidosis type I Copyright http://snomed.info/sct ID:75610003 Mucopolysaccharidosis type I (disorder) MPS-I LA25797-4
Guanidinoacetate N-methyltransferase deficiency Copyright http://snomed.info/sct ID:124239003 Deficiency of guanidinoacetate methyltransferase (disorder) GAMT LA30113-7
L-arginine:glycine amidinotransferase deficiency Copyright http://snomed.info/sct ID:702440000 Cerebral creatine deficiency syndrome 3 (disorder) AGAT LA30114-5
X-linked creatine transporter (CRTR) deficiency Copyright http://snomed.info/sct ID:698290008 X-linked creatine deficiency (disorder) CRTR LA30492-5
Spinal muscular atrophy Copyright http://snomed.info/sct ID:5262007 Spinal muscular atrophy (disorder) SMA LA22279-6
Deficiency of guanidinoacetate methyltransferase (disorder) LA34469-9
Mucopolysaccharidosis type II (disorder) LA34470-7

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)
57794-0 Newborn screening test results panel - DBS

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Estado del recién nacido con marcadores equívocos:Presencia o identidad:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MX Spanish (Mexico) Condiciones del recién nacido con marcadores equívocos:Presencia o identidad:Punto temporal:DBS:Nominal:
fr-FR French (France) Conditions néonatales avec marqueurs équivoques:Identification:Ponctuel:Sang buvard:Résultat nominal:
fr-BE French (Belgium) Conditions néonatales avec marqueurs équivoques:Présence ou identité:Temps ponctuel:Sang sur papier filtre:Nominal:
it-IT Italian (Italy) Neonato, condizioni con marcatori sospetti:Prid:Pt:Sangue.su carta da filtro:Nom:
Synonyms: Chimica Condizioni del neonato con marcatori sospetti Presenza o Identità Punto nel tempo (episodio) Sangue Spot sangue secco
pt-BR Portuguese (Brazil) Condições de recém-nascidos com marcadores equívocos:Ident:Pt:SgPapel:Nom:
Synonyms: ; NB conditions with equivocal markers; Identity or presence; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Nominal; New born; Chemistry
ru-RU Russian (Russian Federation) Новорождённый состояние с неопределённые маркеры:ПрИд:ТчкВрм:Кр.Сух.капл:Ном:
Synonyms: Кровь Кровь сухая капля Номинальный;Именной Присутствие или Идентификация Точка во времени;Момент
tr-TR Turkish (Turkey) Kuşkulu belirteçli yenidoğan şartları:MevcKimlik:Zmlı:Kan.nokta:Snf:
zh-CN Chinese (China) 带有模糊标志的新生儿健康状况: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 带有模糊（含糊、模棱两可、不明确、含糊其词、不明）标记新生儿健康状况（状况、情况、病情） 时刻;随机;随意;瞬间 血;血液

57724-7 Newborn screening short narrative summary

Observation Required in Panel

Optional

Fully-Specified Name

Component
Newborn screening short narrative summary
Property
Txt
Time
Pt
System
^Patient
Scale
Nar
Method

Additional Names

Panel Name
Short Name
NBS short summary
Display Name
NBS short narrative summary Nar
Consumer Name Alpha Get Info
NBS short narrative summary

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.29
Last Updated
Version 2.73
Order vs. Observation
Observation
Common Test Rank Get Info
17668

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)
57794-0 Newborn screening test results panel - DBS

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Resumen narrativo corto del cribado del recién nacido:Texto:Punto temporal:^paciente:Narrativo:
es-MX Spanish (Mexico) Breve resumen narrativo de la detección del recién nacido:Texto:Punto temporal:^ Paciente:Narrativo:
fr-FR French (France) Dépistage néonatal résumé compte rendu:Texte:Ponctuel:Patient:Résultat textuel:
fr-BE French (Belgium) Screening Nouveau-né. Résumé court:Texte:Temps ponctuel:^Patient:Narratif:
it-IT Italian (Italy) Screening neonatale, breve resoconto:Txt:Pt:^Paziente:Nar:
Synonyms: Breve resoconto di screening neonatale Chimica paziente Punto nel tempo (episodio) Testo
nl-NL Dutch (Netherlands) pasgeborene screening korte tekstuele samnvatting:tekst:moment:^patiënt:tekstueel:
pt-BR Portuguese (Brazil) Triagem neonatal pequeno sumário narrativo:#N/A:Pt:^Paciente:Nar:
Synonyms: ; NBSshort summary; Point in time; Random; Report; SCN; Asymptomatic; Asympt; New born; Chemistry
ru-RU Russian (Russian Federation) Новорождённый скрининг краткий описательный краткие сведения:Txt:ТчкВрм:^Пациент:Опис:
Synonyms: Описательный Текст Точка во времени;Момент
tr-TR Turkish (Turkey) Yenidoğan tarama kısa yazılı özet:Metin:Zmlı:^Hasta:Öykü:
zh-CN Chinese (China) 新生儿筛查简述摘要:文本型属性:时间点:^患者:叙述型:
Synonyms: Asympt SCN 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 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 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 文本;文本型;文本属性 新生儿（NB）筛查（筛选、过筛、筛检）简述摘要（小结、概要、总结、梗概、概括、总汇）;新生儿筛查简短叙述摘要 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 筛分 筛分试验 筛查（Screening，SCN） 筛查试验 筛选 筛选试验

57129-9 Full newborn screening summary report for display or printing

Term Description

This code indicates that the OBX-5 carries a summary new born screen report as formatted text. Use HL7 type FT or if you want to see as PDF use HL7 encoded data type (ED) and send as binary data in the OBX-5. It is an option entry that provides a convenient way for laboratories to send reports for display and/or printing to clinicians with whatever format they now deliver. If sent as a PDF it could include letter head, water marks etc.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Full newborn screening summary report for display or printing
Property
-
Time
Pt
System
^Patient
Scale
Doc
Method

Additional Names

Panel Name
Short Name
Full NBS summary for display/printing
Display Name
Full NBS summary report for display or printing Doc
Consumer Name Alpha Get Info
Full NBS Summary Report for Display Or Printing

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.29
Last Updated
Version 2.38
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)
57794-0 Newborn screening test results panel - DBS

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Informe de cribado total en el recién nacido para su visualización o impresión:Propiedades mixtas (sólo paneles):Punto temporal:^paciente:Doc:
es-MX Spanish (Mexico) Informe resumido completo de las pruebas de detección del recién nacido para su visualización o impresión:-:Punto temporal:^ Paciente:Documento:
it-IT Italian (Italy) Screening neonatale completo, referto generale per la visualizzazione o la stampa:-:Pt:^Paziente:Doc:
Synonyms: Chimica paziente Punto nel tempo (episodio) Referto Referto generale di screening neonatale completo p
nl-NL Dutch (Netherlands) volledig verslag screening nieuwgeborene voor weergave en afdrukken:-:moment:^patiënt:document:
Synonyms: volledige pasgeborene screening samenvattend rapport voor weergave of om te printen
pt-BR Portuguese (Brazil) Relatório completo de síntese de Triagem Neonatal para exibição ou impressão:#N/A:Pt:^Paciente:Doc:
Synonyms: ; Full NBS summary for display & print; Point in time; Random; SCN; Asymptomatic; Asympt; New born; Chemistry
ru-RU Russian (Russian Federation) Полный новорождённый скрининг краткие сведения отчёт для вывода на экран или печати:-:ТчкВрм:^Пациент:Док:
Synonyms: Документ Точка во времени;Момент
tr-TR Turkish (Turkey) Tam yenidoğan tarama özet raporu görüntü veya baskı için:-:Zmlı:^Hasta:Dokm:
zh-CN Chinese (China) 适用于显示或打印的全面新生儿筛查摘要报告:-:时间点:^患者:文档型:
Synonyms: Asympt SCN 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 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 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 报道;汇报;调查报告;报表;报导 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 筛分 筛分试验 筛查（Screening，SCN） 筛查试验 筛选 筛选试验 适于显示或打印的全面新生儿（NB）筛查（筛选、过筛、筛检）摘要报告;用于显示或打印的全面新生儿筛查摘要报告;适用于显示或打印的完整新生儿筛查摘要报告

57719-7 Conditions tested for in this newborn screening study [Identifier] in DBS

Observation Required in Panel

Required

Fully-Specified Name

Component
Conditions tested for in this newborn screening study
Property
ID
Time
Pt
System
Bld.dot
Scale
Nom
Method

Additional Names

Panel Name
Short Name
Conditions tested for in NBS study DBS
Display Name
Conditions tested for in this NBS study Nom (DBS) [ID]
Consumer Name Alpha Get Info
Conditions Tested for in This NBS Study, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.29
Last Updated
Version 2.73
Change Reason
Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation
Observation
Common Test Rank Get Info
673

Preferred Answer List LL841-8

Answer Code Score Answer ID
Hemoglobin C crystals LA11231-0
Hearing loss Copyright http://snomed.info/sct ID:15188001 Hearing loss (disorder) HEAR LA24366-9
2-Methyl-3-hydroxybutyric aciduria Copyright http://snomed.info/sct ID:791000124107 2-methyl-3-hydroxybutyric aciduria (disorder) 2M3HBA LA12464-6
2-Methylbutyrylglycinuria Copyright http://snomed.info/sct ID:445596006 2-methylbutyrylglycinuria (disorder) 2MBG LA12465-3
3-Methylcrotonyl-CoA carboxylase deficiency Copyright http://snomed.info/sct ID:13144005 Methylcrotonyl-coenzyme A carboxylase deficiency (disorder) 3-MCC LA12466-1
3-Methylcrotonyl-CoA carboxylase deficiency (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) 3-MCC (mat) LA12467-9
3-Methylglutaconic aciduria Copyright http://snomed.info/sct ID:237950009 3-Methylglutaconic aciduria (disorder) 3MGA LA12468-7
Pyroglutamic acidemia Copyright http://snomed.info/sct ID:39112005 Glutathione synthase deficiency with 5-oxoprolinuria (disorder) 5-OXO LA12469-5
Argininemia ARG LA21161-7
Argininosuccinic aciduria ASA LA21162-5
Biopterin defect in cofactor biosynthesis Copyright http://snomed.info/sct ID:237914002 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder) BIOPT-BS LA12472-9
Biopterin defect in cofactor regeneration Copyright http://snomed.info/sct ID:58256000 Dihydropteridine reductase deficiency (disorder) BIOPT-REG LA12473-7
Beta-ketothiolase deficiency Copyright http://snomed.info/sct ID:237953006 Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated (disorder) BKT LA12474-5
Carnitine acylcarnitine translocase deficiency Copyright http://snomed.info/sct ID:238003000 Carnitine acylcarnitine translocase deficiency (disorder) CACT LA12475-2
Cobalamin A disease Copyright http://snomed.info/sct ID:73843004 Cobalamin A disease (disorder) CBL A LA12476-0
Cobalamin B disease Copyright http://snomed.info/sct ID:82245003 Cobalamin B disease (disorder) CBL B LA12477-8
Cobalamin C disease Copyright http://snomed.info/sct ID:74653006 Cobalamin C disease (disorder) CBL C LA12478-6
Cobalamin D disease Copyright http://snomed.info/sct ID:31220004 Cobalamin D disease (disorder) CBL D LA12479-4
Cobalamin E disease Copyright http://snomed.info/sct ID:360373000 Homocystinuria vitamin B12-responsive type III (disorder) CBL E LA12480-2
CBL G type Methylcobalamin deficiency Copyright http://snomed.info/sct ID:721187005 Methylcobalamin deficiency type cbl G (disorder) CBL G LA12481-0
Citrullinemia, type I Copyright http://snomed.info/sct ID:398680004 Citrullinemia (disorder) CIT-I LA12482-8
Citrullinemia, type II Copyright http://snomed.info/sct ID:716863007 Citrullinemia type II (disorder) CIT-II LA12483-6
Carbamoyl-phosphate synthase deficiency Copyright http://snomed.info/sct ID:62522004 Congenital hyperammonemia, type I (disorder) CPS LA12484-4
Carnitine palmitoyltransferase type I deficiency Copyright http://snomed.info/sct ID:238001003 Carnitine palmitoyltransferase I deficiency (disorder) CPT-Ia LA12485-1
Carnitine palmitoyltransferase type II deficiency Copyright http://snomed.info/sct ID:238002005 Carnitine palmitoyltransferase II deficiency (disorder) CPT-II LA12486-9
Carnitine uptake deficiency/carnitine transport defect Copyright http://snomed.info/sct ID:21764004 Renal carnitine transport defect (disorder) CUD LA12487-7
Carnitine uptake deficiency/carnitine transport defect (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) CUD (mat) LA12488-5
2,4-Dienoyl-CoA reductase deficiency Copyright http://snomed.info/sct ID:444944006 Deficiency of 2,4-dienoyl-coenzyme A reductase (disorder) De-Red LA12489-3
Dihydrolipoamide dehydrogenase deficiency Copyright http://snomed.info/sct ID:29914000 Dihydrolipoamide dehydrogenase deficiency (disorder) E3 LA12490-1
Ethylmalonic encephalopathy Copyright http://snomed.info/sct ID:723307008 Ethylmalonic encephalopathy (disorder) EMA LA12491-9
Formiminoglutamic acidemia Copyright http://snomed.info/sct ID:59761008 Glutamate formiminotransferase deficiency (disorder) FIGLU LA12492-7
Glutaric acidemia type I Copyright http://snomed.info/sct ID:76175005 Glutaric aciduria, type 1 (disorder) GA-1 LA12493-5
Glutaric acidemia (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) GA-1 (mat) LA12494-3
Glutaric acidemia type II Copyright http://snomed.info/sct ID:22886006 Glutaric aciduria, type 2 (disorder) GA-2 LA12495-0
Homocystinuria Copyright http://snomed.info/sct ID:11282001 Homocystinuria (disorder) HCY LA12496-8
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Copyright http://snomed.info/sct ID:30287008 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder) HHH LA12497-6
Histidinemia Copyright http://snomed.info/sct ID:410058007 Histidinemia (disorder) HIS LA12498-4
3-Hydroxy-3-methylglutaric aciduria Copyright http://snomed.info/sct ID:410059004 Hydroxymethylglutaric aciduria (disorder) HMG LA12499-2
Hyperphenylalaninemia (variant, benign) Copyright http://snomed.info/sct ID:68528007 Hyperphenylalaninemia (disorder) H-PHE LA12500-7
Hyperlysinemia Copyright http://snomed.info/sct ID:58558003 Hyperlysinemia (disorder) Hyper LYS LA12501-5
Girate atrophy of the retina Copyright http://snomed.info/sct ID:314467007 Gyrate atrophy (disorder) Hyper ORN LA12502-3
Valinemia Copyright http://snomed.info/sct ID:47719001 Hypervalinemia (disorder) Hyper VAL LA12503-1
Isobutyrylglycinuria Copyright http://snomed.info/sct ID:445571008 Isobutyrylglycinuria (disorder) IBG LA12504-9
Isovaleric acidemia Copyright http://snomed.info/sct ID:87827003 Isovaleryl-coenzyme A dehydrogenase deficiency (disorder) IVA LA12505-6
Primary lactic acidemia Copyright http://snomed.info/sct ID:190882007 Lactic acidemia (disorder) LACTIC LA12506-4
Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:307127004 Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency (disorder) LCHAD LA12507-2
Malonic acidemia Copyright http://snomed.info/sct ID:124594007 Deficiency of malonyl-coenzyme A decarboxylase (disorder) MAL LA12508-0
Medium-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:128596003 Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder) MCAD LA12509-8
Holoocarboxylase synthase deficiency Copyright http://snomed.info/sct ID:360369003 Holocarboxylase synthase deficiency (disorder) MCD LA12510-6
Medium-chain ketoacyl-CoA thiolase deficiency Copyright http://snomed.info/sct ID:124265004 Deficiency of acetyl-coenzyme A acyltransferase (disorder) MCKAT LA12511-4
Hypermethioninemia Copyright http://snomed.info/sct ID:43123004 Hypermethioninemia (disorder) MET LA12512-2
Maple syrup urine disease Copyright http://snomed.info/sct ID:27718001 Maple syrup urine disease (disorder) MSUD LA21168-2
Methylene tetrahydrofolate reductase deficiency Copyright http://snomed.info/sct ID:41797007 5,10-Methylenetetrahydrofolate reductase deficiency (disorder) MTHFR LA12514-8
Methylmalonic acidemia Copyright http://snomed.info/sct ID:124680001 Deficiency of methylmalonyl-coenzyme A mutase (disorder) MUT LA12515-5
Nonketotic hyperglycinemia (glycine encephalopathy) Copyright http://snomed.info/sct ID:237939006 Non-ketotic hyperglycinemia (disorder) NKHG LA12516-3
Hydroxyprolinemia Copyright http://snomed.info/sct ID:25739007 Hyperhydroxyprolinemia (disorder) OH PRO LA12517-1
Ornithine transcarbamylase deficiency Copyright http://snomed.info/sct ID:80908008 Ornithine carbamoyltransferase deficiency (disorder) OTC LA12518-9
Pyruvate carboxylase deficiency Copyright http://snomed.info/sct ID:87694001 Pyruvate carboxylase deficiency (disorder) PC LA12519-7
Classic phenylketonuria Copyright http://snomed.info/sct ID:7573000 Classical phenylketonuria (disorder) PKU LA12520-5
Hyperprolinemia type I Copyright http://snomed.info/sct ID:61071003 Proline dehydrogenase deficiency (disorder) PRO I LA12521-3
Hyperprolinemia type II Copyright http://snomed.info/sct ID:717181004 Hyperprolinemia type 2 (disorder) PRO II LA12522-1
Propionic acidemia Copyright http://snomed.info/sct ID:69080001 Propionic acidemia (disorder) PROP LA12523-9
Short-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:124166007 Deficiency of butyryl-CoA dehydrogenase (disorder) SCAD LA12524-7
Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237998000 Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) SCHAD LA12525-4
Succinyl-CoA ligase deficiency Copyright http://snomed.info/sct ID:445275003 Deficiency of succinate-coenzyme A ligase (disorder) SUCLA2 LA12526-2
Trifunctional protein deficiency Copyright http://snomed.info/sct ID:237999008 Mitochondrial trifunctional protein deficiency (disorder) TFP LA12527-0
Tyrosinemia, type I Copyright http://snomed.info/sct ID:410056006 Tyrosinemia type I (disorder) TYR-I LA12528-8
Tyrosinemia, type II Copyright http://snomed.info/sct ID:4887000 Hypertyrosinemia, Richner-Hanhart type (disorder) TYR-II LA12529-6
Tyrosinemia, type III Copyright http://snomed.info/sct ID:415764005 Tyrosinemia type III (disorder) TYR-III LA12530-4
Very long-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237997005 Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder) VLCAD LA12531-2
Biotinidase deficiency Copyright http://snomed.info/sct ID:8808004 Biotinidase deficiency (disorder) BIO LA12532-0
Congenital adrenal hyperplasia Copyright http://snomed.info/sct ID:237751000 Congenital adrenal hyperplasia (disorder) CAH LA12533-8
Cystic fibrosis Copyright http://snomed.info/sct ID:190905008 Cystic fibrosis (disorder) CF LA22202-8
Primary congenital hypothyroidism Copyright http://snomed.info/sct ID:190268003 Congenital hypothyroidism (disorder) CH LA12538-7
Secondary congenital hypothyroidism Copyright http://snomed.info/sct ID:82598004 Secondary hypothyroidism (disorder) CH2 LA12539-5
Glucose-6-phosphate dehydrogenase deficiency Copyright http://snomed.info/sct ID:124134002 Deficiency of glucose-6-phosphate dehydrogenase (disorder) G6PD LA12540-3
Galactoepimerase deficiency Copyright http://snomed.info/sct ID:8849004 Uridine diphosphate glucose-4-epimerase deficiency (disorder) GALE LA12541-1
Galactokinase deficiency Copyright http://snomed.info/sct ID:124302001 Deficiency of galactokinase (disorder) GALT LA12542-9
Classical galactosemia GALT LA21165-8
Hb C-carrier Copyright http://snomed.info/sct ID:76050008 Hemoglobin C trait (disorder) LA12602-1
Hb D-carrier Copyright http://snomed.info/sct ID:7391009 Hemoglobin D trait (disorder) LA12603-9
Hb E-carrier Copyright http://snomed.info/sct ID:46248003 Hemoglobin E trait (disorder) LA12604-7
Hb O-Arab carrier LA12605-4
Hb S (sickle)-carrier Copyright http://snomed.info/sct ID:16402000 Sickle cell trait (disorder) LA12606-2
Hb C-disease Copyright http://snomed.info/sct ID:51053007 Hemoglobin C disease (disorder) LA12607-0
Hb C beta-thalassemia Copyright http://snomed.info/sct ID:119691000119106 Hemoglobin C/beta thalassemia disease (disorder) LA12608-8
Hb D-disease LA12609-6
Hb D beta-thalassemia Copyright http://snomed.info/sct ID:119701000119106 Hemoglobin D/beta thalassemia disease (disorder) LA12610-4
Hb beta zero-thalassemia Copyright http://snomed.info/sct ID:86715000 Beta zero thalassemia (disorder) LA12611-2
Hb E-disease Copyright http://snomed.info/sct ID:25065001 Hemoglobin E disease (disorder) LA12612-0
Hb E beta-thalassemia Copyright http://snomed.info/sct ID:234392002 Hemoglobin E/beta thalassemia disease (disorder) LA12613-8
Hb SS-disease (sickle cell anemia) Copyright http://snomed.info/sct ID:127040003 Sickle cell-hemoglobin SS disease (disorder) LA12614-6
Hb S beta-thalassemia Copyright http://snomed.info/sct ID:127041004 Sickle cell-beta-thalassemia (disorder) LA12615-3
Hb SC-disease Copyright http://snomed.info/sct ID:35434009 Sickle cell-hemoglobin C disease (disorder) LA12616-1
Hb SD-disease Copyright http://snomed.info/sct ID:25472008 Sickle cell-hemoglobin D disease (disorder) LA12617-9
Hb SE-disease Copyright http://snomed.info/sct ID:47024008 Sickle cell-hemoglobin E disease (disorder) LA12618-7
Hb S O-Arab disease Copyright http://snomed.info/sct ID:127048005 Sickle cell-Hemoglobin O Arab disease (disorder) LA12619-5
Hb S plus Hb other than A,C,D,E,O-Arab disease Copyright http://snomed.info/sct ID:23269001 Double heterozygous sickling disorder (disorder) LA12620-3
Hb disease other than A, C, D, E, H,O-Arab, S Copyright http://snomed.info/sct ID:80141007 Hemoglobinopathy (disorder) LA12621-1
Hb carrier other than C, D, E, S ,O-Arab LA12622-9
Congenital HIV Copyright http://snomed.info/sct ID:52079000 Congenital human immunodeficiency virus infection (disorder) HIV LA12565-0
Severe combined immunodeficiency Copyright http://snomed.info/sct ID:31323000 Severe combined immunodeficiency disease (disorder) SCID LA12566-8
Thyroid-binding globulin deficiency Copyright http://snomed.info/sct ID:237544006 Thyroid-binding globulin deficiency (disorder) TBG LA12567-6
Congenital toxoplasmosis Copyright http://snomed.info/sct ID:73893000 Congenital toxoplasmosis (disorder) TOXO LA12568-4
Fabry disease Copyright http://snomed.info/sct ID:16652001 Fabry's disease (disorder) GLA LA14036-0
Pompe disease Copyright http://snomed.info/sct ID:274864009 Glycogen storage disease due to acid maltase deficiency (disorder) GAA LA14037-8
Krabbe disease Copyright http://snomed.info/sct ID:192782005 Galactosylceramide beta-galactosidase deficiency (disorder) GALC LA14038-6
Gaucher disease Copyright http://snomed.info/sct ID:190794006 Glucosylceramide beta-glucosidase deficiency (disorder) GBA LA14039-4
Niemann Pick disease A/B Copyright http://snomed.info/sct ID:58459009 Sphingomyelin/cholesterol lipidosis (disorder) ASM LA14040-2
Hb H-disease Copyright http://snomed.info/sct ID:48553001 Hemoglobin H disease (disorder) LA16007-9
Hemoglobinopathies Copyright http://snomed.info/sct ID:80141007 Hemoglobinopathy (disorder) LA16207-5
Critical congenital heart disease CCHD LA20349-9
X-linked adrenoleukodystrophy Copyright http://snomed.info/sct ID:65389002 Adrenoleukodystrophy (disorder) X-ALD LA25796-6
Mucopolysaccharidosis type I Copyright http://snomed.info/sct ID:75610003 Mucopolysaccharidosis type I (disorder) MPS-I LA25797-4
Guanidinoacetate N-methyltransferase deficiency Copyright http://snomed.info/sct ID:124239003 Deficiency of guanidinoacetate methyltransferase (disorder) GAMT LA30113-7
L-arginine:glycine amidinotransferase deficiency Copyright http://snomed.info/sct ID:702440000 Cerebral creatine deficiency syndrome 3 (disorder) AGAT LA30114-5
X-linked creatine transporter (CRTR) deficiency Copyright http://snomed.info/sct ID:698290008 X-linked creatine deficiency (disorder) CRTR LA30492-5
Spinal muscular atrophy Copyright http://snomed.info/sct ID:5262007 Spinal muscular atrophy (disorder) SMA LA22279-6
Mucopolysaccharidosis type II (disorder) LA34470-7

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)
57794-0 Newborn screening test results panel - DBS

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Condiciones examinadas en este estudio de detección de recién nacidos:Identificador:Punto temporal:DBS:Nominal:
es-ES Spanish (Spain) Condiciones probadas en este estudio de cribado neonatal:Código identificador:Punto temporal:gota de sangre (papel de filtro):Nom:
fr-FR French (France) Conditions requises pour le dépistage néonatal:Identifiant:Ponctuel:Sang buvard:Résultat nominal:
it-IT Italian (Italy) Condizioni analizzate in questo studio di screening neonatale:ID:Pt:Sangue.su carta da filtro:Nom:
Synonyms: Chimica Identificatore Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) geteste aandoeningen in dit pasgeborene screeningsonderzoek:identificator:moment:gedroogde bloedspot:nominaal:
pt-BR Portuguese (Brazil) Condições testadas no presente estudo de triagem neonatal:#N/A:Pt:SgPapel:Nom:
Synonyms: ; Conditions tested for in this NBS study; Identifier; Ident; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Nominal; SCN; Asymptomatic; Asympt; New born; Chemistry
ru-RU Russian (Russian Federation) Состояния тестированные в данное новорождённый скрининг исследование:ID:ТчкВрм:Кр.Сух.капл:Ном:
Synonyms: Идентификатор Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TR Turkish (Turkey) Koşullar yenidoğan tarama çalışmasında test edilen:Tnmlyc:Zmlı:Kan.nokta:Snf:
zh-CN Chinese (China) 这项新生儿筛查检查当中的试验所针对的情况:标识符:时间点:全血.斑点:名义型:
Synonyms: Asympt SCN 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 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 标识;身份标识符;身份标识 检查分析 研究;检查项目;调查;考察;研究项目;学习 筛分 筛分试验 筛查（Screening，SCN） 筛查试验 筛选 筛选试验 考察 血;血液 调查 这项新生儿（NB）筛查（筛选、过筛、筛检）检查当中的试验所针对的健康状况;此项新生儿筛查检查当中的试验所针对的情况;此该新生儿筛查当中的试验所针对的情况

69969-4 Newborn screening report overall laboratory comment

Term Description

The use of ZNB or NTE segments for report boilerplate information, such as the list of conditions tested, is not recommended because receiving organizations may not know how to process the data. This LOINC code for Newborn Screening Report Overall Laboratory Comment enables sending this data in an OBX segment. If you send a list of conditions tested or another list, we suggest you use semicolons instead of commas to separate conditions in a list to avoid problems if the condition names contain commas.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Newborn screening report overall laboratory comment
Property
Txt
Time
Pt
System
^Patient
Scale
Nar
Method

Additional Names

Panel Name
Short Name
NBS report overall lab comment
Display Name
NBS report overall laboratory comment Nar
Consumer Name Alpha Get Info
NBS report overall laboratory comment

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.40
Last Updated
Version 2.73
Order vs. Observation
Observation
Common Test Rank Get Info
13235

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)
57794-0 Newborn screening test results panel - DBS

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Informe de evaluación del recién nacido comentario general laboratorio:Texto:Punto temporal:^paciente:Narrativo:
es-MX Spanish (Mexico) Informe de cribado neonatal comentario general de laboratorio:Texto:Punto temporal:^ Paciente:Narrativo:
fr-FR French (France) Compte rendu dépistage néonatal - Commentaire:Texte:Ponctuel:Patient:Résultat textuel:
it-IT Italian (Italy) Screening neonatale, referto di commento complessivo risultati di laboratorio:Txt:Pt:^Paziente:Nar:
Synonyms: Chimica Commento di laboratorio paziente Punto nel tempo (episodio) Referto Testo
nl-NL Dutch (Netherlands) pasgeborene screening rapport overall laboratoriumopmerkingen:tekst:moment:^patiënt:tekstueel:
ru-RU Russian (Russian Federation) Новорождённых скрининг отчёт полный лаборатории комментарий:Txt:ТчкВрм:^Пациент:Опис:
Synonyms: Описательный Текст Точка во времени;Момент
tr-TR Turkish (Turkey) Yenidoğan tarama raporu genel laboratuvar önerisi:Metin:Zmlı:^Hasta:Öykü:
zh-CN Chinese (China) 新生儿筛查报告总体实验室注释:文本型属性:时间点:^患者:叙述型:
Synonyms: Asympt SCN 全面;整体;总体情况 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 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 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 实验室（检验科、检验室、化验室）注释（备注、注解、评论、说明、意见） 意见 报道;汇报;调查报告;报表;报导 文本;文本型;文本属性 新生儿（NB）筛查（筛选、过筛、筛检）报告总体实验室注释（备注、注解、评论说明、意见）;新生儿筛查报告总体实验室备注;新生儿筛查报告总体实验室评论 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 检验科;化验室;化验科 注解 短评 筛分 筛分试验 筛查（Screening，SCN） 筛查试验 筛选 筛选试验 解说 解释 评定 评注 评论 评语 说明