85267-3

X-linked adrenoleukodystrophy (X-ALD) newborn screening panel

Active

85269-9 X-linked adrenoleukodystrophy newborn screen interpretation

Observation Required in Panel

Conditional

Fully-Specified Name

Component: X-linked adrenoleukodystrophy
Property: Imp
Time: Pt
System: Bld.dot
Scale: Nom
Method

Additional Names

Short Name: X-ALD DBS-Imp
Display Name: X-linked adrenoleukodystrophy (DBS) [Interp]
Consumer Name Alpha Get Info: X-linked adrenoleukodystrophy, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.58
Last Updated: Version 2.58
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
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Adrenoleucodistrofia ligada al cromosoma X:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
es-ES	Spanish (Spain)	Adrenoleucodistrofia ligada al crosoma X:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
fr-FR	French (France)	Adrénoleucodystrophie liée à l'X:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
it-IT	Italian (Italy)	Adrenoleucodistrofia legata all'X:Imp:Pt:Sangue.su carta da filtro:Nom: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco
zh-CN	Chinese (China)	X连锁肾上腺脑白质营养不良:印象:时间点:全血.斑点:名义型: Synonyms: X染色体连锁肾上腺脑白质营养不良;X-连锁肾上腺脑白质营养不良;X-ALD;ALD 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;瞬间血;血液

Third Party Copyright

This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.

This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.

Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.

85268-1 X-linked adrenoleukodystrophy newborn screening comment-discussion

Observation Required in Panel

Conditional

Fully-Specified Name

Component: X-linked adrenoleukodystrophy newborn screening comment-discussion
Property: Txt
Time: Pt
System: Bld.dot
Scale: Nar
Method

Additional Names

Short Name: X-ALD NBS comment
Display Name: X-linked adrenoleukodystrophy newborn screening comment-discussion Nar (DBS)
Consumer Name Alpha Get Info: X-linked adrenoleukodystrophy newborn screening comment-discussion, Dried blood spot

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.58
Last Updated: Version 2.58
Order vs. Observation: Observation

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Adrenoleucodistrofia ligada al crosoma X screnning de recién nacidos comentario-discusión:Texto:Punto temporal:gota de sangre (papel de filtro):Narrativo:
es-MX	Spanish (Mexico)	Adrenoleucodistrofia ligada al cromosoma X examen de detección de recién nacidos comentario-discusión:Texto:Punto temporal:DBS:Narrativo:
fr-FR	French (France)	Adrénoleucodystrophie liée à l'X dépistage néonatal (commentaire-discusssion):Texte:Ponctuel:Sang buvard:Résultat textuel:
it-IT	Italian (Italy)	Adrenoleucodistrofia legata all'X , screening neonatale, commenti-discussione:Txt:Pt:Sangue.su carta da filtro:Nar: Synonyms: Chimica Punto nel tempo (episodio) Sangue Spot sangue secco Testo
zh-CN	Chinese (China)	X连锁肾上腺脑白质营养不良新生儿筛查注释-讨论:文本型属性:时间点:全血.斑点:叙述型: Synonyms: Asympt SCN X染色体连锁肾上腺脑白质营养不良;X-连锁肾上腺脑白质营养不良;X-ALD;ALD 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型备注备注;评论;注解;说明;评语意见文本;文本型;文本属性新生儿（NB）筛查（筛选、过筛、筛检）注释（备注、评论）-讨论无症状无症状（Asymptomatic，Asympt）无症状的无症状筛查时刻;随机;随意;瞬间普查普查试验注解短评筛分筛分试验筛查（Screening，SCN）筛查试验筛选筛选试验血;血液解说解释评定评注评论评语说明

79321-6 Lysophosphatidylcholine(26:0) [Moles/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

Observation Required in Panel

Optional

Fully-Specified Name

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

Additional Names

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

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.54
Last Updated: Version 2.67
Order vs. Observation: Both

Member of these Panels

LOINC	Long Common Name
104191-2	Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8	Mucopolysaccharidosis type II newborn screening panel
54089-8	Newborn screening panel American Health Information Community (AHIC)

Member of these Groups Get Info

LOINC Group	Group Name
LG50129-2	Lysophosphatidylcholine(26:0)\|Pt\|Bld.dot\|635.908 g/mole
LG30563-7	Lysophosphatidylcholine(26:0)\|SCnc\|Pt\|Bld.dot

Language Variants Get Info

Tag	Language	Translation
es-MX	Spanish (Mexico)	Lisofosfatidilcolina (26:0):Concentración de sustancias:Punto temporal:DBS:Cuantitativo
es-ES	Spanish (Spain)	Lisofosfatidilcolina (26:0):Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
fr-FR	French (France)	Lysophosphatidylcholine(26:0):Moles/Volume:Ponctuel:Sang buvard:Numérique:
it-IT	Italian (Italy)	Lisofosfatidilcolina(26:0):SCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	lysofosfatidylcholine(26:0):mol/volume:moment:gedroogde bloedspot:kwantitatief:
tr-TR	Turkish (Turkey)	Lizofosfatidilkolin(26:0):SubKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	溶血磷脂酰胆碱(26:0):物质的量浓度:时间点:全血.斑点:定量型: Synonyms: 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 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
umol/L	Example UCUM Units

85267-3

X-linked adrenoleukodystrophy (X-ALD) newborn screening panel

Active

85269-9 X-linked adrenoleukodystrophy newborn screen interpretation

Observation Required in Panel

Fully-Specified Name

Additional Names

Basic Attributes

Preferred Answer List LL840-0

Member of these Panels

Language Variants Get Info

Related Names

Third Party Copyright

85268-1 X-linked adrenoleukodystrophy newborn screening comment-discussion

Observation Required in Panel

Fully-Specified Name

Additional Names

Basic Attributes

Member of these Panels

Language Variants Get Info

Related Names

79321-6 Lysophosphatidylcholine(26:0) [Moles/volume] in DBS

Part Descriptions

Observation Required in Panel

Fully-Specified Name

Additional Names

Basic Attributes

Member of these Panels

Member of these Groups Get Info

Language Variants Get Info

Related Names

Example Units