54079-9
Galactosemia newborn screening panel
Active
46737-3 Galactosemias newborn screen interpretation
Observation Required in Panel
Required
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Galactosemias
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- Galactosemias DBS-Imp
- Display Name
- Galactosemias (DBS) [Interp]
- Consumer Name Alpha Get Info
- Galactosemias, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.19
- 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
- 1405
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 |
|---|---|
| 54079-9 | Galactosemia newborn screening panel |
| 54080-7 | Galactosemia newborn screening panel (SI units) |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Galactosemias: |
| es-MX | Spanish (Mexico) | Galactosemias: |
| fr-BE | French (Belgium) | Galactosémies: |
| fr-FR | French (France) | Galactosémie: |
| fr-CA | French (Canada) | Galactosémies: |
| it-IT | Italian (Italy) | Galattosemie: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| ko-KR | Korean (Korea, Republic Of) | 갈락토스혈증: |
| nl-NL | Dutch (Netherlands) | galactosemieën: |
| pt-BR | Portuguese (Brazil) | Galactosemia: Synonyms: Interpretation; |
| ru-RU | Russian (Russian Federation) | Галактоземии: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Galaktozemiler: |
| zh-CN | Chinese (China) | 半乳糖血症: Synonyms: 全血斑点(滤纸); |
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.
57704-9 Galactosemias newborn screening comment-discussion
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Galactosemias newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- Galactosemias NBS comment
- Display Name
- Galactosemias newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Galactosemias newborn screening comment-discussion, Dried blood spot
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
- 17841
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54079-9 | Galactosemia newborn screening panel |
| 54080-7 | Galactosemia newborn screening panel (SI units) |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Comentario-discusión sobre la detección de galactosemias en recién nacidos: |
| es-ES | Spanish (Spain) | Galactosemias screnning de recién nacidos comentario-discusión: |
| fr-FR | French (France) | Galactosémie dépistage néonatal (commentaire-discussion): |
| fr-BE | French (Belgium) | Galactosémies Commentaires.screening néonatal.discussion: |
| it-IT | Italian (Italy) | Galattosemie, screening neonatale, commenti-discussione: Synonyms: Chimica Commento/discussione di screening neonatale per galattosemie Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | galactosemieën screening van pasgeborene commentaar-discussie: |
| pt-BR | Portuguese (Brazil) | Galactosemias na triagem neonatal comentários-discussão: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Галактоземии новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Galaktozemiler yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 半乳糖血症 新生儿筛查注释-讨论: Synonyms: Asympt SCN 全血斑点(滤纸); |
54084-9 Galactose [Mass/volume] in DBS
Part Descriptions
LP15263-4 Galactose
Galactose (Gal) (also called brain sugar) is a type of sugar found in dairy products, in sugar beets and other gums and mucilages. It is also synthesized by the body, where it forms part of glycolipids and glycoproteins in several tissues. It is considered a nutritive sweetener because it has food energy. Galactose is less sweet than glucose and not very water-soluble. Galactan is a polymer of the sugar galactose. It is found in hemicellulose and can be converted to galactose by hydrolysis. Galactose is a monosaccharide constituent, together with glucose, of the disaccharide lactose. The hydrolysis of lactose to glucose and galactose is catalyzed by the enzyme beta-galactosidase, a lactase. In the human body, glucose is changed into galactose in order to enable the mammary glands to secrete lactose.
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, Galactose (Wikipedia)
LP15263-4 Galactose
An aldohexose that occurs naturally in the D-form in lactose, cerebrosides, gangliosides, and mucoproteins. Deficiency of galactosyl-1-phosphate uridyltransferase (GALACTOSE-1-PHOSPHATE URIDYL-TRANSFERASE DEFICIENCY DISEASE) causes an error in galactose metabolism called GALACTOSEMIA, resulting in elevations of galactose in the blood.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Galactose
- Property
- MCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Galactose DBS-mCnc
- Display Name
- Galactose (DBS) [Mass/Vol]
- Consumer Name Alpha Get Info
- Galactose, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 14170
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54079-9 | Galactosemia newborn screening panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG46708-0 | Galactose| |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Galactosa: |
| es-ES | Spanish (Spain) | Galactosa: Synonyms: Cuantitativo |
| et-EE | Estonian (Estonia) | Galaktoos: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-FR | French (France) | Galactose: |
| fr-BE | French (Belgium) | Galactose: |
| fr-CA | French (Canada) | Galactose: |
| it-IT | Italian (Italy) | Galattosio: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | galactose: |
| pt-BR | Portuguese (Brazil) | Galactose: Synonyms: Cerebrose; |
| ru-RU | Russian (Russian Federation) | Галактоза: Synonyms: Количественный Кровь Кровь сухая капля Массовая концентрация Точка во времени; |
| tr-TR | Turkish (Turkey) | Galaktoz: |
| zh-CN | Chinese (China) | 半乳糖: Synonyms: 乳单糖; |
Example Units
| Unit | Source |
|---|---|
| mg/dL | Example UCUM Units |
33288-2 Galactose 1 phosphate uridyl transferase [Presence] in DBS
Part Descriptions
LP14026-6 Galactose 1 phosphate uridyl transferase
Galactose-1-phosphate uridylyltransferase (or GALT) is an enzyme (EC 2.7.7.12) responsible for converting ingested galactose to glucose. GALT catalyzes the second step of the Leloir pathway of galactose metabolism. The expression of GALT is controlled by the actions of the FOXO3 gene. Deficiency of GALT causes classic galactosemia and can be fatal in the newborn period if lactose is not removed from the diet. Symptoms include ovarian failure, cataracts, and neurologic deficits.
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, Galactose-1-phosphate uridylyltransferase
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Galactose 1 phosphate uridyl transferase
- Property
- PrThr
- Time
- Pt
- System
- Bld.dot
- Scale
- Ord
- Method
Additional Names
- Short Name
- Gal1PUT DBS Ql
- Display Name
- Galactose 1 phosphate uridyl transferase Ql (DBS)
- Consumer Name Alpha Get Info
- Galactose 1 phosphate uridyl transferase, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.09
- Last Updated
- Version 2.73
- Change Reason
- The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 1408
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54079-9 | Galactosemia newborn screening panel |
| 54080-7 | Galactosemia newborn screening panel (SI units) |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency 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: Galactose-1-Phosphat-Uridyl-Transferase ql. /BT |
| es-ES | Spanish (Spain) | Galactosa 1 fosfato uridil transferasa: |
| es-MX | Spanish (Mexico) | Galactosa 1 fosfato uridil transferasa: |
| es-AR | Spanish (Argentina) | galactosa 1 fosfato uridiltransferasa: |
| et-EE | Estonian (Estonia) | Galaktoos-1-fosfaaturidüüli transferaas: Synonyms: Järgarvuline Juhuslik Veri |
| fr-BE | French (Belgium) | Galactose 1-phosphate uridyl transférase: |
| fr-FR | French (France) | Galactose-1-phosphate uridyl transférase: |
| fr-CA | French (Canada) | Galactose 1-phosphate uridyl transférase: |
| it-IT | Italian (Italy) | Galattosio 1 fosfato uridil transferasi: Synonyms: Chimica Presenza o Soglia Punto nel tempo (episodio) Sangue Spot sangue secco |
| ko-KR | Korean (Korea, Republic Of) | 갈락토스 1 인산염 우리딜 전이효소: |
| nl-NL | Dutch (Netherlands) | galactose-1-fosfaaturidyltransferase: |
| pt-BR | Portuguese (Brazil) | Galactose 1 Fosfato uridil transferase: Synonyms: Hexose-1-phosphate uridyltransferase; |
| ru-RU | Russian (Russian Federation) | Галактозо 1 фосфат уридил трансфераза: Synonyms: Галактозо-1-фосфат Кровь Кровь сухая капля Порядковый Точка во времени; |
| tr-TR | Turkish (Turkey) | Galaktoz 1 fosfat üridil transferaz: Synonyms: Mevcut |
| zh-CN | Chinese (China) | 半乳糖-1-磷酸尿苷酰转移酶: Synonyms: Ⅰ GAL-1-P; |
42906-8 Galactose 1 phosphate uridyl transferase [Enzymatic activity/volume] in DBS
Part Descriptions
LP14026-6 Galactose 1 phosphate uridyl transferase
Galactose-1-phosphate uridylyltransferase (or GALT) is an enzyme (EC 2.7.7.12) responsible for converting ingested galactose to glucose. GALT catalyzes the second step of the Leloir pathway of galactose metabolism. The expression of GALT is controlled by the actions of the FOXO3 gene. Deficiency of GALT causes classic galactosemia and can be fatal in the newborn period if lactose is not removed from the diet. Symptoms include ovarian failure, cataracts, and neurologic deficits.
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, Galactose-1-phosphate uridylyltransferase
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Galactose 1 phosphate uridyl transferase
- Property
- CCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Gal1PUT DBS-cCnc
- Display Name
- Galactose 1 phosphate uridyl transferase (DBS) [Catalytic activity/Vol]
- Consumer Name Alpha Get Info
- Galactose 1 phosphate uridyl transferase, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.16
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19799
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54079-9 | Galactosemia newborn screening panel |
| 54080-7 | Galactosemia newborn screening panel (SI units) |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Galactosa 1 fosfato uridil transferasa: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Galactosa 1 fosfato uridil transferasa: |
| et-EE | Estonian (Estonia) | Galaktoos-1-fosfaaturidüüli transferaas: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-FR | French (France) | Galactose-1-phosphate uridyl transférase: |
| fr-BE | French (Belgium) | Galactose 1-phosphate uridyl transférase: |
| fr-CA | French (Canada) | Galactose 1-phosphate uridyl transférase: |
| it-IT | Italian (Italy) | Galattosio 1 fosfato uridil transferasi: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco |
| ko-KR | Korean (Korea, Republic Of) | 갈락토스 1 인산염 우리딜 전이효소: |
| nl-NL | Dutch (Netherlands) | galactose-1-fosfaaturidyltransferase: |
| pt-BR | Portuguese (Brazil) | Galactose 1 Fosfato uridil transferase: Synonyms: Hexose-1-phosphate uridyltransferase; |
| ru-RU | Russian (Russian Federation) | Галактозо 1 фосфат уридил трансфераза: Synonyms: Галактозо-1-фосфат Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени; |
| tr-TR | Turkish (Turkey) | Galaktoz 1 fosfat üridil transferaz: |
| zh-CN | Chinese (China) | 半乳糖-1-磷酸尿苷酰转移酶: Synonyms: Ⅰ GAL-1-P; |
Example Units
| Unit | Source |
|---|---|
| nmol/h/mL | Example UCUM Units |
40842-7 Galactose 1 phosphate [Mass/volume] in DBS
Part Descriptions
LP15586-8 Galactose 1 phosphate
Galactose-1-phosphate uridylyltransferase (or GALT) is an enzyme (EC 2.7.7.12) responsible for converting ingested galactose to glucose. Deficiency of GALT causes galactosemia. The GALT gene is located on the ninth chromosome (9p13).
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, Galactose 1 phosphate (Wikipedia)
LP15586-8 Galactose 1 phosphate
Measures galactose-1-phosphate concentrations when galactosemia patients are challenged with galactose load.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Galactose 1 phosphate
- Property
- MCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Gal1PO4 DBS-mCnc
- Display Name
- Galactose 1 phosphate (DBS) [Mass/Vol]
- Consumer Name Alpha Get Info
- Galactose 1 phosphate, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.15
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54079-9 | Galactosemia newborn screening panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Galaktose-1-Phosphat: |
| es-ES | Spanish (Spain) | Galactosa 1 fosfato: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Fosfato de galactosa 1: |
| et-EE | Estonian (Estonia) | Galaktoos-1-fosfaat: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-FR | French (France) | Galactose-1-phosphate: |
| fr-BE | French (Belgium) | Galactose-1-phosphate: |
| fr-CA | French (Canada) | Galactose-1-phosphate: |
| it-IT | Italian (Italy) | Galattosio 1 fosfato: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco |
| ko-KR | Korean (Korea, Republic Of) | 갈락토스 1 인산염: |
| nl-NL | Dutch (Netherlands) | galactose-1-fosfaat: |
| pt-BR | Portuguese (Brazil) | Galactose 1 Fosfato: Synonyms: Phos; |
| ru-RU | Russian (Russian Federation) | Галактоза 1 фосфат: Synonyms: Галактозо-1-фосфат Количественный Кровь Кровь сухая капля Массовая концентрация Точка во времени; |
| tr-TR | Turkish (Turkey) | Galaktoz 1 fosfat: |
| zh-CN | Chinese (China) | 半乳糖-1-磷酸: Synonyms: Ⅰ GAL-1-P; |
Example Units
| Unit | Source |
|---|---|
| mg/dL | Example UCUM Units |