62333-0
Severe combined immunodeficiency (SCID) newborn screening panel
Active
62321-5 Severe combined immunodeficiency newborn screen interpretation
Part Descriptions
LP111254-1 Severe combined immunodeficiency
Severe combined immunodeficiency (SCID), or Bubble Boy Syndrome, (also known as "Alymphocytosis," "Glanzmann-Riniker syndrome," "Severe mixed immunodeficiency syndrome," and "Thymic alymphoplasia" is a genetic disorder in which both "arms" (B cells and T cells) of the adaptive immune system are crippled, due to a defect in one of several possible genes. SCID is a severe form of heritable immunodeficiency. It is also known as the "bubble boy" disease because its victims are extremely vulnerable to infectious diseases and some of them, such as David Vetter, become famous for living in a sterile environment. SCID is the effect of a highly compromised, so much it is almost considered absent, immune system. The gene mutations that cause SCID are not just for the disorder. The buildup of dATP, which induces the cell to make cytochrome c, destroys and signals for apoptosis in all rapidly proliferating cells. This includes cells in the GI tract, immune system lymphocytes, and sperm cells.
Chronic diarrhoea, ear infections, recurrent Pneumocystis jirovecii pneumonia, and profuse oral candidiasis commonly occur. These babies, if untreated, usually die within 1 year due to severe, recurrent infections unless they have undergone successful Hematopoietic stem cell transplantation.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Wikipedia
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Severe combined immunodeficiency
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- SCID DBS-Imp
- Display Name
- Severe combined immunodeficiency (DBS) [Interp]
- Consumer Name Alpha Get Info
- Severe combined immunodeficiency, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- 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
- 14230
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 |
54089-8 | Newborn screening panel American Health Information Community (AHIC) |
62333-0 | Severe combined immunodeficiency (SCID) newborn screening panel |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-MX | Spanish (Mexico) | Inmunodeficiencia combinada grave: |
es-ES | Spanish (Spain) | Inmunodeficiencia combinada severa: |
fr-FR | French (France) | Immunodéficience sévère associée: |
fr-BE | French (Belgium) | Immunodéficience combinée sévère: |
it-IT | Italian (Italy) | Immunodeficienza combinata grave: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
nl-NL | Dutch (Netherlands) | ernstige gecombineerde immunodeficiëntie: Synonyms: ernstige gecombineerde immunodeficientie |
ru-RU | Russian (Russian Federation) | Тяжелый комбинированный иммунодефицит: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный; |
tr-TR | Turkish (Turkey) | Ciddi kombine immun bozukluk: |
zh-CN | Chinese (China) | 严重联合免疫缺陷: Synonyms: 严重联合免疫缺陷病; |
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.
62322-3 Severe combined immunodeficiency newborn screening comment-discussion
Part Descriptions
LP111254-1 Severe combined immunodeficiency
Severe combined immunodeficiency (SCID), or Bubble Boy Syndrome, (also known as "Alymphocytosis," "Glanzmann-Riniker syndrome," "Severe mixed immunodeficiency syndrome," and "Thymic alymphoplasia" is a genetic disorder in which both "arms" (B cells and T cells) of the adaptive immune system are crippled, due to a defect in one of several possible genes. SCID is a severe form of heritable immunodeficiency. It is also known as the "bubble boy" disease because its victims are extremely vulnerable to infectious diseases and some of them, such as David Vetter, become famous for living in a sterile environment. SCID is the effect of a highly compromised, so much it is almost considered absent, immune system. The gene mutations that cause SCID are not just for the disorder. The buildup of dATP, which induces the cell to make cytochrome c, destroys and signals for apoptosis in all rapidly proliferating cells. This includes cells in the GI tract, immune system lymphocytes, and sperm cells.
Chronic diarrhoea, ear infections, recurrent Pneumocystis jirovecii pneumonia, and profuse oral candidiasis commonly occur. These babies, if untreated, usually die within 1 year due to severe, recurrent infections unless they have undergone successful Hematopoietic stem cell transplantation.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Wikipedia
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Severe combined immunodeficiency newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- SCID NBS comment
- Display Name
- Severe combined immunodeficiency newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Severe combined immunodeficiency newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 18235
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) |
62333-0 | Severe combined immunodeficiency (SCID) newborn screening panel |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-MX | Spanish (Mexico) | Comentario-discusión de cribado neonatal de inmunodeficiencia combinada grave: |
es-ES | Spanish (Spain) | Inmunodeficiencia combinada severa screnning de recién nacidos comentario-discusión: |
fr-BE | French (Belgium) | Immunodéficience combinée sévère Commentaires.screening néonatal.discussion: |
fr-FR | French (France) | Immunodéficience sévère associée dépistage néonatal (commentaire-discusssion): |
it-IT | Italian (Italy) | Immunodeficienza combinata grave, screening neonatale, commenti-discussione: Synonyms: Chimica Commento-discussione di screening neonatale per immunodeficienza combinata grave Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
nl-NL | Dutch (Netherlands) | ernstige gecombineerde immunodeficiëntie screening van pasgeborene commentaar-discussie: Synonyms: ernstige gecombineerde immunodeficientie |
ru-RU | Russian (Russian Federation) | Тяжелый комбинированный иммунодефицит новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
tr-TR | Turkish (Turkey) | Ciddi kombine immun bozukluk yenidoğan tarama öneri-tartışma: |
zh-CN | Chinese (China) | 严重联合免疫缺陷 新生儿筛查注释-讨论: Synonyms: Asympt SCN 严重联合免疫缺陷新生儿筛查注释/讨论 严重联合免疫缺陷病; |
62320-7 T-cell receptor excision circle [#/volume] in DBS by NAA with probe detection
Term Description
In newborn screening laboratories where dried blood spots (DBS) are the only available specimens, the test for T cell receptor excision circles (TREC) has been established as a reliable method in population-based pilot studies. TRECs are circular episomal DNA generated at the rearrangement of T cell antigen-receptor gene segments during maturation of T lymphocytes in the thymus. They are non-replicating byproducts that stay in the recent thymic emigrants in the peripheral blood. As such, they can serve as sensitive markers of T cell production in the newborn infant.
Source: Regenstrief LOINC
Part Descriptions
LP111251-7 T-cell receptor excision circle
T cell receptor excision circles (TRECs) are formed as a byproduct of T cell receptor (TCR) generation in the thymus. Every T cell has a unique TCR, and formation of TCRs involves DNA rearrangement into different combinations of variable, diversity, and joining sequences. As these combinations are created, the remaining fragments of excised DNA form circular structures, or TRECs. The number of TRECs is proportional to T cell production, with low TREC numbers being an indicator of inadequate T cell production. In newborns, dried blood spot TREC analysis is used to screen for severe combined immunodeficiency as well as other disorders associated with low T cell counts, such as DiGeorge syndrome, trisomy 21, CHARGE syndrome, and congenital leukemia. PMID: 25937517
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- T-cell receptor excision circle
- Property
- NCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
- Probe.amp.tar
Additional Names
- Short Name
- TREC # DBS NAA+probe
- Display Name
- T-cell receptor excision circle NAA+probe (DBS) [#/Vol]
- Consumer Name Alpha Get Info
- T-cell receptor excision circle, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 11973
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) |
62333-0 | Severe combined immunodeficiency (SCID) newborn screening panel |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Círculos de escisión del receptor de células T: Synonyms: Cuantitativo |
es-MX | Spanish (Mexico) | Círculo de escisión del receptor de células T: |
fr-FR | French (France) | Récepteur cellules T cercle d'excision: |
it-IT | Italian (Italy) | Linfocita T, circolo di escissione recettore: Synonyms: Chimica Circolo di escissione di recettore di linfocita T Concentrazione Numerica Linfocita T Punto nel tempo (episodio) Sangue Sonda con amplificazione Sonda con amplificazione del target Sonda di DNA Spot sangue secco |
nl-NL | Dutch (Netherlands) | T-celreceptor excisiecirkel: Synonyms: probe.amp.tar |
ru-RU | Russian (Russian Federation) | T-клеточного рецептора исключения круг: Synonyms: ДНК проба; |
tr-TR | Turkish (Turkey) | T-hücresi reseptörü excision circle: |
zh-CN | Chinese (China) | T-细胞受体重排删除环: Synonyms: T 细胞; |
Example Units
Unit | Source |
---|---|
{copies} | Example UCUM Units |
92006-6 T-cell receptor excision circle [Cycle Threshold #] in DBS
Part Descriptions
LP111251-7 T-cell receptor excision circle
T cell receptor excision circles (TRECs) are formed as a byproduct of T cell receptor (TCR) generation in the thymus. Every T cell has a unique TCR, and formation of TCRs involves DNA rearrangement into different combinations of variable, diversity, and joining sequences. As these combinations are created, the remaining fragments of excised DNA form circular structures, or TRECs. The number of TRECs is proportional to T cell production, with low TREC numbers being an indicator of inadequate T cell production. In newborns, dried blood spot TREC analysis is used to screen for severe combined immunodeficiency as well as other disorders associated with low T cell counts, such as DiGeorge syndrome, trisomy 21, CHARGE syndrome, and congenital leukemia. PMID: 25937517
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- T-cell receptor excision circle
- Property
- ThreshNum
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- TREC ThreshNum DBS Qn
- Display Name
- T-cell receptor excision circle (DBS) [ThreshNum]
- Consumer Name Alpha Get Info
- T-cell receptor excision circle, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.66
- Last Updated
- Version 2.66
- 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) |
62333-0 | Severe combined immunodeficiency (SCID) newborn screening panel |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-MX | Spanish (Mexico) | Círculo de escisión del receptor de células T: |
es-ES | Spanish (Spain) | Círculos de escisión del receptor de células T: Synonyms: Cuantitativo |
fr-FR | French (France) | Récepteur cellules T cercle d'excision: |
it-IT | Italian (Italy) | Linfocita T, circolo di escissione recettore: Synonyms: Chimica Circolo di escissione di recettore di linfocita T Limite di soglia Linfocita T Punto nel tempo (episodio) Sangue Spot sangue secco |
nl-NL | Dutch (Netherlands) | T-celreceptor excisiecirkel: |
tr-TR | Turkish (Turkey) | T-hücresi reseptörü excision circle: Synonyms: Eşik Değer |
zh-CN | Chinese (China) | T-细胞受体重排删除环: Synonyms: T 细胞; |
Example Units
Unit | Source |
---|---|
{Ct_value} | Example UCUM Units |
92007-4 T-cell receptor excision circle [Z-score] in DBS
Part Descriptions
LP111251-7 T-cell receptor excision circle
T cell receptor excision circles (TRECs) are formed as a byproduct of T cell receptor (TCR) generation in the thymus. Every T cell has a unique TCR, and formation of TCRs involves DNA rearrangement into different combinations of variable, diversity, and joining sequences. As these combinations are created, the remaining fragments of excised DNA form circular structures, or TRECs. The number of TRECs is proportional to T cell production, with low TREC numbers being an indicator of inadequate T cell production. In newborns, dried blood spot TREC analysis is used to screen for severe combined immunodeficiency as well as other disorders associated with low T cell counts, such as DiGeorge syndrome, trisomy 21, CHARGE syndrome, and congenital leukemia. PMID: 25937517
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- T-cell receptor excision circle
- Property
- Zscore
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- TREC Z-score DBS
- Display Name
- T-cell receptor excision circle (DBS) [Z-score]
- Consumer Name Alpha Get Info
- T-cell receptor excision circle, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.66
- Last Updated
- Version 2.66
- Order vs. Observation
- Both
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) |
62333-0 | Severe combined immunodeficiency (SCID) newborn screening panel |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-MX | Spanish (Mexico) | Círculo de escisión del receptor de células T: |
es-ES | Spanish (Spain) | Círculos de escisión del receptor de células T: Synonyms: Cuantitativo |
fr-FR | French (France) | Récepteur cellules T cercle d'excision: |
it-IT | Italian (Italy) | Linfocita T, circolo di escissione recettore: Synonyms: Chimica Circolo di escissione di recettore di linfocita T Linfocita T Punto nel tempo (episodio) Sangue Spot sangue secco Z-score |
nl-NL | Dutch (Netherlands) | T-celreceptor excisiecirkel: |
ru-RU | Russian (Russian Federation) | T-клеточного рецептора исключения круг: Synonyms: Z-тест Фишера Количественный Кровь Кровь сухая капля Точка во времени; |
tr-TR | Turkish (Turkey) | T-hücresi reseptörü excision circle: |
zh-CN | Chinese (China) | T-细胞受体重排删除环: Synonyms: T 细胞; |
Example Units
Unit | Source |
---|---|
{Zscore} | Example UCUM Units |
92008-2 T-cell receptor excision circle [Multiple of the median] in DBS
Part Descriptions
LP111251-7 T-cell receptor excision circle
T cell receptor excision circles (TRECs) are formed as a byproduct of T cell receptor (TCR) generation in the thymus. Every T cell has a unique TCR, and formation of TCRs involves DNA rearrangement into different combinations of variable, diversity, and joining sequences. As these combinations are created, the remaining fragments of excised DNA form circular structures, or TRECs. The number of TRECs is proportional to T cell production, with low TREC numbers being an indicator of inadequate T cell production. In newborns, dried blood spot TREC analysis is used to screen for severe combined immunodeficiency as well as other disorders associated with low T cell counts, such as DiGeorge syndrome, trisomy 21, CHARGE syndrome, and congenital leukemia. PMID: 25937517
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- T-cell receptor excision circle
- Property
- MoM
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- TREC MoM DBS
- Display Name
- T-cell receptor excision circle (DBS) [MoM]
- Consumer Name Alpha Get Info
- T-cell receptor excision circle, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.66
- Last Updated
- Version 2.66
- Order vs. Observation
- Both
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) |
62333-0 | Severe combined immunodeficiency (SCID) newborn screening panel |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-MX | Spanish (Mexico) | Círculo de escisión del receptor de células T: |
es-ES | Spanish (Spain) | Círculos de escisión del receptor de células T: Synonyms: Cuantitativo |
fr-FR | French (France) | Récepteur cellules T cercle d'excision: |
it-IT | Italian (Italy) | Linfocita T, circolo di escissione recettore: Synonyms: Chimica Circolo di escissione di recettore di linfocita T Linfocita T Multipli della mediana Punto nel tempo (episodio) Sangue Spot sangue secco |
nl-NL | Dutch (Netherlands) | T-celreceptor excisiecirkel: Synonyms: MoM |
ru-RU | Russian (Russian Federation) | T-клеточного рецептора исключения круг: Synonyms: Количественный Кратность по отношению к среднему уровню Кровь Кровь сухая капля Точка во времени; |
tr-TR | Turkish (Turkey) | T-hücresi reseptörü excision circle: |
zh-CN | Chinese (China) | T-细胞受体重排删除环: Synonyms: MoM; |
Example Units
Unit | Source |
---|---|
{M.o.M} | Example UCUM Units |