62321-5
Severe combined immunodeficiency newborn screen interpretation
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Part Description
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.
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Source: Wikipedia, Wikipedia
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
Preferred Answer List: LL840-0
Source: Regenstrief Institute| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| IndeterminateCopyright 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 |
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
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) | Inmunodeficiencia combinada severa: |
| es-MX | Spanish (Mexico) | Inmunodeficiencia combinada grave: |
| 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; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=62321-5
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LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright