54078-1
Cystic fibrosis newborn screening panel
Active
46769-6 Cystic fibrosis newborn screen interpretation
Part Descriptions
LP56779-9 Cystic fibrosis
An autosomal recessive genetic disease of the exocrine glands. It is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator expressed in several organs including the lung, the pancreas, the biliary system, and the sweat glands. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in airway obstruction, chronic respiratory infections, pancreatic insufficiency, maldigestion, salt depletion, and heat prostration.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Cystic fibrosis
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- CF DBS-Imp
- Display Name
- Cystic fibrosis (DBS) [Interp]
- Consumer Name Alpha Get Info
- Cystic fibrosis, 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
- 3938
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-ES | Spanish (Spain) | Fibrosis quística: |
| es-MX | Spanish (Mexico) | Fibrosis quística: |
| fr-FR | French (France) | Fibrose kystique: |
| fr-BE | French (Belgium) | Mucovscidose: |
| fr-CA | French (Canada) | Mucoviscidose: |
| it-IT | Italian (Italy) | Fibrosi cistica: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | cystische fibrose: Synonyms: cystic fibrosis; |
| pt-BR | Portuguese (Brazil) | Fibrose cística: Synonyms: Cystic fibr; |
| ru-RU | Russian (Russian Federation) | Кистозный фиброз: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Муковисцидоз Номинальный; |
| tr-TR | Turkish (Turkey) | Kistik fibrozis: |
| zh-CN | Chinese (China) | 囊性纤维化: Synonyms: CF; |
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.
57707-2 Cystic fibrosis newborn screening comment-discussion
Part Descriptions
LP56779-9 Cystic fibrosis
An autosomal recessive genetic disease of the exocrine glands. It is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator expressed in several organs including the lung, the pancreas, the biliary system, and the sweat glands. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in airway obstruction, chronic respiratory infections, pancreatic insufficiency, maldigestion, salt depletion, and heat prostration.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Cystic fibrosis newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- CF NBS comment
- Display Name
- Cystic fibrosis newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Cystic fibrosis 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
- 16265
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) | Comentario-discusión sobre el cribado neonatal de fibrosis quística: |
| es-ES | Spanish (Spain) | Fibrosis quística screnning de recién nacidos comentario-discusión: |
| fr-FR | French (France) | Fibrose kystique dépistage néonatal (commentaire-discussion): |
| fr-BE | French (Belgium) | Mucovscidose Commentaires.screening néonatal.discussion: |
| it-IT | Italian (Italy) | Fibrosi cistica , screening neonatale, commenti-discussione: Synonyms: Chimica Commento/discussione di screening neonatale per fibrosi cistica Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | cystische fibrose screening van pasgeborene commentaar-discussie: Synonyms: cystic fibrosis; |
| pt-BR | Portuguese (Brazil) | Fibrose cística na triagem neonatal comentários-discussão: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Кистозный фиброз новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Муковисцидоз Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Kistik fibrozis yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 囊性纤维化 新生儿筛查注释-讨论: Synonyms: Asympt CF; |
54083-1 CFTR gene mutations found [Identifier] in DBS by Molecular genetics method Nominal
Part Descriptions
LP19684-7 CFTR gene
The CFTR gene (cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)) [HGNC Gene ID:1884] is located on chromosome 7q31.2. This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily that is involved in multi-drug resistance. The encoded protein functions as a chloride channel and controls the regulation of other transport pathways. Mutations in this gene are associated with the autosomal recessive disorders cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternatively spliced transcript variants have been described, many of which result from mutations in this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:1080]
Source: National Center for Biotechnology Information (NCBI) Gene
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- CFTR gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- CFTR Mut Anl DBS
- Display Name
- CFTR gene targeted mutation analysis Molgen Nom (DBS)
- Consumer Name Alpha Get Info
- CFTR gene targeted mutation analysis, Dried blood spot
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.73
- Change Reason
- Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17117
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) | Gen CFTR Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen CFTR: |
| fr-FR | French (France) | CFTR gène mutation cible trouvée: |
| it-IT | Italian (Italy) | CFTR, gene analisi di mutazione mirata: Synonyms: Gene CFTR Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | CFTR-gen doelgerichte mutatie-analyse: Synonyms: CFTR gen molgen targeted |
| pt-BR | Portuguese (Brazil) | CFTR análise de mutação do gene: Synonyms: Cystic fibrosis transmembrane conductance regulator; |
| ru-RU | Russian (Russian Federation) | CFTR ген исследование на мутацию: Synonyms: Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | CFTR geni Mutasyon analizi: |
| zh-CN | Chinese (China) | CFTR 基因 突变分析: Synonyms: ABC35; |
2077-6 Chloride [Moles/volume] in Sweat
Term Description
Extended monitoring of sweat composition allows for athlete and patient health, welfare and performance to be examined. With this information, corrective modifications to fluid and dietary intake can be made. Sweat contains many ions, including sodium, potassium, calcium, magnesium, and chloride among others. Sweat composition analysis also detects chemical changes indicative of cystic fibrosis, infections and other imbalances. PMID: 28336151
Source: Regenstrief LOINC
Part Descriptions
LP15483-8 Chloride
The chloride ion is formed when the element chlorine picks up one electron to form an anion negatively-charged ion Cl−. The salts of hydrochloric acid contain chloride ions and can also be called chlorides.
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, Chloride
LP15483-8 Chloride
Chloride is an essential mineral required by humans that is found mainly in body fluids. It is an important, negatively charged ion in the blood, and a major electrolyte that helps to conduct electrical impulses. Electrolytes including chloride are located in the blood, lymph, and intra- and extra-cellular fluid. Chloride helps to regulate osmolarity by offsetting the positively charged sodium and potassium ions in the serum. It combines with hydrogen to form hydrochloric acid in the digestive tract which breaks down proteins, absorbs metallic minerals, and activates intrinsic factor. Chloride is absorbed both actively and passively in order to help maintain extracellular fluid volume. There is a continuous exchange of chloride and bicarbonate that occurs between the red blood cells and the plasma that controls the pH and excretion of carbon dioxide, a waste product of respiration.[https://traceminerals.com/chloride-the-forgotten-essential-mineral/]
Source: Regenstrief LOINC
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Lab Tests Online®Copyright Copyright © 2021 Lab Tests Online. All rights reserved. | Sweat Chloride Test |
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Chloride
- Property
- SCnc
- Time
- Pt
- System
- Sweat
- Scale
- Qn
- Method
Additional Names
- Short Name
- Chloride Sweat-sCnc
- Display Name
- Chloride (Sweat) [Moles/Vol]
- Consumer Name Alpha Get Info
- Chloride, Sweat
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 1.0
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 2927
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 74993-7 | Chloride and sodium panel [Moles/volume] - Sweat |
| 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 |
|---|---|---|
| de-DE | German (Germany) | Chlorid: |
| de-AT | German (Austria) | Synonyms: Chlorid /SW |
| es-ES | Spanish (Spain) | Cloro: Synonyms: Cuantitativo |
| es-AR | Spanish (Argentina) | cloruro: |
| es-MX | Spanish (Mexico) | Cloruro: |
| et-EE | Estonian (Estonia) | Kloriid: Synonyms: Aine kontsentratsioon Higi Juhuslik Kvantitatiivne |
| fr-FR | French (France) | Chlore: |
| fr-CA | French (Canada) | Chlorure: |
| fr-BE | French (Belgium) | Chlorure: Synonyms: Cl- |
| it-IT | Italian (Italy) | Cloruro: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) |
| ko-KR | Korean (Korea, Republic Of) | 염화물: |
| nl-NL | Dutch (Netherlands) | chloride: |
| pl-PL | Polish (Poland) | Chlorek: |
| pt-BR | Portuguese (Brazil) | Cloreto: Synonyms: Cl-; |
| ru-RU | Russian (Russian Federation) | Хлорид: Synonyms: Количественный Молярность; |
| tr-TR | Turkish (Turkey) | Klorür: |
| zh-CN | Chinese (China) | 氯: Synonyms: Cl; |
Example Units
| Unit | Source |
|---|---|
| mmol/L | Example UCUM Units |
| mmol/L | REGENSTRIEF |
48633-2 Trypsinogen I Free [Mass/volume] in DBS
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Trypsinogen I.free
- Property
- MCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Trypsinogen I Free DBS-mCnc
- Display Name
- Trypsinogen I Free (DBS) [Mass/Vol]
- Consumer Name Alpha Get Info
- Free Trypsinogen I, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 1406
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) | Tripsinógeno I libre: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Tripsinógeno I libre: |
| et-EE | Estonian (Estonia) | Trüpsinogeen I.vaba: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Trypsinogène I.libre: |
| fr-FR | French (France) | Trypsinogène I libre: |
| fr-BE | French (Belgium) | Trypsinogène I.libre: |
| it-IT | Italian (Italy) | Tripsinogeno I.libero: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco Tripsinogeno I Libero |
| nl-NL | Dutch (Netherlands) | trypsinogeen I.vrij: |
| pt-BR | Portuguese (Brazil) | Tripsinogênio I.livre: Synonyms: Mass concentration; |
| ru-RU | Russian (Russian Federation) | Трипсиноген I.свободный: Synonyms: Количественный Кровь Кровь сухая капля Массовая концентрация Точка во времени; |
| tr-TR | Turkish (Turkey) | Tripsinojen I.serb: |
| zh-CN | Chinese (China) | 胰蛋白酶原 I.游离型: Synonyms: I 型 IRT 免疫反应性胰朊酶 免疫反应性胰蛋白酶 免疫反应性胰蛋白酶（Immunoreactive trypsin， |
Example Units
| Unit | Source |
|---|---|
| ug/L | Example UCUM Units |