46769-6
Cystic fibrosis newborn screen interpretation
Active
Part Description
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
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
Preferred Answer List: LL840-0
Source: Regenstrief InstituteAnswer | 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 2.19
- 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
Member of these Panels
LOINC | Long Common Name |
---|---|
54078-1 | Cystic fibrosis 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 |
---|---|---|
es-ES | Spanish (Spain) | Fibrosis quística: |
es-MX | Spanish (Mexico) | Fibrosis quística: |
fr-CA | French (Canada) | Mucovscidose: |
fr-FR | French (France) | Fibrose kystique: |
fr-BE | French (Belgium) | Mucovscidose: |
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; |
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=46769-6
Third Party Copyright
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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