81252-9
Discrete genetic variant
Trial
Status Information
- Status
- TRIAL
Term Description
This term is used to report the unique identifier of the simple variant found in this study. The identifier may come from various sources, including NCBI's ClinVar and Ensembl. For example, the variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys) has the ClinVar ID 30880 and would be reported in OBX-5 as 30880^NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys)^ClinVar. http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/
LOINC Names Get Info
- Fully-Specified Name
- Simple variant:
ID: Pt: ^Patient: Nom: - Long Common Name
- Discrete genetic variant
- Short Name
- Simple var ID
- Display Name
- Simple variant Nom [ID]
- Consumer Name Alpha Get Info
- Simple variant
Part Model Get Info
- Component
- Simple variant
LP212295-2
- Analyte
- Simple variant
LP212295-2
- Component Numerator
- Simple variant
LP212295-2
- Component Numerator Core
- Simple variant
LP212295-2
- Component Numerator Core Suffix
- NULL
- Component Denominator
- NULL
- Component Denominator Core
- NULL
- Component Denominator Core Suffix
- NULL
- Challenge
- NULL
- Adjustment
- NULL
- Count
- NULL
- Property
- ID
LP6818-1
- Time
- Pt
LP6960-1
- Time Core
- Pt
LP6960-1
- Time Modifier
- NULL
- System
- ^Patient
LP310005-6
- System Core
- NULL
- Super System
- Patient
LP6985-8
- Scale
- Nom
LP7750-5
- Method
- NULL
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.58 (MIN)
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| cs-CZ | Czech (Czechia) | Jednoduchá varianta: |
| el-GR | Greek (Greece) | Απλή παραλλαγή: Synonyms: - MOLPATH Nom Pt Αναγνωριστικό Απλή παραλλαγή Ασθενής |
| es-ES | Spanish (Spain) | Variante simple: |
| es-MX | Spanish (Mexico) | Variante simple: |
| fr-FR | French (France) | Variant simple: |
| it-IT | Italian (Italy) | Variante semplice: Synonyms: Identificatore Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 简单变异: Synonyms: 分子病理学; |
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.
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://