Version 2.78

Part Description

LP185907-5   based on general population risk
The risk of having or developing a specific disorder can be calculated by several different methods. One method uses known statistics for the general population as a whole to estimate a single individual's risk. For example, if 30 cases of a certain genetic condition that presents at birth are diagnosed in one year in a geographic area that has 300,000 live births per year, the individual infant's risk of having this condition is approximately 1 in 10,000 live births. Source: Regenstrief LOINC

Fully-Specified Name

Component
22q11.2 deletion prior risk
Property
Likelihood
Time
Pt
System
^Fetus
Scale
Nar
Method
Based on general population risk

Additional Names

Short Name
Fet 22q11.2 del prior risk from Pop risk
Display Name
22q11.2 del prior risk based on general population risk Nar (fetus)
Consumer Name Alpha Get Info
Fetal 22q11.2 deletion prior risk

Basic Attributes

Class
MOLPATH.DEL
Type
Laboratory
First Released
Version 2.50
Last Updated
Version 2.73
Order vs. Observation
Both

Member of these Panels

LOINC Long Common Name
96978-2 Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Riesgo previo de deleción 22q11.2:Probabilidad:Punto temporal:^Feto:Narrativo:Basado en el riesgo de la población general
es-MX Spanish (Mexico) Riesgo previo de deleción 22q11.2:Probabilidad:Punto temporal:^ Feto:Narrativo:basado en el riesgo de la población general
fr-FR French (France) Risque prédominant délétion 22q11.2:Probabilité:Ponctuel:Concerne le foetus:Résultat textuel:Basé sur le risque pour la population
it-IT Italian (Italy) Delezione 22q11.2 rischio preesistente:Probabilità:Pt:^feto:Nar:basato sul rischio nella popolazione generale
Synonyms: Delezione genetica Patologia molecolare Punto nel tempo (episodio)
zh-CN Chinese (China) 22q11.2 染色体缺失先验风险:似然性:时间点:^胎儿:叙述型:基于一般人群风险的方法
Synonyms: 22q11.2 染色体缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）先验风险（事前风险、事先风险）;22q11.2 染色体缺失综合征先验风险（危险性、风险性、危险）;染色体 22q11.2 缺失症候群先验风险;迪乔治综合征先验风险;DiGeorge 综合征先验风险;迪乔治综合症先验风险;狄乔治氏症候群先验风险;迪格奥尔格综合征先验风险;DiGeorge syndrome;DGS;迪乔治畸形;DiGeorge anomaly;颚心脸综合征;腭心面综合征;心瓣面综合征;圆锥动脉干异常面容综合征;异 分子病理学.基因缺失;分子病理学.缺失;分子病理学试验.基因缺失;分子病理学试验.缺失;分子病理学试验类.缺失;基因缺失;缺失 分子病理学;分子病理学试验 叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型 可能性;似然;可能 基于一般（普通）人群风险的方法 时刻;随机;随意;瞬间 胎;超系统 - 胎儿

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=75575-1