Version 2.78

Descriptions

22q11.2 deletion syndrome, also known by many other names including DiGeorge syndrome, CATCH22, and velocardiofacial syndrome, is caused by the deletion of a small piece of chromosome 22. 22q11.2 deletion syndrome is associated with variable characteristics including congenital heart disease, recurrent infection due to immune dysfunction, cleft palate and other distinct facial features, cognitive delay and autoimmune disease. The general population risk of 22q11.2 deletion is about 1 in 4,000 live births, and does not change with maternal age. Fetal risk of having 22q11.2 deletion syndrome can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. [MedlinePlus Condition: 22q112-deletion-syndrome] Source: Regenstrief LOINC, GHR: 22q11.2 deletion syndrome

The genetic counselor's comment regarding risk of a specific disorder or group of disorders is used to convey follow-up recommendations or other information related to the risk result and interpretation. Source: Regenstrief LOINC

Basic Part Properties

Part Display Name
Comment on fetal 22q11.2 deletion risk
Part Type
Component (Describes the core component or analyte measured)
Created On
2014-09-26
Construct for LOINC Short Name
Fet 22q11.2del risk comment

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP185989-3

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) 关于胎儿 22q11.2 染色体缺失风险的遗传咨询师意见
Synonyms: 关于胎儿 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）（22q11.2 染色体缺失综合征、染色体 22q11.2 缺失症候群、迪乔治综合征、DiGeorge 综合征、迪乔治综合症、狄乔治氏症候群、迪格奥尔格综合征）风险（危险性、风险性、危险）的遗传咨询师（遗传病辅导员、基因咨询师、遗传谘询师、基因谘询师）意见（评论、解释、注释、注解、点评）;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
es-ES Spanish (Spain) Comentario de consejo genético en riesgo de deleción 22q11,2
it-IT Italian (Italy) Commento su rischio delezione 22q11.2
tr-TR Turkish (Turkey) 22q11.2 delesyon riski genetik danışman önerisi