Version 2.78

Description

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

Basic Part Properties

Part Display Name
Fetal 22q11.2 deletion risk
Part Type
Component (Describes the core component or analyte measured)
Created On
2014-08-15
Construct for LOINC Short Name
22q11.2 del risk

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP185776-4

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) 胎儿 22q11.2 染色体缺失风险
Synonyms: 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）综合征风险（危险性、风险性、危险）;染色体 22q11.2 缺失症候群风险;迪乔治综合征风险;DiGeorge 综合征风险;迪乔治综合症风险;狄乔治氏症候群风险;迪格奥尔格综合征风险;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;异常面综合征;斯特朗综合征;先天性胸腺发育不全;先天性胸腺发育不良;胸腺发育不全;
es-ES Spanish (Spain) Riesgo de deleción 22q11.2
it-IT Italian (Italy) Delezione 22q11.2 rischio
tr-TR Turkish (Turkey) 22q11.2 delesyon riski
nl-NL Dutch (Netherlands) risico op foetus met 22p11.2-deletie
Synonyms: risico op foetale 22q11.2 deletie