Version 2.79

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 Name
Chromosome region 22q11.2
Part Display Name
Chromosome region 22q11.2
Part Type
Component (Describes the core component or analyte measured)
Created On
2016-03-29
Construct for LOINC Short Name
Chr 22q11.2

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP208597-7

Language Variants Get Info

Tag Language Translation
it-IT Italian (Italy) Regione cromosomica 22q11.2
zh-CN Chinese (China) 染色体区域 22q11.2
Synonyms: 染色体区域（染色体部位、染色体区、染色体区带、染色体部） 22q11.2
es-ES Spanish (Spain) Región cromosómica 22q11.2
nl-NL Dutch (Netherlands) chromosoomgebied 22q11.2
pl-PL Polish (Poland) Region chromosomowy 22q11.2
el-GR Greek (Greece) Χρωμοσωμική περιοχή 22q11.2
Synonyms: Χρωμοσωμική περιοχή 22q11.2