LP185989-3     Genetic counselor comment on fetal 22q11.2 deletion risk

DESCRIPTION
  Part: Genetic counselor comment on fetal 22q11.2 deletion risk
  Description: 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.
 
 
  Part: Genetic counselor comment on fetal 22q11.2 deletion risk
  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. [GHR: 22q112-deletion-syndrome]
 
 

BASIC PART PROPERTIES
  Construct for LOINC short name: Gen couns comm fet 22q11.2del risk
  Type: COMPONENT
  Status: ACTIVE
  Created On: 9/26/2014

LANGUAGE VARIANTS
 
  Chinese (CHINA)  (From: Lin Zhang, A LOINC volunteer from China)   SYNONYMS
  关于22q11.2 染色体缺失风险的遗传咨询师意见     关于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;圆锥
 
  Italian (ITALY)  (From: Consiglio Nazionale delle Ricerche)    
  Commento di consulente genetico su rischio delezione 22q11.2      
 
  Spanish (SPAIN)  (From: the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)    
  Comentario de consejo genético en riesgo de deleción 22q11,2      
 
  Turkish (TURKEY)  (From: LOINC Turkish Translation Group and the Turkish Ministry of Health)    
  22q11.2 delesyon riski genetik danışman önerisi      

INTERNAL FIELDS
  Detail Page Created On: 6/20/2019 9:45:55 AM
  Display name: Genetic counselor comment on fetal 22q11.2 deletion risk
  Preferred Abbreviation: Gen couns comm fet 22q11.2del risk