LP185774-9     Fetal 1p36 deletion risk

DESCRIPTION
  Part: Fetal 1p36 deletion risk
  Description: 1p36 deletion syndrome is caused by the deletion of several genes in the short arm of chromosome 1 and is associated with severe cognitive delay, seizure disorder, weak muscle tone, swallowing difficulty, and distinctive facial features. The general population risk of 1p36 deletion is about 1 in 5,000 - 10,000 live births, and does not change with maternal age. Fetal risk of having 1p36 deletion syndrome can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. [GHR: 1p36-deletion-syndrome]
 
 

BASIC PART PROPERTIES
  Construct for LOINC short name: 1p36 del risk
  Type: COMPONENT
  Status: ACTIVE
  Created On: 8/15/2014

LANGUAGE VARIANTS
 
  Chinese (CHINA)  (From: Lin Zhang, A LOINC volunteer from China)   SYNONYMS
  1p36 染色体缺失风险     1p36 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 1p36 缺失症候群风险;1p36 染色体缺失综合征;单体型 1p36;单体性 1p36 单体;1p36;1p36 deletion syndrome;monosomy 1p36
 
  Dutch (NETHERLANDS)  (From: NVKC, Dutch Society for Clinical Chemistry and Laboratory Medicine, The Netherlands)    
  1p36 deletie voorafkans      
 
  Italian (ITALY)  (From: Consiglio Nazionale delle Ricerche)    
  Delezione 1p36 rischio      
 
  Spanish (SPAIN)  (From: the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)    
  Riesgo de deleción 1p36      
 
  Turkish (TURKEY)  (From: LOINC Turkish Translation Group and the Turkish Ministry of Health)    
  1p36 delesyon riski      

INTERNAL FIELDS
  Detail Page Created On: 6/20/2019 9:45:35 AM
  Display name: Fetal 1p36 deletion risk
  Preferred Abbreviation: 1p36 del risk