Version 2.78

Descriptions

5p deletion risk refers to the fetus's risk of having 5p deletion syndrome, also known as Cri-du-chat syndrome. The risk can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. 5p deletion syndrome is caused by the deletion of the short arm of chromosome 5. 5p deletion syndrome is associated with low birth weight, weak muscle tone, cognitive delay and microcephaly. The general population risk of 5p deletion is about 1 in 20,000 - 50,000 live births, and does not change with maternal age. [MedlinePlus Condition: cri-du-chat-syndrome] Source: Regenstrief LOINC, GHR: Cri-du-chat 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 5p deletion risk
Part Type
Component (Describes the core component or analyte measured)
Created On
2014-09-26
Construct for LOINC Short Name
Fet 5p del risk comment

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP185993-5

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) 关于胎儿 5p 染色体缺失风险的遗传咨询师意见
Synonyms: 关于胎儿 5p 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）（5p 染色体缺失综合征、染色体 5p 缺失症候群、猫叫综合征、猫叫综合症、猫哭症、猫叫症、5p− 综合征、Lejeune 综合征、勒琼综合征、勒琼氏综合征）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）;染色体 5p 缺失症候群风险;5p 染色体缺失综合征;猫叫综合征;猫叫综合症;猫哭症;猫叫症;5p− 综合征;Lejeune 综合征;勒琼综合
es-ES Spanish (Spain) Comentario de consejo genético en riesgo de deleción 5p
it-IT Italian (Italy) Commento su rischio delezione 5p
tr-TR Turkish (Turkey) 5p delesyen riski genetik danışman önerisi