Version 2.78

Description

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

Basic Part Properties

Part Display Name
Fetal 5p deletion risk
Part Type
Component (Describes the core component or analyte measured)
Created On
2014-09-12
Construct for LOINC Short Name
5p del risk

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP185908-3

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) 胎儿 5p 染色体缺失风险
Synonyms: 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）综合征风险（危险性、风险性、危险）;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;勒琼综合征;勒琼氏综合征;Cri du chat syndrome;chromosome 5p deletion syndrome;5p− syndrome;Lejeune''s syndrome
es-ES Spanish (Spain) Riesgo de deleción 5p
it-IT Italian (Italy) Delezione 5p rischio
tr-TR Turkish (Turkey) 5p delesyon riski
nl-NL Dutch (Netherlands) risico op foetale 5p-deletie
Synonyms: 5p deletierisico; risico op 5p-deletie bij foetus