Version 2.78

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
Source: Regenstrief LOINC

Part Descriptions

LP185993-5   Comment on fetal 5p deletion risk
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

LP185993-5   Comment on fetal 5p deletion risk
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

Fully-Specified Name

Component
Comment on fetal 5p deletion risk
Property
Txt
Time
Pt
System
WBC.DNA+Plas.cfDNA
Scale
Nar
Method
Dosage of chromosome specific cf DNA

Additional Names

Long Common Name
Comment on fetal 5p deletion risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
Short Name
Fet 5p del risk comment
Display Name
Comment on fetal 5p del risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)
Consumer Name Alpha Get Info
Fetal Comment on fetal 5p deletion risk

Basic Attributes

Class
MOLPATH.DEL
Type
Laboratory
First Released
Version 2.50
Last Updated
Version 2.73
Change Reason
Release 2.70: COMPONENT: Removed "Genetic counselor" to broaden use since various specialists may provide comments on test results.; Previous Releases: Added "fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation
Both

Member of these Panels

LOINC Long Common Name
75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Comentario de consejo genético en riesgo de deleción 5p:Texto:Punto temporal:ADN en plasma libre de células y leucocitos:Narrativo:Dosificación de ADN ccf de cromosoma específico
es-MX Spanish (Mexico) Comentario del consejero genético sobre el riesgo de deleción fetal 5p:Texto:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Narrativo:Dosis de cfDNA cromosómico específico
fr-FR French (France) Risque délétion 5p foetale (commentaire du conseiller génétique):Texte:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Résultat textuel:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT Italian (Italy) Commento su rischio delezione 5p:Txt:Pt:WBC.DNA+Plas.cfDNA:Nar:Dosaggio di DNA libero fetale circolante cromosoma specifico
Synonyms: Delezione genetica DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Patologia molecolare Plasma Punto nel tempo (episodio) Testo
zh-CN Chinese (China) 关于胎儿 5p 染色体缺失风险的遗传咨询师意见:文本型属性:时间点:白细胞.DNA+血浆.cfDNA:叙述型:染色体特异性 cfDNA 剂量测定
Synonyms: WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞 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 分子病理学.基因缺失;分子病理学.缺失;分子病理学试验.基因缺失;分子病理学试验.缺失;分子病理学试验类.缺失;基因缺失;缺失 分子病理学;分子病理学试验 叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型 备注 备注;评论;注解;说明;评语 意见 文本;文本型;文本属性 时刻;随机;随意;瞬间 染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 注解 特异 特异性的 特异的 短评 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 血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA 解说 解释 评定 评注 评论 评语 说明

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CodeSystem lookup
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