Version 2.77

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 Description

LP185771-5   Fetal Angelman syndrome risk
Angelman syndrome risk refers to the fetus's risk of having Angelman syndrome. The risk for the fetus can be derived from the general population risk as well as prenatal genetic testing of fetal DNA.Angelman syndrome is primarily caused by the functional loss of the UBE3A gene on chromosome 15. In certain areas of the brain, only the maternal copy of this gene is active due to genomic imprinting, and in Angelman syndrome, the maternal copy is missing. The genetic basis for Angelman syndrome is the inverse of the basis for Prader-Willi syndrome, in which the paternal copy of certain genes on chromosome 15 are missing. About 70% of cases are due to the deletion of a portion of the maternal chromosome 15, and another 11% are due to a mutation in the maternal copy of UBE3A. Cases may also be due to the presence of two paternal chromosome 15 copies (called uniparental disomy, meaning two copies from one parent) instead of one maternal and one paternal, chromosomal translocation, or abnormal inactivation of genes on maternal chromosome 15. In 10 to 15% of cases, the cause is unknown.
Angelman syndrome is associated with cognitive delay, seizure disorder, speech impairment, and microcephaly. Children with Angelman syndrome exhibit a happy appearance with frequent smiling, laughing, and hand-flapping, as well as hyperactivity and short attention span. The general population risk of Angelman syndrome is about 1 in 12,000 - 20,000 live births, and does not change with maternal age. [MedlinePlus Condition: angelman-syndrome] Source: Regenstrief LOINC, GHR: Angelman syndrome

Fully-Specified Name

Component
Fetal Angelman syndrome risk
Property
Imp
Time
Pt
System
WBC.DNA+Plas.cfDNA
Scale
Ord
Method
Dosage of chromosome specific cf DNA

Additional Names

Short Name
Fet AS risk WBC.DNA+cfDNA Ql
Display Name
Angelman syndrome risk Dosage of chromosome-specific cfDNA Ql (Plasma cell-free+WBC DNA) [Interp]
Consumer Name Alpha Get Info
Fetal Angelman syndrome risk

Example Answer List: LL3000-8

Source: Natera
Answer Code Score Answer ID
Low risk LA19542-2
High risk LA19541-4
Risk unchanged LA21393-6
Test not performedCopyright http://snomed.info/sct ID:262008008 Not performed (qualifier value) LA13546-9

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.50
Last Updated
Version 2.73
Change Reason
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) Riesgo de síndrome de Angelman:Impresión/interpretación del estudio:Punto temporal:ADN en plasma libre de células y leucocitos:Ord:Dosificación de ADN ccf de cromosoma específico
es-MX Spanish (Mexico) Riesgo de síndrome de Angelman fetal:Impresión / interpretación del estudio:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Ordinal:Dosis de cfDNA cromosómico específico
fr-FR French (France) Risque syndrome d'Angelman foetal:Interprétation:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Qualitatif:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT Italian (Italy) Sindrome di Angelman, rischio:Imp:Pt:WBC.DNA+Plas.cfDNA:Ord:Dosaggio di DNA libero fetale circolante cromosoma specifico
Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Impressione/interpretazione di studio Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di sindrome di Angelman
zh-CN Chinese (China) 胎儿安吉尔曼综合征风险:印象:时间点:白细胞.DNA+血浆.cfDNA:序数型: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 依次型;分类顺序型;定性的;序数型(或称等级型);性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 分子病理学;分子病理学试验 印象是一种诊断陈述,始终是对其他某种观察指标的解释或抽象(一系列检验项目结果、一幅图像或者整个某位病人),而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 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 特异 特异性的 特异的 胎儿 Angelman 综合征风险(危险性、风险性、危险);快乐木偶综合征风险;安裘曼氏症风险;天使人综合症风险;快乐木偶综合症风险 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

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=75590-0