Version 2.80

Part Description

LP33556-9   Chromosome uniparental disomy
Uniparental disomy (UPD) occurs when an individual inherits two copies of a chromosome, or part of a chromosome, from one parent and no copies from the other parent. UPD can be the result of heterodisomy, in which a pair of non-identical chromosomes are inherited from one parent (an earlier stage meiosis I error) or isodisomy, in which a single chromosome from one parent is duplicated (a later stage meiosis II error). Because it may lead to the duplication of lethal recessive genes, isodisomy is potentially dangerous, while heterodisomy is essentially benign. Conditions that occur due to UPD include Prader-Willi syndrome (chromosome 15), Angelman syndrome (chromosome 15), and Beckwith-Wiedemann syndrome (chromosome 11). Chromosome 14 is also known to cause particular symptoms such as skeletal abnormalities, mental retardation and joint contractures among others. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia , Uniparental disomy

Fully-Specified Name

Component
Chromosome uniparental disomy
Property
Prid
Time
Pt
System
Amnio fld/CVS
Scale
Nar
Method
Molgen

Additional Names

Long Common Name
Chromosome uniparental disomy [Identifier] in Amniotic fluid or Chorionic villus sample by Molecular genetics method Narrative
Short Name
Chr UpDi Amn/CVS
Display Name
Chr uniparental disomy Molgen Nar (Amnio fld/CVS)
Consumer Name Alpha Get Info
Chromosome uniparental disomy, Amnio Fld/CVS

Basic Attributes

Class
MOLPATH.TRISOMY
Type
Laboratory
First Released
Version 2.50
Last Updated
Version 2.73 (MIN)
Order vs. Observation
Both
Common Test Rank Get Info
16999

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Μονογονεϊκή δισωμία χρωμοσώματος:Prid:Pt:Αμνιακό υγρό/ΕΝΥ:Nar:Μοριακή γενετική
Synonyms: Prid Μονογονεϊκή δισωμία χρωμοσώματος Χρωμόσωμα
es-ES Spanish (Spain) Disomía uniparental cromosómica:Presencia o identidad:Punto temporal:Líquido amniótico o muestra de vellosidades coriónicas:Narrativo:Genética molecular
es-MX Spanish (Mexico) Disomía uniparental cromosómica:Presencia o identidad:Punto temporal:Muestra de líquido amniótico o vellosidades coriónicas:Narrativo:Genética molecular
fr-FR French (France) Chromosome disomie uniparentale:Identification:Ponctuel:Liquide amniotique/Villosités choriales:Résultat textuel:Biologie moléculaire
it-IT Italian (Italy) Disomia cromosomica uniparentale:Prid:Pt:Liquido amniotico/Villi coriali, prelievo:Nar:Molgen
Synonyms: Campione di villi coriali Genetica molecolare Liquido amniotico Patologia molecolare Prelievo del liquido amniotico o dei villi coriali Presenza o Identità Punto nel tempo (episodio) Trisomia cromosoma genetica
pl-PL Polish (Poland) Jednorodzicielska disomia chromosomu:wykrycie lub identyfikacja:punkt w czasie:próbka płynu owodniowego lub kosmka kosmówki:opisowy:genetyka molekularna
tr-TR Turkish (Turkey) Kromozom uniparental dizomi:MevcKimlik:Zmlı:Amnio sv/CVS:Öykü:Molgen
Synonyms: Amniyon mayii
zh-CN Chinese (China) 染色体单亲双体性:存在与否或特征标识:时间点:羊水/绒毛膜绒毛样本:叙述型:分子遗传学类实验室方法
Synonyms: 三体型 三体细胞 三染色体性 三染色体细胞 分子病理学;分子病理学试验 分子病理学试验类.三体性（三体型） 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 存在;存在与否;特征标识;身份;身份标识 时刻;随机;随意;瞬间 染色体二体型+染色体三体型 染色体单亲二体型;染色体单亲二体性;染色体单亲双体型 绒毛膜绒毛标本;绒膜绒毛标本;绒膜绒毛样本 羊水（羊膜水、胎水）或绒毛膜绒毛样本（绒毛膜绒毛标本、绒膜绒毛标本、绒膜绒毛样本、CVS） 羊膜水;胎水

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=75394-7