Version 2.78

Part Descriptions

LP190794-0   Cells.4q12 chromosome region rearrangements
Chromosome region 4q12 rearrangements are associated with myeloid and lymphoid neoplasms due to disruption of the PDGFRA and/or FGFR1 genes. Patients with rearrangement(s) involving PDGFRA most commonly present with chronic eosinophilic leukemia but also can present as acute myeloid leukemia (AML) and/or T-lymphoblastic leukemia/lymphoma (T-ALL). Patients with FGFR1 involvement have various presentations including AML, T- or B-lymphoblastic leukemia/lymphoma (B-ALL), or a mixed phenotype acute leukemia. Imatinib mesylate (imatinib) is the first-line therapy for patients with abnormalities of PDGFRA, whereas patients with FGFR1 fusions are resistant to this therapy and carry a poor prognosis. PMID: 23489324 Source: Regenstrief LOINC

LP62864-1   FISH
FISH (fluorescence in situ hybridization) is a cytogenetic technique used to detect and localize the presence or absence of specific DNA sequences on chromosomes. FISH uses fluorescent probes that bind to only those parts of the chromosome with which they show a high degree of sequence similarity. Fluorescence microscopy can be used to find out where the fluorescent probe bound to the chromosomes. FISH is often used for finding specific features in DNA for use in genetic counseling, medicine, and species identification. FISH can also be used to detect and localize specific mRNAs within tissue samples. In this context, it can help define the spatial-temporal patterns of gene expression within cells and tissues. 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, FISH

Fully-Specified Name

Component
Cells.4q12 chromosome region rearrangements/Cells counted
Property
NFr
Time
Pt
System
Bld/Tiss
Scale
Qn
Method
FISH

Additional Names

Short Name
Cells.4q12 rear/Cells cnt NFr Bld/T FISH
Display Name
Cells.4q12 chromosome region rearrangements/Cells counted FISH (Bld/Tiss)
Consumer Name Alpha Get Info
Cells.4q12 chromosome region rearrangements/Cells Counted, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.REARRANGE
Type
Laboratory
First Released
Version 2.54
Last Updated
Version 2.61
Order vs. Observation
Observation

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Reordenamiento en la región cromosómica 4q12/Contaje celular:Fracción numérica:Punto temporal:Sangre o tejido:Qn:Hibridación in situ fluoresente (FISH)
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Células Reordenamientos de la región cromosómica 4q12 / Células contadas:Fracción numérica:Punto temporal:Sangre o tejido:Cuantitativo:Hibridación fluorescente in situ (FISH)
fr-FR French (France) Chromosome région 4q12 % réarrangements:Fraction de nombres:Ponctuel:Sang/Tissu:Numérique:FISH
it-IT Italian (Italy) Cellule.Riarrangiamenti della regione cromosomica 4q12/Cellule contate:NFr:Pt:Sangue/Tess:Qn:FISH
Synonyms: Frazione numerica Ibridazione in situ fluorescente (FISH) Patologia molecolare Punto nel tempo (episodio) Riarrangiamento genico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) cellen.4q12-chromosoomgebied translocaties/getelde cellen:getalsfractie:moment:bloed of weefsel:kwantitatief:FISH
Synonyms: 4q12-chromosoom gebied translocaties
pl-PL Polish (Poland) Komórki.rearanżacja regionu chromosomowego 4q12/zliczone komórki:frakcja liczbowa:punkt w czasie:krew lub tkanka:ilościowy:fluorescencyjna hybrydyzacja in situ (FISH)
Synonyms: Komórki z rearanżacją w regionie 12 długiego ramienia chromosomu 4 Komórki z rearanżacją w regionie 12 długiego ramienia chromosomu 4 w stosunku do zliczonych komórek
tr-TR Turkish (Turkey) Hücreler.4q12 Kromozom bölgesi yeniden düzenleme/Hücreler sayılan:SayFr:Zmlı:Kan/Dk:Kant:FISH
zh-CN Chinese (China) 细胞.4q12 染色体区域重排/已计数的细胞:计数型分数:时间点:全血/组织:定量型:FISH
Synonyms: 4q12 染色体区域（染色体部位、染色体区、染色体区带、染色体部）重排 Fluorescent in situ hybridization;荧光原位杂交 全血或组织;血液/组织;血液或组织 分子病理学.基因重排;分子病理学.重排;分子病理学试验.基因重排;分子病理学试验.重排;分子病理学试验类.重排;基因重排;重排 分子病理学;分子病理学试验 区;地区;局部 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 所计数的细胞;计数细胞;所计数细胞;已计数细胞 所计数细胞;已计数过细胞;已计数细胞;已计过数细胞 数量型分数;数量或计数型分数;数量型分数或计数型分数 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 染色体二体型+染色体三体型 染色体部位;染色体区;染色体区带;染色体部;染色体区域（染色体部位、染色体区、染色体区带、染色体部） 细胞.4q12 染色体区域（染色体部位、染色体区、染色体区带、染色体部）重排 细胞含量;细胞性;细胞性质;细胞构成;细胞类 血;血液

Example Units

Unit Source
% Example UCUM Units

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=78211-0