Version 2.80

Part Descriptions

LP101433-3   Hypertrophic cardiomyopathy gene
Hypertrophic cardiomyopathy (HCM) is a relatively common genetic cardiac disease (~0.2% of the general population) defined by the presence of unexplained left ventricular hypertrophy (LVH). The clinical spectrum of HCM is heterogeneous with respect to disease-causing mutations, presentation, prognosis, and treatment strategies. PMID: 11886323 HCM is most commonly caused by mutations in one of the genes (e.g. MYH7, MYBPC3, TNNT2, TNNI3, TPM1) that encode different components of the sarcomere. Such mutations are found in approximately 50%-60% individuals with a family history of HCM, and approximately 20%-30% of individuals without a family history of HCM. PMID: 22068435 Other nonsarcomeric genes, such as CSRP3 (encoding muscle LIM protein), are also found to be associated with HCM by genome-wide linkage studies. PMID: 18505755 A variety of multi-gene analysis panels are available for HCM. The genes included and corresponding detection rate will vary between laboratories and over time within the same laboratory.[NCBI Books: NBK1768] Source: Regenstrief LOINC

LP208498-8   Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy, HCM or HOCM, is a disease of the myocardium (the muscle of the heart) in which a portion of the myocardium is hypertrophied (thickened) without any obvious cause. PMID: 11886323 The occurrence of hypertrophic cardiomyopathy is a significant cause of sudden unexpected cardiac death in any age group and as a cause of disabling cardiac symptoms. 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 , Hypertrophic cardiomyopathy

Fully-Specified Name

Component
Hypertrophic cardiomyopathy gene targeted mutation analysis
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
Molgen

Additional Names

Long Common Name
Hypertrophic cardiomyopathy gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Short Name
HCM Mut Anl Bld/T
Display Name
Hypertrophic cardiomyopathy gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
Hypertrophic Cardiomyopathy gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.68 (MIN)
Change Reason
"HCM" in the Component was spelled out as "Hypertrophic cardiomyopathy" to clarify that HCM is not a gene and that a set of genes involved in hypertrophic cardiomyopathy are being analyzed.; Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.; Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Γονίδιο υπερτροφικής μυοκαρδιοπάθειας στοχευμένη ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική
Synonyms: Γονίδιο Γονίδιο υπερτροφικής μυοκαρδιοπάθειας Εύρεση Καρδιομυοπάθεια
es-ES Spanish (Spain) Gen HCM Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen de la miocardiopatía hipertrófica:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FR French (France) Cardiomyopathie hypertrophique gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT Italian (Italy) Cardiomiopatia ipertrofica, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Gene della cardiomiopatia ipertrofica Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) HCM-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: HCM gen molgen targeted
pt-BR Portuguese (Brazil) HCM análise de mutação do gene:Ident:Pt:Sg/Tecido:Nar:Genética molecular
ru-RU Russian (Russian Federation) HCM ген исследование на мутацию:Находка:ТчкВрм:Кр/Тк:Док:МолГен
Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) HCM geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CN Chinese (China) HCM 基因 突变分析:发现:时间点:全血/组织:文档型:分子遗传学类实验室方法
Synonyms: 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 全血或组织;血液/组织;血液或组织 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 分子病理学;分子病理学试验 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 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 基因突变分析 家族性肥厚型心肌病;肥厚型心肌病;hypertrophic cardiomyopathy;HCM;肥厚型心肌病基因 心肌疾病 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传基因;遗传因子;吉恩;生物基因

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=60492-6