Version 2.78

Term Description

Coded identifier of the disorder being assessed but with exception to allow the recording of something not included in the controlled vocabulary that is being used. Various coding systems may be used, including ICD-9-CM, ICD-10-CM, SCT and NCBI MedGen.
Source: Regenstrief LOINC

Fully-Specified Name

Component
Genetic disease assessed
Property
ID
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Gene dis assessed
Display Name
Genetic disease assessed Molgen Nom (Bld/Tiss) [ID]
Consumer Name Alpha Get Info
Genetic disease assessed, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.58
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
62389-2 Chromosome analysis master panel
55233-1 Genetic analysis master panel
51966-0 Genetic disease DNA analysis panel
81247-9 Master HL7 genetic variant reporting panel
74028-2 Virtual Medical Record for Clinical Decision Support panel HL7.VMR-CDS

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Valoracion de enfermedades geneticas:Código identificador:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Enfermedad genética evaluada:Identificador:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) Maladie génétique étudiée:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Malattia genetica valutata:ID:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Identificatore Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) genetische ziekte onderzocht:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Doenças genéticas avaliadas:ID:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; Gene dis assessed; Identifier; Ident; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Dis; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Генетические заболевания исследование:ID:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Genetik hastalık değerlendirilmiş:Tnmlyc:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 已评估的遗传性疾病:标识符:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 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 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 已评估（评价）的遗传性疾病（遗传疾病、遗传病、基因疾病） 所评估（所评价、已评估、已评价）的疾病（疾、病、疾患） 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 标识;身份标识符;身份标识 疾 病 症 血;血液

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=51967-8