Version 2.78

Part Descriptions

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

LP63613-1   Microdeletion syndromes
Microdeletions are missing pieces of DNA that are beyond the resolution of routine cytogenetic techniques. Specific microdeletions are diagnostic of several clinical syndromes. Examples are Cri-du-chat, DiGeorge/Velocardiofacial syndrome, Kallman syndrome, Miller-Dieker syndrome, Prader-Willi syndrome (PWS), Smith-Magenis syndrome, Steroid sulfatase deficiency (x-linked Ichthyosis), Williams syndrome, Wolf-Hirschhorn syndrome, and Y Chromosome microdeletions. Source: Regenstrief Institute

Fully-Specified Name

Component
Microdeletion syndromes
Property
Arb
Time
Pt
System
XXX
Scale
Nom
Method
FISH

Additional Names

Short Name
Microdeletion synd Spec FISH
Display Name
Microdel syndromes FISH Nom (Specimen)
Consumer Name Alpha Get Info
Microdel syndromes, Specimen

Basic Attributes

Class
MOLPATH.DEL
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.69
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Síndromes por microdeleción:Arbitrario:Punto temporal:XXX:Nom:Hibridación in situ fluoresente (FISH)
es-MX Spanish (Mexico) Síndromes de microdeleción:Arbitrario:Punto temporal:XXX:Nominal:Hibridación fluorescente in situ (FISH)
et-EE Estonian (Estonia) Mikrodeletsioonisündroomid:Arb:Pt:XXX:Nom:FISH
Synonyms: Juhuslik Täpsustamata materjal
fr-FR French (France) Syndromes de microdélétion:Arbitraire:Ponctuel:Milieux divers:Résultat nominal:FISH
it-IT Italian (Italy) Microdelezioni, sindromi:Arb:Pt:XXX:Nom:FISH
Synonyms: Arbitrario Delezione genetica Ibridazione in situ fluorescente (FISH) Patologia molecolare Punto nel tempo (episodio) Sindromi da microdelezioni
nl-NL Dutch (Netherlands) microdeletie syndromen:aanwezigheid:moment:XXX:nominaal:FISH
pt-BR Portuguese (Brazil) Sindromes de microdelação:Arb:Pt:XXX:Nom:FISH (hibridização in situ fluorescente)
Synonyms: ; Microdeletion synd; Arbitrary; Point in time; Random; Misc; Miscellaneous; Unspecified; Other; Nominal; Fluorescent in situ hybridization; MOLPATH.DELETIONS; MOLPATH.DELETIONS; Molecular pathology
tr-TR Turkish (Turkey) Mikrodelesyon sendromları:Sç:Zmlı:XXX:Snf:FISH
zh-CN Chinese (China) 微缺失综合征:任意型:时间点:XXX:名义型:FISH
Synonyms: Fluorescent in situ hybridization;荧光原位杂交 不明的;其他;将在相应消息内其他部分之中加以详细说明;未作详细说明的;未作说明的;未做说明的标本;未加规定的;未加说明的标本;杂项 任意;任意的;人工型 分子病理学.基因缺失;分子病理学.缺失;分子病理学试验.基因缺失;分子病理学试验.缺失;分子病理学试验类.缺失;基因缺失;缺失 分子病理学;分子病理学试验 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 微缺失（微缺失、微细缺失、微缺、微缺损、微删除、微丢失）综合征;Microdeletion syndromes 时刻;随机;随意;瞬间

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=49063-1