Version 2.80

Part Descriptions

LP61789-1   SGSH gene
The SGSH gene is located on 17q25.3 and encodes N-sulphoglucosamine sulphohydrolase, a lysosomal enzyme that contributes to the lysosomal degradation of heparan sulfate. A mutation in the SGSH gene is associated with mucopolysaccharidosis type IIIA (MPSIIIA), also known as Sanfilippo syndrome A. MPSIIIA is characterized by severe central nervous system degeneration, and clinical symptoms usually become apparent between ages 2 and 6, with progressive neurologic degeneration between 6 and 10 years of age and death by age 30. [OMIM: 252900] Source: Regenstrief LOINC , OMIM: 252900

LP61789-1   SGSH gene
The SGSH gene (N-sulfoglucosamine sulfohydrolase) [HGNC Gene ID:10818] is located on chromosome 17q25.3. This gene encodes one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with Sanfilippo syndrome A, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jul 2008] [NCBI Gene ID:6448] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

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

Additional Names

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

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.66 (MAJ)
Change Reason
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 SGSH στοχευμένη ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική
Synonyms: Γονίδιο Γονίδιο SGSH Εύρεση
es-ES Spanish (Spain) Gen SGSH Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen SGSH:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FR French (France) SGSH gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT Italian (Italy) SGSH, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Gene SGSH Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) SGSH-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: molgen SGSH gen targeted
pt-BR Portuguese (Brazil) SGSH análise de mutação genética:Ident:Pt:Sg/Tecido:Nar:Genética molecular
Synonyms: HSS; MPS3A; SFMD; Sulphamidase gene; Human N-sulphoglucosamine sulphohydrolase mRNA, complete cds; N-sulfoglucosamine sulfohydrolase (sulfamidase); Sulfoglucosamine sulfamidase gene; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Narrative; Report; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) SGSH 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) SGSH geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CN Chinese (China) SGSH 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: HSS;Human N-sulphoglucosamine sulphohydrolase mRNA, complete cds;MPS3A;N-sulfoglucosamine sulfohydrolase (sulfamidase);N-硫酸氨基葡糖-6-硫酸水解酶 (硫酸铵酶);N-硫酸氨基葡糖-6-硫酸水解酶 (磺酰胺酶);N-硫酸氨基葡萄糖-6-硫酸水解酶 (硫酸铵酶);N-硫酸氨基葡萄糖-6-硫酸水解酶 (磺酰胺酶);N-硫酸葡糖胺-6-硫酸水解酶 (硫酸铵酶);N-硫酸葡糖胺-6-硫酸水解酶 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 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=47971-7