Version 2.78

Fully-Specified Name

Component
Kallmann syndrome gene targeted mutation analysis
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Long Common Name
Kallmann syndrome gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Short Name
KMS gene Mut Anl Bld/T
Display Name
Kallmann syndrome gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Kallmann syndrome gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 1.0m
Last Updated
Version 2.73
Change Reason
Release 2.67: COMPONENT: Corrected typo; Previous Releases: 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.
Order vs. Observation
Both
Common Test Rank Get Info
9656

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen del síndrome de Kallman Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-AR Spanish (Argentina) análisis de la mutación del gen del síndrome de Kallman:presencia o identidad:punto en el tiempo:sangre entera/tejido:Nominal:genética molecular
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen del síndrome de Kallmann:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) Syndrome de Kallmann gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Sindrome di Kallmann, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene della sindrome di Kallmann Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) 칼만 증후군 유전자 돌연변이 분석:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NL Dutch (Netherlands) Kallman-syndroom gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen targeted
pt-BR Portuguese (Brazil) Sindrome Kallman análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; KMS gene; Hypogonadotropic hypogonadism and anosmia; HHA; Dysplasia olfactogenitalis of de Morsier; Anosmic hypogonadism; Adhesion molecule-like, X-linked, ADMLX, anosmin 1; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) Кальмана синдром ген исследование на мутацию:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Ген синдрома Кальмана Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Kallman sendromu geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 卡尔曼综合征基因 突变分析:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: de Morsier 发育不良嗅觉生殖器病;de Morsier 发育异常嗅觉生殖器病;De Morsier 综合征;HHA;Kallman 综合征基因;KMS;促性腺激素分泌不足性腺机能减退与嗅觉丧失症;促性腺激素分泌不足性腺机能减退与嗅觉缺失;促性腺激素分泌不足性腺机能减退与嗅觉缺失症;促性腺激素分泌不足性腺机能减退与失嗅症;卡门氏症候群基因;嗅觉、卵巢发育不良综合征;嗅觉生殖系统发育不良综合征;嗅觉缺失性性腺机能减退;粘附分子样, X 染色体连锁, ADMLX, anosmin 1;粘附分子样, X 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 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 基因突变分析 存在;存在与否;特征标识;身份;身份标识 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

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CodeSystem lookup
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