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LOINC Names Get Info

Fully-Specified Name
Spinal muscular atrophy associated mutation:Prid:Pt:Bld/Tiss:Nom:Molgen
Long Common Name
Spinal muscular atrophy associated mutation [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Short Name
SMA associated mutation Bld/T
Display Name
Spinal muscular atrophy associated mutation Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Spinal muscular atrophy associated mutation, Blood or tissue specimen

Part Model Get Info

  • Component
    Spinal muscular atrophy associated mutation
    LP288641-6
    • Analyte
      Spinal muscular atrophy associated mutation
      LP288641-6
      • Component Numerator
        Spinal muscular atrophy associated mutation
        LP288641-6
        • Component Numerator Core
          Spinal muscular atrophy associated mutation
          LP288641-6
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Prid
    LP6850-4
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Nom
    LP7750-5
  • Method
    Molgen
    LP6404-0

Example Answer List: LL7186-1

AnswerCodeScoreAnswer ID
DetectedLA11882-0
Not detectedLA11883-8

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.83
Last Updated
Version 2.83 (ADD)
Order vs. Observation
Both

Formula (Readable)

If SMN1 is 2 AND the SMN1 SNP is not detected, or SMN1 is 3, >=3 or >=4 then DNR SMN2 Copy number in Gene result. IF SMN1 is 0, 1, or 2 AND the SMN1 SNP is detected, or SMN1 >=2 AND SNP is detected then report SMN2 copy number in Gene results

Language Variants Get Info

TagLanguageTranslation
el-GRGreek (Greece)Νωτιαία μυϊκή ατροφία:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MOLPATH Nom Prid Pt Αίμα Αίμα/Ιστός Ιστός Μοριακή γενετική Νωτιαία μυϊκή ατροφία
es-ESSpanish (Spain)Atrofia muscular en la columna:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FRFrench (France)Atrophie musculaire spinale:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)Atrofia muscolare spinale:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto SMA Tessuto & Strisci
zh-CNChinese (China)脊髓性肌萎缩: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: 全血或组织;血液/组织;血液或组织 关联的 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 存在;存在与否;特征标识;身份;身份标识 时刻;随机;随意;瞬间 有联系的 未作说明的组织;组织;组织 & 涂片 相关的 脊髓性肌肉萎缩症;脊髓性肌萎缩症;脊髓肌肉萎缩症 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=115593-6