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Part Description

LP111174-1   Lysosomal disorders
Lysosomal storage diseases (LSDs) are a group of approximately 40 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomal storage diseases result when a specific organelle in the body's cells - the lysosome - malfunctions.

Tay-Sachs disease was the first of these disorders to be described, followed by Gaucher disease.

Lysosomal storage disorders are caused by lysosomal dysfunction usually as a consequence of deficiency of a single enzyme required for the metabolism of lipids, glycoproteins (sugar containing proteins) or so-called mucopolysaccharides. Individually, LSDs occur with incidences of less than 1:100.000, however, as a group the incidence is about 1:5000 - 1:10.000. Most of these disorders are autosomal recessively inherited, however a few are X-linked recessively inherited, such as Fabry disease and Hunter syndrome (MPS II). 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, Wikipedia

LOINC Names Get Info

Fully-Specified Name
Lysosomal disorders:Imp:Pt:Bld.dot:Nom:
Long Common Name
Lysosomal disorders newborn screen interpretation
Short Name
LD DBS-Imp
Display Name
Lysosomal disorders (DBS) [Interp]
Consumer Name Alpha Get Info
Lysosomal disorders, Dried blood spot

Part Model Get Info

  • Component
    Lysosomal disorders
    LP111174-1
    • Analyte
      Lysosomal disorders
      LP111174-1
      • Component Numerator
        Lysosomal disorders
        LP111174-1
        • Component Numerator Core
          Lysosomal disorders
          LP111174-1
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Imp
    LP6819-9
  • Time
    Pt
    LP6960-1
  • System
    Bld.dot
    LP21304-8
    • System Core
      Bld.dot
      LP21304-8
    • Super System
      NULL
       
  • Scale
    Nom
    LP7750-5
  • Method
    NULL
     

Preferred Answer List: LL6931-1

AnswerCodeScoreAnswer ID
BorderlineLA4259-3
IndeterminateCopyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value)LA11884-6
One or more tests pendingLA16204-2
Screen NegativeLA34518-3
Screen PositiveLA34519-1
Specimen unacceptable for at least one conditionLA34520-9
InconclusiveCopyright http://snomed.info/sct ID:419984006 Inconclusive (qualifier value)LA9663-1
Not testedLA13538-6

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.83 (NAM)
Change Reason
Release 2.81: AnswerListId: APHL change request; Previous Releases: Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Order vs. Observation
Observation

Member of these Panels

LOINCLong Common Name
105458-4Lysosomal and peroxisomal storage disorders panel - DBS
62300-9Lysosomal disorders newborn screening panel
54089-8Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Lysozomální střádavá onemocnění:Interpretace:Časový bod:Suchá krevní kapka (DBS):Nominální:
el-GRGreek (Greece)Διαταραχές λυσοσωμικής αποθήκευσης:Imp:Pt:Bld.dot:Nom:
Synonyms: Bld.dot CHEM Imp Nom Pt Αίμα Διαταραχές λυσοσωμικής αποθήκευσης
es-ESSpanish (Spain)Trastornos de almacenamiento lisosomal:Impresión/interpretación del estudio:Punto temporal:gota de sangre (papel de filtro):Nom:
es-MXSpanish (Mexico)Trastornos por almacenamiento lisosómico:Impresión / interpretación del estudio:Punto temporal:DBS:Nominal:
fr-FRFrench (France)Maladies lysosomales:Interprétation:Ponctuel:Sang buvard:Résultat nominal:
fr-BEFrench (Belgium)Lysosomes.Maladie stockage.:Impression/interprétation d'étude:Temps ponctuel:Sang sur papier filtre:Nominal:
it-ITItalian (Italy)Disturbo da accumulo lisosomiale:Imp:Pt:Sangue.su carta da filtro:Nom:
Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NLDutch (Netherlands)lysosomale stapelingsziekte:interpretatie:moment:gedroogde bloedspot:nominaal:
ru-RURussian (Russian Federation)Лизосомальные болезни накопления:Впчт:ТчкВрм:Кр.Сух.капл:Ном:
Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный;Именной Точка во времени;Момент
tr-TRTurkish (Turkey)Lizozomal depo bozukluğu:İzlnm:Zmlı:Kan.nokta:Snf:
zh-CNChinese (China)溶酶体贮积症:印象:时间点:全血.斑点:名义型:
Synonyms: 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 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 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 时刻;随机;随意;瞬间 溶酶体累积病;lysosomal storage diseases;溶酶体贮积病;溶酶体储积疾病;Lysosomal storage disorders 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=62301-7