Cqgc Implementation Guide
0.1.0 - CI Build

Cqgc Implementation Guide - Local Development build (v0.1.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

ValueSet: Ferlab.bio ValueSet/bmus-abnormalities

Official URL: http://fhir.cqgc.ferlab.bio/ValueSet/bmus-abnormalities Version: 0.1.0
Active as of 2020-08-13 Computable Name: bmus-abnormalities

Category of mucle biopsy abnormalities (HPO code)

References

This value set is not used here; it may be used elsewhere (e.g. specifications and/or implementations that use this content)

Logical Definition (CLD)

  • Include these codes as defined in http://purl.obolibrary.org/obo/hp.owl
    CodeDisplayFrench (fr)
    HP:0030089Abnormal muscle fiber protein expressionExpression anormale des protéines des fibres musculaires
    HP:0100299Muscle fiber inclusion bodiesCorps d'inclusion de fibres musculaires
    HP:0012269Abnormal muscle glycogen contentTeneur anormale en glycogène musculaire
    HP:0020201Abnormal sarcomere morphologyMorphologie anormale des sarcomères
    HP:0033684Abnormal muscle fiber-type distributionDistribution anormale des types de fibres musculaires
    HP:0100295Muscle fiber atrophyAtrophie des fibres musculaires
    HP:0012084Abnormality of skeletal muscle fiber sizeAnomalie de la taille des fibres des muscles squelettiques
    HP:0009058Increased muscle lipid contentAugmentation de la teneur en lipides musculaires
    HP:0003200Ragged-red muscle fibersFibres musculaires rouges en lambeaux
    HP:0003687Centrally nucleated skeletal muscle fibersFibres musculaires squelettiques à nucléation centrale
    HP:0003736Autophagic vacuolesVacuoles autophagiques
    HP:0003555Muscle fiber splittingFractionnement des fibres musculaires
    HP:0003791Deposits immunoreactive to beta-amyloid proteinDépôts immunoréactifs à la protéine bêta-amyloïde
    HP:0031542Myelin-like whorls in vacuolated fibersVerticilles ressemblant à de la myéline dans des fibres vacuolées
    HP:0100298Motheaten muscle fibersFibres musculaires mâchées
    HP:0030362Reduced muscle carnitine levelRéduction du niveau de carnitine musculaire
    HP:0003805Rimmed vacuolesVacuoles bordées
    HP:0100293Muscle fiber hypertrophyHypertrophie des fibres musculaires
    HP:0100297Increased endomysial connective tissueAugmentation du tissu conjonctif endomysial
    HP:0030230Central core regions in muscle fibersRégions du noyau central des fibres musculaires
    HP:0100305Ring fibersFibres annulaires
    HP:0100296Perifascicular muscle fiber atrophyAtrophie des fibres musculaires périfasciculaires
    HP:0031238Necklace skeletal muscle fibersCollier de fibres musculaires squelettiques
    HP:0003713Muscle fiber necrosisNécrose des fibres musculaires

 

Expansion

Expansion from tx.ontoserver.csiro.au based on codesystem hp.owl version20221005

This value set contains 24 concepts

CodeSystemDisplay (en-US)
  HP:0030089http://purl.obolibrary.org/obo/hp.owlAbnormal muscle fiber protein expression
  HP:0100299http://purl.obolibrary.org/obo/hp.owlMuscle fiber inclusion bodies
  HP:0012269http://purl.obolibrary.org/obo/hp.owlAbnormal muscle glycogen content
  HP:0020201http://purl.obolibrary.org/obo/hp.owlAbnormal sarcomere morphology
  HP:0033684http://purl.obolibrary.org/obo/hp.owlAbnormal muscle fiber-type distribution
  HP:0100295http://purl.obolibrary.org/obo/hp.owlMuscle fiber atrophy
  HP:0012084http://purl.obolibrary.org/obo/hp.owlAbnormality of skeletal muscle fiber size
  HP:0009058http://purl.obolibrary.org/obo/hp.owlIncreased muscle lipid content
  HP:0003200http://purl.obolibrary.org/obo/hp.owlRagged-red muscle fibers
  HP:0003687http://purl.obolibrary.org/obo/hp.owlCentrally nucleated skeletal muscle fibers
  HP:0003736http://purl.obolibrary.org/obo/hp.owlAutophagic vacuoles
  HP:0003555http://purl.obolibrary.org/obo/hp.owlMuscle fiber splitting
  HP:0003791http://purl.obolibrary.org/obo/hp.owlDeposits immunoreactive to beta-amyloid protein
  HP:0031542http://purl.obolibrary.org/obo/hp.owlMyelin-like whorls in vacuolated fibers
  HP:0100298http://purl.obolibrary.org/obo/hp.owlMotheaten muscle fibers
  HP:0030362http://purl.obolibrary.org/obo/hp.owlReduced muscle carnitine level
  HP:0003805http://purl.obolibrary.org/obo/hp.owlRimmed vacuoles
  HP:0100293http://purl.obolibrary.org/obo/hp.owlHypertrophied muscle fibers
  HP:0100297http://purl.obolibrary.org/obo/hp.owlIncreased endomysial connective tissue
  HP:0030230http://purl.obolibrary.org/obo/hp.owlCentral core regions in muscle fibers
  HP:0100305http://purl.obolibrary.org/obo/hp.owlRing fibers
  HP:0100296http://purl.obolibrary.org/obo/hp.owlPerifascicular muscle fiber atrophy
  HP:0031238http://purl.obolibrary.org/obo/hp.owlNecklace skeletal muscle fibers
  HP:0003713http://purl.obolibrary.org/obo/hp.owlMuscle fiber necrosis

Explanation of the columns that may appear on this page:

Level A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies
System The source of the definition of the code (when the value set draws in codes defined elsewhere)
Code The code (used as the code in the resource instance)
Display The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application
Definition An explanation of the meaning of the concept
Comments Additional notes about how to use the code