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
| Active as of 2020-08-13 |
@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
# - resource -------------------------------------------------------------------
a fhir:ValueSet ;
fhir:nodeRole fhir:treeRoot ;
fhir:id [ fhir:v "bmus-abnormalities"] ; #
fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ValueSet bmus-abnormalities</b></p><a name=\"bmus-abnormalities\"> </a><a name=\"hcbmus-abnormalities\"> </a><ul><li>Include these codes as defined in <code>http://purl.obolibrary.org/obo/hp.owl</code><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td><td><b>French (fr)</b></td></tr><tr><td>HP:0030089</td><td>Abnormal muscle fiber protein expression</td><td>Expression anormale des protéines des fibres musculaires</td></tr><tr><td>HP:0100299</td><td>Muscle fiber inclusion bodies</td><td>Corps d'inclusion de fibres musculaires</td></tr><tr><td>HP:0012269</td><td>Abnormal muscle glycogen content</td><td>Teneur anormale en glycogène musculaire</td></tr><tr><td>HP:0020201</td><td>Abnormal sarcomere morphology</td><td>Morphologie anormale des sarcomères</td></tr><tr><td>HP:0033684</td><td>Abnormal muscle fiber-type distribution</td><td>Distribution anormale des types de fibres musculaires</td></tr><tr><td>HP:0100295</td><td>Muscle fiber atrophy</td><td>Atrophie des fibres musculaires</td></tr><tr><td>HP:0012084</td><td>Abnormality of skeletal muscle fiber size</td><td>Anomalie de la taille des fibres des muscles squelettiques</td></tr><tr><td>HP:0009058</td><td>Increased muscle lipid content</td><td>Augmentation de la teneur en lipides musculaires</td></tr><tr><td>HP:0003200</td><td>Ragged-red muscle fibers</td><td>Fibres musculaires rouges en lambeaux</td></tr><tr><td>HP:0003687</td><td>Centrally nucleated skeletal muscle fibers</td><td>Fibres musculaires squelettiques à nucléation centrale</td></tr><tr><td>HP:0003736</td><td>Autophagic vacuoles</td><td>Vacuoles autophagiques</td></tr><tr><td>HP:0003555</td><td>Muscle fiber splitting</td><td>Fractionnement des fibres musculaires</td></tr><tr><td>HP:0003791</td><td>Deposits immunoreactive to beta-amyloid protein</td><td>Dépôts immunoréactifs à la protéine bêta-amyloïde</td></tr><tr><td>HP:0031542</td><td>Myelin-like whorls in vacuolated fibers</td><td>Verticilles ressemblant à de la myéline dans des fibres vacuolées</td></tr><tr><td>HP:0100298</td><td>Motheaten muscle fibers</td><td>Fibres musculaires mâchées</td></tr><tr><td>HP:0030362</td><td>Reduced muscle carnitine level</td><td>Réduction du niveau de carnitine musculaire</td></tr><tr><td>HP:0003805</td><td>Rimmed vacuoles</td><td>Vacuoles bordées</td></tr><tr><td>HP:0100293</td><td>Muscle fiber hypertrophy</td><td>Hypertrophie des fibres musculaires</td></tr><tr><td>HP:0100297</td><td>Increased endomysial connective tissue</td><td>Augmentation du tissu conjonctif endomysial</td></tr><tr><td>HP:0030230</td><td>Central core regions in muscle fibers</td><td>Régions du noyau central des fibres musculaires</td></tr><tr><td>HP:0100305</td><td>Ring fibers</td><td>Fibres annulaires</td></tr><tr><td>HP:0100296</td><td>Perifascicular muscle fiber atrophy</td><td>Atrophie des fibres musculaires périfasciculaires</td></tr><tr><td>HP:0031238</td><td>Necklace skeletal muscle fibers</td><td>Collier de fibres musculaires squelettiques</td></tr><tr><td>HP:0003713</td><td>Muscle fiber necrosis</td><td>Nécrose des fibres musculaires</td></tr></table></li></ul></div>"^^rdf:XMLLiteral
] ; #
fhir:url [ fhir:v "http://fhir.cqgc.ferlab.bio/ValueSet/bmus-abnormalities"^^xsd:anyURI] ; #
fhir:version [ fhir:v "0.1.0"] ; #
fhir:name [ fhir:v "bmus-abnormalities"] ; #
fhir:title [ fhir:v "Muscle biopsy abnormalities"] ; #
fhir:status [ fhir:v "active"] ; #
fhir:experimental [ fhir:v false] ; #
fhir:date [ fhir:v "2020-08-13T10:49:27-04:00"^^xsd:dateTime] ; #
fhir:publisher [ fhir:v "Ferlab.bio"] ; #
fhir:contact ( [
fhir:name [ fhir:v "Cqgc" ] ;
( fhir:telecom [
fhir:system [ fhir:v "email" ] ;
fhir:value [ fhir:v "mailto:support@ferlab.bio" ] ] )
] ) ; #
fhir:description [ fhir:v "Category of mucle biopsy abnormalities (HPO code)"] ; #
fhir:compose [
( fhir:include [
fhir:system [ fhir:v "http://purl.obolibrary.org/obo/hp.owl"^^xsd:anyURI ] ;
( fhir:concept [
fhir:code [ fhir:v "HP:0030089" ] ;
fhir:display [ fhir:v "Abnormal muscle fiber protein expression" ] ;
( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Expression anormale des protéines des fibres musculaires" ] ] ) ] [
fhir:code [ fhir:v "HP:0100299" ] ;
fhir:display [ fhir:v "Muscle fiber inclusion bodies" ] ;
( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Corps d'inclusion de fibres musculaires" ] ] ) ] [
fhir:code [ fhir:v "HP:0012269" ] ;
fhir:display [ fhir:v "Abnormal muscle glycogen content" ] ;
( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Teneur anormale en glycogène musculaire" ] ] ) ] [
fhir:code [ fhir:v "HP:0020201" ] ;
fhir:display [ fhir:v "Abnormal sarcomere morphology" ] ;
( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Morphologie anormale des sarcomères" ] ] ) ] [
fhir:code [ fhir:v "HP:0033684" ] ;
fhir:display [ fhir:v "Abnormal muscle fiber-type distribution" ] ;
( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Distribution anormale des types de fibres musculaires" ] ] ) ] [
fhir:code [ fhir:v "HP:0100295" ] ;
fhir:display [ fhir:v "Muscle fiber atrophy" ] ;
( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Atrophie des fibres musculaires" ] ] ) ] [
fhir:code [ fhir:v "HP:0012084" ] ;
fhir:display [ fhir:v "Abnormality of skeletal muscle fiber size" ] ;
( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Anomalie de la taille des fibres des muscles squelettiques" ] ] ) ] [
fhir:code [ fhir:v "HP:0009058" ] ;
fhir:display [ fhir:v "Increased muscle lipid content" ] ;
( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Augmentation de la teneur en lipides musculaires" ] ] ) ] [
fhir:code [ fhir:v "HP:0003200" ] ;
fhir:display [ fhir:v "Ragged-red muscle fibers" ] ;
( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Fibres musculaires rouges en lambeaux" ] ] ) ] [
fhir:code [ fhir:v "HP:0003687" ] ;
fhir:display [ fhir:v "Centrally nucleated skeletal muscle fibers" ] ;
( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Fibres musculaires squelettiques à nucléation centrale" ] ] ) ] [
fhir:code [ fhir:v "HP:0003736" ] ;
fhir:display [ fhir:v "Autophagic vacuoles" ] ;
( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Vacuoles autophagiques" ] ] ) ] [
fhir:code [ fhir:v "HP:0003555" ] ;
fhir:display [ fhir:v "Muscle fiber splitting" ] ;
( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Fractionnement des fibres musculaires" ] ] ) ] [
fhir:code [ fhir:v "HP:0003791" ] ;
fhir:display [ fhir:v "Deposits immunoreactive to beta-amyloid protein" ] ;
( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Dépôts immunoréactifs à la protéine bêta-amyloïde" ] ] ) ] [
fhir:code [ fhir:v "HP:0031542" ] ;
fhir:display [ fhir:v "Myelin-like whorls in vacuolated fibers" ] ;
( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Verticilles ressemblant à de la myéline dans des fibres vacuolées" ] ] ) ] [
fhir:code [ fhir:v "HP:0100298" ] ;
fhir:display [ fhir:v "Motheaten muscle fibers" ] ;
( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Fibres musculaires mâchées" ] ] ) ] [
fhir:code [ fhir:v "HP:0030362" ] ;
fhir:display [ fhir:v "Reduced muscle carnitine level" ] ;
( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Réduction du niveau de carnitine musculaire" ] ] ) ] [
fhir:code [ fhir:v "HP:0003805" ] ;
fhir:display [ fhir:v "Rimmed vacuoles" ] ;
( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Vacuoles bordées" ] ] ) ] [
fhir:code [ fhir:v "HP:0100293" ] ;
fhir:display [ fhir:v "Muscle fiber hypertrophy" ] ;
( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Hypertrophie des fibres musculaires" ] ] ) ] [
fhir:code [ fhir:v "HP:0100297" ] ;
fhir:display [ fhir:v "Increased endomysial connective tissue" ] ;
( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Augmentation du tissu conjonctif endomysial" ] ] ) ] [
fhir:code [ fhir:v "HP:0030230" ] ;
fhir:display [ fhir:v "Central core regions in muscle fibers" ] ;
( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Régions du noyau central des fibres musculaires" ] ] ) ] [
fhir:code [ fhir:v "HP:0100305" ] ;
fhir:display [ fhir:v "Ring fibers" ] ;
( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Fibres annulaires" ] ] ) ] [
fhir:code [ fhir:v "HP:0100296" ] ;
fhir:display [ fhir:v "Perifascicular muscle fiber atrophy" ] ;
( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Atrophie des fibres musculaires périfasciculaires" ] ] ) ] [
fhir:code [ fhir:v "HP:0031238" ] ;
fhir:display [ fhir:v "Necklace skeletal muscle fibers" ] ;
( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Collier de fibres musculaires squelettiques" ] ] ) ] [
fhir:code [ fhir:v "HP:0003713" ] ;
fhir:display [ fhir:v "Muscle fiber necrosis" ] ;
( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Nécrose des fibres musculaires" ] ] ) ] ) ] )
] . #
IG © 2020+ Ferlab.bio. Package cqgc#0.1.0 based on FHIR 4.0.1. Generated 2025-08-25
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