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 |
<ValueSet xmlns="http://hl7.org/fhir">
<id value="bmus-abnormalities"/>
<text>
<status value="generated"/>
<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>
</text>
<url value="http://fhir.cqgc.ferlab.bio/ValueSet/bmus-abnormalities"/>
<version value="0.1.0"/>
<name value="bmus-abnormalities"/>
<title value="Muscle biopsy abnormalities"/>
<status value="active"/>
<experimental value="false"/>
<date value="2020-08-13T10:49:27-04:00"/>
<publisher value="Ferlab.bio"/>
<contact>
<name value="Cqgc"/>
<telecom>
<system value="email"/>
<value value="mailto:support@ferlab.bio"/>
</telecom>
</contact>
<description value="Category of mucle biopsy abnormalities (HPO code)"/>
<compose>
<include>
<system value="http://purl.obolibrary.org/obo/hp.owl"/>
<concept>
<code value="HP:0030089"/>
<display value="Abnormal muscle fiber protein expression"/>
<designation>
<language value="fr"/>
<value
value="Expression anormale des protéines des fibres musculaires"/>
</designation>
</concept>
<concept>
<code value="HP:0100299"/>
<display value="Muscle fiber inclusion bodies"/>
<designation>
<language value="fr"/>
<value value="Corps d'inclusion de fibres musculaires"/>
</designation>
</concept>
<concept>
<code value="HP:0012269"/>
<display value="Abnormal muscle glycogen content"/>
<designation>
<language value="fr"/>
<value value="Teneur anormale en glycogène musculaire"/>
</designation>
</concept>
<concept>
<code value="HP:0020201"/>
<display value="Abnormal sarcomere morphology"/>
<designation>
<language value="fr"/>
<value value="Morphologie anormale des sarcomères"/>
</designation>
</concept>
<concept>
<code value="HP:0033684"/>
<display value="Abnormal muscle fiber-type distribution"/>
<designation>
<language value="fr"/>
<value
value="Distribution anormale des types de fibres musculaires"/>
</designation>
</concept>
<concept>
<code value="HP:0100295"/>
<display value="Muscle fiber atrophy"/>
<designation>
<language value="fr"/>
<value value="Atrophie des fibres musculaires"/>
</designation>
</concept>
<concept>
<code value="HP:0012084"/>
<display value="Abnormality of skeletal muscle fiber size"/>
<designation>
<language value="fr"/>
<value
value="Anomalie de la taille des fibres des muscles squelettiques"/>
</designation>
</concept>
<concept>
<code value="HP:0009058"/>
<display value="Increased muscle lipid content"/>
<designation>
<language value="fr"/>
<value value="Augmentation de la teneur en lipides musculaires"/>
</designation>
</concept>
<concept>
<code value="HP:0003200"/>
<display value="Ragged-red muscle fibers"/>
<designation>
<language value="fr"/>
<value value="Fibres musculaires rouges en lambeaux"/>
</designation>
</concept>
<concept>
<code value="HP:0003687"/>
<display value="Centrally nucleated skeletal muscle fibers"/>
<designation>
<language value="fr"/>
<value
value="Fibres musculaires squelettiques à nucléation centrale"/>
</designation>
</concept>
<concept>
<code value="HP:0003736"/>
<display value="Autophagic vacuoles"/>
<designation>
<language value="fr"/>
<value value="Vacuoles autophagiques"/>
</designation>
</concept>
<concept>
<code value="HP:0003555"/>
<display value="Muscle fiber splitting"/>
<designation>
<language value="fr"/>
<value value="Fractionnement des fibres musculaires"/>
</designation>
</concept>
<concept>
<code value="HP:0003791"/>
<display value="Deposits immunoreactive to beta-amyloid protein"/>
<designation>
<language value="fr"/>
<value value="Dépôts immunoréactifs à la protéine bêta-amyloïde"/>
</designation>
</concept>
<concept>
<code value="HP:0031542"/>
<display value="Myelin-like whorls in vacuolated fibers"/>
<designation>
<language value="fr"/>
<value
value="Verticilles ressemblant à de la myéline dans des fibres vacuolées"/>
</designation>
</concept>
<concept>
<code value="HP:0100298"/>
<display value="Motheaten muscle fibers"/>
<designation>
<language value="fr"/>
<value value="Fibres musculaires mâchées"/>
</designation>
</concept>
<concept>
<code value="HP:0030362"/>
<display value="Reduced muscle carnitine level"/>
<designation>
<language value="fr"/>
<value value="Réduction du niveau de carnitine musculaire"/>
</designation>
</concept>
<concept>
<code value="HP:0003805"/>
<display value="Rimmed vacuoles"/>
<designation>
<language value="fr"/>
<value value="Vacuoles bordées"/>
</designation>
</concept>
<concept>
<code value="HP:0100293"/>
<display value="Muscle fiber hypertrophy"/>
<designation>
<language value="fr"/>
<value value="Hypertrophie des fibres musculaires"/>
</designation>
</concept>
<concept>
<code value="HP:0100297"/>
<display value="Increased endomysial connective tissue"/>
<designation>
<language value="fr"/>
<value value="Augmentation du tissu conjonctif endomysial"/>
</designation>
</concept>
<concept>
<code value="HP:0030230"/>
<display value="Central core regions in muscle fibers"/>
<designation>
<language value="fr"/>
<value value="Régions du noyau central des fibres musculaires"/>
</designation>
</concept>
<concept>
<code value="HP:0100305"/>
<display value="Ring fibers"/>
<designation>
<language value="fr"/>
<value value="Fibres annulaires"/>
</designation>
</concept>
<concept>
<code value="HP:0100296"/>
<display value="Perifascicular muscle fiber atrophy"/>
<designation>
<language value="fr"/>
<value value="Atrophie des fibres musculaires périfasciculaires"/>
</designation>
</concept>
<concept>
<code value="HP:0031238"/>
<display value="Necklace skeletal muscle fibers"/>
<designation>
<language value="fr"/>
<value value="Collier de fibres musculaires squelettiques"/>
</designation>
</concept>
<concept>
<code value="HP:0003713"/>
<display value="Muscle fiber necrosis"/>
<designation>
<language value="fr"/>
<value value="Nécrose des fibres musculaires"/>
</designation>
</concept>
</include>
</compose>
</ValueSet>