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