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" : "mitn-default-hpo",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ValueSet mitn-default-hpo</b></p><a name=\"mitn-default-hpo\"> </a><a name=\"hcmitn-default-hpo\"> </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:0003128</td><td>Lactic acidosis</td><td>Acidose lactique</td></tr><tr><td>HP:0001263</td><td>Global developmental delay</td><td>Retard global de développement</td></tr><tr><td>HP:0001290</td><td>Generalized hypotonia</td><td>Hypotonie généralisée</td></tr><tr><td>HP:0001250</td><td>Seizures</td><td>Crise d'épilepsie</td></tr><tr><td>HP:0006965</td><td>Acute necrotizing encephalopathy</td><td>Encéphalopathie nécrosante aiguë</td></tr><tr><td>HP:0001251</td><td>Ataxia</td><td>Ataxie</td></tr><tr><td>HP:0006554</td><td>Acute hepatic failure</td><td>Insuffisance hépatique aiguë</td></tr><tr><td>HP:0006582</td><td>Reye syndrome-like episodes</td><td>Épisodes de type syndrome de Reye</td></tr><tr><td>HP:0001638</td><td>Cardiomyopathy</td><td>Cardiomyopathie</td></tr><tr><td>HP:0001488</td><td>Bilateral ptosis</td><td>Ptose bilatérale</td></tr><tr><td>HP:0000508</td><td>Ptosis</td><td>Ptose</td></tr><tr><td>HP:0001138</td><td>Optic neuropathy</td><td>Neuropathie optique</td></tr><tr><td>HP:0000590</td><td>Progressive external ophthalmoplegia</td><td>Ophtalmoplégie externe progressive</td></tr></table></li></ul></div>"
},
"url" : "http://fhir.cqgc.ferlab.bio/ValueSet/mitn-default-hpo",
"version" : "0.1.0",
"name" : "mitn-default-hpo",
"title" : "Nuclear Mitochondriopathies default clinical signs (HPO code)",
"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 Nuclear Mitochondriopathies default clinical signs (HPO code)",
"compose" : {
"include" : [
{
"system" : "http://purl.obolibrary.org/obo/hp.owl",
"concept" : [
{
"code" : "HP:0003128",
"display" : "Lactic acidosis",
"designation" : [
{
"language" : "fr",
"value" : "Acidose lactique"
}
]
},
{
"code" : "HP:0001263",
"display" : "Global developmental delay",
"designation" : [
{
"language" : "fr",
"value" : "Retard global de développement"
}
]
},
{
"code" : "HP:0001290",
"display" : "Generalized hypotonia",
"designation" : [
{
"language" : "fr",
"value" : "Hypotonie généralisée"
}
]
},
{
"code" : "HP:0001250",
"display" : "Seizures",
"designation" : [
{
"language" : "fr",
"value" : "Crise d'épilepsie"
}
]
},
{
"code" : "HP:0006965",
"display" : "Acute necrotizing encephalopathy",
"designation" : [
{
"language" : "fr",
"value" : "Encéphalopathie nécrosante aiguë"
}
]
},
{
"code" : "HP:0001251",
"display" : "Ataxia",
"designation" : [
{
"language" : "fr",
"value" : "Ataxie"
}
]
},
{
"code" : "HP:0006554",
"display" : "Acute hepatic failure",
"designation" : [
{
"language" : "fr",
"value" : "Insuffisance hépatique aiguë"
}
]
},
{
"code" : "HP:0006582",
"display" : "Reye syndrome-like episodes",
"designation" : [
{
"language" : "fr",
"value" : "Épisodes de type syndrome de Reye"
}
]
},
{
"code" : "HP:0001638",
"display" : "Cardiomyopathy",
"designation" : [
{
"language" : "fr",
"value" : "Cardiomyopathie"
}
]
},
{
"code" : "HP:0001488",
"display" : "Bilateral ptosis",
"designation" : [
{
"language" : "fr",
"value" : "Ptose bilatérale"
}
]
},
{
"code" : "HP:0000508",
"display" : "Ptosis",
"designation" : [
{
"language" : "fr",
"value" : "Ptose"
}
]
},
{
"code" : "HP:0001138",
"display" : "Optic neuropathy",
"designation" : [
{
"language" : "fr",
"value" : "Neuropathie optique"
}
]
},
{
"code" : "HP:0000590",
"display" : "Progressive external ophthalmoplegia",
"designation" : [
{
"language" : "fr",
"value" : "Ophtalmoplégie externe progressive"
}
]
}
]
}
]
}
}