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 2025-08-25 |
{
"resourceType" : "CodeSystem",
"id" : "observation-code",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: CodeSystem observation-code</b></p><a name=\"observation-code\"> </a><a name=\"hcobservation-code\"> </a><p>This case-sensitive code system <code>http://fhir.cqgc.ferlab.bio/CodeSystem/observation-code</code> defines the following codes:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td><td><b>French (fr)</b></td></tr><tr><td style=\"white-space:nowrap\">OBSG<a name=\"observation-code-OBSG\"> </a></td><td>General Observation</td><td>Observation générale</td></tr><tr><td style=\"white-space:nowrap\">INDIC<a name=\"observation-code-INDIC\"> </a></td><td>Indication</td><td>Indication</td></tr><tr><td style=\"white-space:nowrap\">INVES<a name=\"observation-code-INVES\"> </a></td><td>Investigation</td><td>Investigation</td></tr><tr><td style=\"white-space:nowrap\">BMUS<a name=\"observation-code-BMUS\"> </a></td><td>Muscle Biopsy</td><td>Biopsie musculaire</td></tr><tr><td style=\"white-space:nowrap\">BMET<a name=\"observation-code-BMET\"> </a></td><td>Metabolic Work-Up</td><td>Bilan métabolique</td></tr><tr><td style=\"white-space:nowrap\">CKIN<a name=\"observation-code-CKIN\"> </a></td><td>Serum Creatine Kinase</td><td>Créatine kinase sérique</td></tr><tr><td style=\"white-space:nowrap\">CAAP<a name=\"observation-code-CAAP\"> </a></td><td>Plasma Amino Acid Chromatography</td><td>Chromatographie acides aminés plasmatiques</td></tr><tr><td style=\"white-space:nowrap\">ACYL<a name=\"observation-code-ACYL\"> </a></td><td>Acylcarnitines</td><td>Acylcarnitines</td></tr><tr><td style=\"white-space:nowrap\">IRMC<a name=\"observation-code-IRMC\"> </a></td><td>Cerebral MRI</td><td>IRM cérébrale</td></tr><tr><td style=\"white-space:nowrap\">IRMM<a name=\"observation-code-IRMM\"> </a></td><td>Muscle MRI</td><td>IRM musculaire</td></tr><tr><td style=\"white-space:nowrap\">SRMN<a name=\"observation-code-SRMN\"> </a></td><td>NMR Spectroscopy</td><td>Spectroscopie RMN</td></tr><tr><td style=\"white-space:nowrap\">ECAR<a name=\"observation-code-ECAR\"> </a></td><td>Cardiac Ultrasound</td><td>Échographie cardiaque</td></tr><tr><td style=\"white-space:nowrap\">EABD<a name=\"observation-code-EABD\"> </a></td><td>Abdominal Ultrasound</td><td>Échographie abdominale</td></tr><tr><td style=\"white-space:nowrap\">EEG<a name=\"observation-code-EEG\"> </a></td><td>Electroencephalogram (EEG)</td><td>Électroencéphalogramme (EEG)</td></tr><tr><td style=\"white-space:nowrap\">EMG<a name=\"observation-code-EMG\"> </a></td><td>Electromyography (EMG)</td><td>Electromyographie (EMG)</td></tr><tr><td style=\"white-space:nowrap\">OPHT<a name=\"observation-code-OPHT\"> </a></td><td>Ophthalmological Examination</td><td>Examen ophtalmologique</td></tr><tr><td style=\"white-space:nowrap\">CONS<a name=\"observation-code-CONS\"> </a></td><td>Consanguinity</td><td>Consanguinité</td></tr><tr><td style=\"white-space:nowrap\">DSTA<a name=\"observation-code-DSTA\"> </a></td><td>Patient Disease Status</td><td>Statut de la maladie du patient</td></tr><tr><td style=\"white-space:nowrap\">CTGR<a name=\"observation-code-CTGR\"> </a></td><td>CTG Repeat Testing (Steinert Disease)</td><td>Test répétitions CTG (maladie de Steinert)</td></tr><tr><td style=\"white-space:nowrap\">GCNR<a name=\"observation-code-GCNR\"> </a></td><td>GCN Repeat Testing (Oculopharyngeal Muscular Dystrophy)</td><td>Test répétitions GCN (dystrophie musculaire oculopharyngée)</td></tr><tr><td style=\"white-space:nowrap\">TGDD<a name=\"observation-code-TGDD\"> </a></td><td>Deletions and Duplications Testing (Duchenne and Becker Dystrophies)</td><td>Test délétions et duplication (dystrophies Duchenne et Becker)</td></tr><tr><td style=\"white-space:nowrap\">CGH<a name=\"observation-code-CGH\"> </a></td><td>Comparative Genomic Hybridization</td><td>Hybridation génomique comparative</td></tr><tr><td style=\"white-space:nowrap\">TSXF<a name=\"observation-code-TSXF\"> </a></td><td>Fragile X Syndrome Testing</td><td>Test syndrome de X fragile</td></tr><tr><td style=\"white-space:nowrap\">MMTH<a name=\"observation-code-MMTH\"> </a></td><td>Missing Mother</td><td>Mère manquante</td></tr><tr><td style=\"white-space:nowrap\">MFTH<a name=\"observation-code-MFTH\"> </a></td><td>Missing Father</td><td>Père manquant</td></tr><tr><td style=\"white-space:nowrap\">ETHN<a name=\"observation-code-ETHN\"> </a></td><td>Ethnicity</td><td>Ethnicité</td></tr><tr><td style=\"white-space:nowrap\">PHEN<a name=\"observation-code-PHEN\"> </a></td><td>Clinical Sign (HPO)</td><td>Signe clinique (HPO)</td></tr><tr><td style=\"white-space:nowrap\">CNVPG<a name=\"observation-code-CNVPG\"> </a></td><td>Genomic CNV analysis</td><td>Analyse CNV pan-génomique</td></tr><tr><td style=\"white-space:nowrap\">QFPCR<a name=\"observation-code-QFPCR\"> </a></td><td>Rapid detection of fetal aneuploidies (QF-PCR)</td><td>Détection rapide des aneuploïdies (QF-PCR)</td></tr><tr><td style=\"white-space:nowrap\">LPWGS<a name=\"observation-code-LPWGS\"> </a></td><td>CNV (Microarray/LP-WGS)</td><td>CNV (micropuce/LP-WGS)</td></tr><tr><td style=\"white-space:nowrap\">PG<a name=\"observation-code-PG\"> </a></td><td>Gene Panel</td><td>Panel de gènes</td></tr><tr><td style=\"white-space:nowrap\">LP<a name=\"observation-code-LP\"> </a></td><td>Lymphocyte Phenotyping</td><td>Phénotypage lymphocytaire</td></tr></table></div>"
},
"url" : "http://fhir.cqgc.ferlab.bio/CodeSystem/observation-code",
"version" : "0.1.0",
"name" : "observation-code",
"title" : "Observation codes",
"status" : "active",
"experimental" : false,
"date" : "2025-08-25T15:12:45+00:00",
"publisher" : "Ferlab.bio",
"contact" : [
{
"name" : "Cqgc",
"telecom" : [
{
"system" : "email",
"value" : "mailto:support@ferlab.bio"
}
]
}
],
"description" : "Codes of observations in our system",
"caseSensitive" : true,
"content" : "complete",
"concept" : [
{
"code" : "OBSG",
"display" : "General Observation",
"designation" : [
{
"language" : "fr",
"value" : "Observation générale"
}
]
},
{
"code" : "INDIC",
"display" : "Indication",
"designation" : [
{
"language" : "fr",
"value" : "Indication"
}
]
},
{
"code" : "INVES",
"display" : "Investigation",
"designation" : [
{
"language" : "fr",
"value" : "Investigation"
}
]
},
{
"code" : "BMUS",
"display" : "Muscle Biopsy",
"designation" : [
{
"language" : "fr",
"value" : "Biopsie musculaire"
}
]
},
{
"code" : "BMET",
"display" : "Metabolic Work-Up",
"designation" : [
{
"language" : "fr",
"value" : "Bilan métabolique"
}
]
},
{
"code" : "CKIN",
"display" : "Serum Creatine Kinase",
"designation" : [
{
"language" : "fr",
"value" : "Créatine kinase sérique"
}
]
},
{
"code" : "CAAP",
"display" : "Plasma Amino Acid Chromatography",
"designation" : [
{
"language" : "fr",
"value" : "Chromatographie acides aminés plasmatiques"
}
]
},
{
"code" : "ACYL",
"display" : "Acylcarnitines",
"designation" : [
{
"language" : "fr",
"value" : "Acylcarnitines"
}
]
},
{
"code" : "IRMC",
"display" : "Cerebral MRI",
"designation" : [
{
"language" : "fr",
"value" : "IRM cérébrale"
}
]
},
{
"code" : "IRMM",
"display" : "Muscle MRI",
"designation" : [
{
"language" : "fr",
"value" : "IRM musculaire"
}
]
},
{
"code" : "SRMN",
"display" : "NMR Spectroscopy",
"designation" : [
{
"language" : "fr",
"value" : "Spectroscopie RMN"
}
]
},
{
"code" : "ECAR",
"display" : "Cardiac Ultrasound",
"designation" : [
{
"language" : "fr",
"value" : "Échographie cardiaque"
}
]
},
{
"code" : "EABD",
"display" : "Abdominal Ultrasound",
"designation" : [
{
"language" : "fr",
"value" : "Échographie abdominale"
}
]
},
{
"code" : "EEG",
"display" : "Electroencephalogram (EEG)",
"designation" : [
{
"language" : "fr",
"value" : "Électroencéphalogramme (EEG)"
}
]
},
{
"code" : "EMG",
"display" : "Electromyography (EMG)",
"designation" : [
{
"language" : "fr",
"value" : "Electromyographie (EMG)"
}
]
},
{
"code" : "OPHT",
"display" : "Ophthalmological Examination",
"designation" : [
{
"language" : "fr",
"value" : "Examen ophtalmologique"
}
]
},
{
"code" : "CONS",
"display" : "Consanguinity",
"designation" : [
{
"language" : "fr",
"value" : "Consanguinité"
}
]
},
{
"code" : "DSTA",
"display" : "Patient Disease Status",
"designation" : [
{
"language" : "fr",
"value" : "Statut de la maladie du patient"
}
]
},
{
"code" : "CTGR",
"display" : "CTG Repeat Testing (Steinert Disease)",
"designation" : [
{
"language" : "fr",
"value" : "Test répétitions CTG (maladie de Steinert)"
}
]
},
{
"code" : "GCNR",
"display" : "GCN Repeat Testing (Oculopharyngeal Muscular Dystrophy)",
"designation" : [
{
"language" : "fr",
"value" : "Test répétitions GCN (dystrophie musculaire oculopharyngée)"
}
]
},
{
"code" : "TGDD",
"display" : "Deletions and Duplications Testing (Duchenne and Becker Dystrophies)",
"designation" : [
{
"language" : "fr",
"value" : "Test délétions et duplication (dystrophies Duchenne et Becker)"
}
]
},
{
"code" : "CGH",
"display" : "Comparative Genomic Hybridization",
"designation" : [
{
"language" : "fr",
"value" : "Hybridation génomique comparative"
}
]
},
{
"code" : "TSXF",
"display" : "Fragile X Syndrome Testing",
"designation" : [
{
"language" : "fr",
"value" : "Test syndrome de X fragile"
}
]
},
{
"code" : "MMTH",
"display" : "Missing Mother",
"designation" : [
{
"language" : "fr",
"value" : "Mère manquante"
}
]
},
{
"code" : "MFTH",
"display" : "Missing Father",
"designation" : [
{
"language" : "fr",
"value" : "Père manquant"
}
]
},
{
"code" : "ETHN",
"display" : "Ethnicity",
"designation" : [
{
"language" : "fr",
"value" : "Ethnicité"
}
]
},
{
"code" : "PHEN",
"display" : "Clinical Sign (HPO)",
"designation" : [
{
"language" : "fr",
"value" : "Signe clinique (HPO)"
}
]
},
{
"code" : "CNVPG",
"display" : "Genomic CNV analysis",
"designation" : [
{
"language" : "fr",
"value" : "Analyse CNV pan-génomique"
}
]
},
{
"code" : "QFPCR",
"display" : "Rapid detection of fetal aneuploidies (QF-PCR)",
"designation" : [
{
"language" : "fr",
"value" : "Détection rapide des aneuploïdies (QF-PCR)"
}
]
},
{
"code" : "LPWGS",
"display" : "CNV (Microarray/LP-WGS)",
"designation" : [
{
"language" : "fr",
"value" : "CNV (micropuce/LP-WGS)"
}
]
},
{
"code" : "PG",
"display" : "Gene Panel",
"designation" : [
{
"language" : "fr",
"value" : "Panel de gènes"
}
]
},
{
"code" : "LP",
"display" : "Lymphocyte Phenotyping",
"designation" : [
{
"language" : "fr",
"value" : "Phénotypage lymphocytaire"
}
]
}
]
}