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 |
<CodeSystem xmlns="http://hl7.org/fhir">
<id value="observation-code"/>
<text>
<status value="generated"/>
<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>
</text>
<url value="http://fhir.cqgc.ferlab.bio/CodeSystem/observation-code"/>
<version value="0.1.0"/>
<name value="observation-code"/>
<title value="Observation codes"/>
<status value="active"/>
<experimental value="false"/>
<date value="2025-08-25T15:12:45+00:00"/>
<publisher value="Ferlab.bio"/>
<contact>
<name value="Cqgc"/>
<telecom>
<system value="email"/>
<value value="mailto:support@ferlab.bio"/>
</telecom>
</contact>
<description value="Codes of observations in our system"/>
<caseSensitive value="true"/>
<content value="complete"/>
<concept>
<code value="OBSG"/>
<display value="General Observation"/>
<designation>
<language value="fr"/>
<value value="Observation générale"/>
</designation>
</concept>
<concept>
<code value="INDIC"/>
<display value="Indication"/>
<designation>
<language value="fr"/>
<value value="Indication"/>
</designation>
</concept>
<concept>
<code value="INVES"/>
<display value="Investigation"/>
<designation>
<language value="fr"/>
<value value="Investigation"/>
</designation>
</concept>
<concept>
<code value="BMUS"/>
<display value="Muscle Biopsy"/>
<designation>
<language value="fr"/>
<value value="Biopsie musculaire"/>
</designation>
</concept>
<concept>
<code value="BMET"/>
<display value="Metabolic Work-Up"/>
<designation>
<language value="fr"/>
<value value="Bilan métabolique"/>
</designation>
</concept>
<concept>
<code value="CKIN"/>
<display value="Serum Creatine Kinase"/>
<designation>
<language value="fr"/>
<value value="Créatine kinase sérique"/>
</designation>
</concept>
<concept>
<code value="CAAP"/>
<display value="Plasma Amino Acid Chromatography"/>
<designation>
<language value="fr"/>
<value value="Chromatographie acides aminés plasmatiques"/>
</designation>
</concept>
<concept>
<code value="ACYL"/>
<display value="Acylcarnitines"/>
<designation>
<language value="fr"/>
<value value="Acylcarnitines"/>
</designation>
</concept>
<concept>
<code value="IRMC"/>
<display value="Cerebral MRI"/>
<designation>
<language value="fr"/>
<value value="IRM cérébrale"/>
</designation>
</concept>
<concept>
<code value="IRMM"/>
<display value="Muscle MRI"/>
<designation>
<language value="fr"/>
<value value="IRM musculaire"/>
</designation>
</concept>
<concept>
<code value="SRMN"/>
<display value="NMR Spectroscopy"/>
<designation>
<language value="fr"/>
<value value="Spectroscopie RMN"/>
</designation>
</concept>
<concept>
<code value="ECAR"/>
<display value="Cardiac Ultrasound"/>
<designation>
<language value="fr"/>
<value value="Échographie cardiaque"/>
</designation>
</concept>
<concept>
<code value="EABD"/>
<display value="Abdominal Ultrasound"/>
<designation>
<language value="fr"/>
<value value="Échographie abdominale"/>
</designation>
</concept>
<concept>
<code value="EEG"/>
<display value="Electroencephalogram (EEG)"/>
<designation>
<language value="fr"/>
<value value="Électroencéphalogramme (EEG)"/>
</designation>
</concept>
<concept>
<code value="EMG"/>
<display value="Electromyography (EMG)"/>
<designation>
<language value="fr"/>
<value value="Electromyographie (EMG)"/>
</designation>
</concept>
<concept>
<code value="OPHT"/>
<display value="Ophthalmological Examination"/>
<designation>
<language value="fr"/>
<value value="Examen ophtalmologique"/>
</designation>
</concept>
<concept>
<code value="CONS"/>
<display value="Consanguinity"/>
<designation>
<language value="fr"/>
<value value="Consanguinité"/>
</designation>
</concept>
<concept>
<code value="DSTA"/>
<display value="Patient Disease Status"/>
<designation>
<language value="fr"/>
<value value="Statut de la maladie du patient"/>
</designation>
</concept>
<concept>
<code value="CTGR"/>
<display value="CTG Repeat Testing (Steinert Disease)"/>
<designation>
<language value="fr"/>
<value value="Test répétitions CTG (maladie de Steinert)"/>
</designation>
</concept>
<concept>
<code value="GCNR"/>
<display value="GCN Repeat Testing (Oculopharyngeal Muscular Dystrophy)"/>
<designation>
<language value="fr"/>
<value
value="Test répétitions GCN (dystrophie musculaire oculopharyngée)"/>
</designation>
</concept>
<concept>
<code value="TGDD"/>
<display
value="Deletions and Duplications Testing (Duchenne and Becker Dystrophies)"/>
<designation>
<language value="fr"/>
<value
value="Test délétions et duplication (dystrophies Duchenne et Becker)"/>
</designation>
</concept>
<concept>
<code value="CGH"/>
<display value="Comparative Genomic Hybridization"/>
<designation>
<language value="fr"/>
<value value="Hybridation génomique comparative"/>
</designation>
</concept>
<concept>
<code value="TSXF"/>
<display value="Fragile X Syndrome Testing"/>
<designation>
<language value="fr"/>
<value value="Test syndrome de X fragile"/>
</designation>
</concept>
<concept>
<code value="MMTH"/>
<display value="Missing Mother"/>
<designation>
<language value="fr"/>
<value value="Mère manquante"/>
</designation>
</concept>
<concept>
<code value="MFTH"/>
<display value="Missing Father"/>
<designation>
<language value="fr"/>
<value value="Père manquant"/>
</designation>
</concept>
<concept>
<code value="ETHN"/>
<display value="Ethnicity"/>
<designation>
<language value="fr"/>
<value value="Ethnicité"/>
</designation>
</concept>
<concept>
<code value="PHEN"/>
<display value="Clinical Sign (HPO)"/>
<designation>
<language value="fr"/>
<value value="Signe clinique (HPO)"/>
</designation>
</concept>
<concept>
<code value="CNVPG"/>
<display value="Genomic CNV analysis"/>
<designation>
<language value="fr"/>
<value value="Analyse CNV pan-génomique"/>
</designation>
</concept>
<concept>
<code value="QFPCR"/>
<display value="Rapid detection of fetal aneuploidies (QF-PCR)"/>
<designation>
<language value="fr"/>
<value value="Détection rapide des aneuploïdies (QF-PCR)"/>
</designation>
</concept>
<concept>
<code value="LPWGS"/>
<display value="CNV (Microarray/LP-WGS)"/>
<designation>
<language value="fr"/>
<value value="CNV (micropuce/LP-WGS)"/>
</designation>
</concept>
<concept>
<code value="PG"/>
<display value="Gene Panel"/>
<designation>
<language value="fr"/>
<value value="Panel de gènes"/>
</designation>
</concept>
<concept>
<code value="LP"/>
<display value="Lymphocyte Phenotyping"/>
<designation>
<language value="fr"/>
<value value="Phénotypage lymphocytaire"/>
</designation>
</concept>
</CodeSystem>