Cqgc Implementation Guide
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: Ferlab.bio CodeSystem/observation-code - XML Representation

Active as of 2025-08-01

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<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></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="2025-08-01T14:30:53+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>
</CodeSystem>