Ferlab.bio CodeSystem/observation-code - TTL Representation

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: Ferlab.bio CodeSystem/observation-code - TTL Representation

Active as of 2025-08-25
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@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

# - resource -------------------------------------------------------------------

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