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="analysis-request-code"/>
<text>
<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: CodeSystem analysis-request-code</b></p><a name="analysis-request-code"> </a><a name="hcanalysis-request-code"> </a><p>This case-sensitive code system <code>http://fhir.cqgc.ferlab.bio/CodeSystem/analysis-request-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>Definition</b></td><td><b>French (fr)</b></td></tr><tr><td style="white-space:nowrap">MMG<a name="analysis-request-code-MMG"> </a></td><td>Global Muscular Diseases</td><td/><td>Maladies musculaires globales</td></tr><tr><td style="white-space:nowrap">DYSM<a name="analysis-request-code-DYSM"> </a></td><td>Muscular Dystrophies</td><td/><td>Dystrophies musculaires</td></tr><tr><td style="white-space:nowrap">RHAB<a name="analysis-request-code-RHAB"> </a></td><td>Rhabdomyolysis</td><td/><td>Rhabdomyolyse</td></tr><tr><td style="white-space:nowrap">MITN<a name="analysis-request-code-MITN"> </a></td><td>Nuclear Mitochondriopathies</td><td/><td>Mitochondriopathies nucléaires</td></tr><tr><td style="white-space:nowrap">MYOC<a name="analysis-request-code-MYOC"> </a></td><td>Congenital Myopathies</td><td/><td>Myopathies congénitales</td></tr><tr><td style="white-space:nowrap">MYAC<a name="analysis-request-code-MYAC"> </a></td><td>Congenital Myasthenia</td><td/><td>Myasthénies congénitales</td></tr><tr><td style="white-space:nowrap">HYPM<a name="analysis-request-code-HYPM"> </a></td><td>Malignant Hyperthermia</td><td/><td>Hyperthermie maligne</td></tr><tr><td style="white-space:nowrap">RGDI<a name="analysis-request-code-RGDI"> </a></td><td>Global Developmental Delay / Intellectual Disability (Trio)</td><td/><td>Retard global de développement / Déficience intellectuelle (Trio)</td></tr><tr><td style="white-space:nowrap">POLYM<a name="analysis-request-code-POLYM"> </a></td><td>Polymalformation Postnatal Context</td><td/><td>Polymalformation contexte postnatal</td></tr><tr><td style="white-space:nowrap">TRATU<a name="analysis-request-code-TRATU"> </a></td><td>Tumoral Transcriptome</td><td/><td>Transcriptome tumoral</td></tr><tr><td style="white-space:nowrap">TUHEM<a name="analysis-request-code-TUHEM"> </a></td><td>Hematological Malignancies Predisposition</td><td/><td>Prédisposition hémopathies malignes</td></tr><tr><td style="white-space:nowrap">TUPED<a name="analysis-request-code-TUPED"> </a></td><td>Pediatric Cancer Predisposition</td><td/><td>Prédisposition cancers pédiatriques</td></tr><tr><td style="white-space:nowrap">EXTUM<a name="analysis-request-code-EXTUM"> </a></td><td>Tumoral Analysis</td><td/><td>Analyse tumorale</td></tr><tr><td style="white-space:nowrap">SHEMA<a name="analysis-request-code-SHEMA"> </a></td><td>Leukemia (Somatic)</td><td/><td>Leucémie (somatique)</td></tr><tr><td style="white-space:nowrap">SCID<a name="analysis-request-code-SCID"> </a></td><td>Severe Combined Immune Deficiency</td><td/><td>Déficit immunitaire combiné sévère</td></tr><tr><td style="white-space:nowrap">STMO<a name="analysis-request-code-STMO"> </a></td><td>Soft Tissue and Bone Sarcoma</td><td/><td>Sarcome des tissus mous et osseux</td></tr><tr><td style="white-space:nowrap">FEAN<a name="analysis-request-code-FEAN"> </a></td><td>Fetal Anomalies</td><td>This test is indicated for fetuses with one of the following presentations: 1) multisystem involvement in the presence of 2 or more major congenital anomalies, 2) non-immune hydrops fetalis, 3) intra-uterin growth retardation in the presence of a major congenital anomaly, 4) an isolated major congenital anomaly suggestive of a monogenic disorder, for which a molecular diagnosis could have an impact on the management of the pregnancy or the child at birth. In the context of this test and according to the CDC definition, a major anomaly is defined as a structural abnormality present before birth that results in significant medical, social, or cosmetic consequences. Typically, it requires medical intervention, as opposed to a minor anomaly.</td><td>Anomalies fœtales</td></tr><tr><td style="white-space:nowrap">DPSO<a name="analysis-request-code-DPSO"> </a></td><td>Superoxide Production Defect</td><td/><td>Défaut de production de superoxyde</td></tr><tr><td style="white-space:nowrap">EIDC<a name="analysis-request-code-EIDC"> </a></td><td>Inherited Complement Errors</td><td/><td>Erreurs innées du complément</td></tr><tr><td style="white-space:nowrap">EIDI<a name="analysis-request-code-EIDI"> </a></td><td>Inborn Errors of Immunity</td><td>Primary immunodeficiency (aka innate errors of immunity; IEI) disorders are genetic conditions that cause defects in the immune system, leading to increased susceptibility to infections and other health problems. These disorders are caused by mutations in genes that are essential for immune system function. They are primarily caused by genetic mutations that affect various components of the immune system, including B cells, T cells, and phagocytes.</td><td>Erreurs innées de l'immunité</td></tr><tr><td style="white-space:nowrap">EIII<a name="analysis-request-code-EIII"> </a></td><td>Inherited Errors of Intrinsic Immunity</td><td/><td>Erreurs innées de l'immunité intrinsèque</td></tr><tr><td style="white-space:nowrap">EPIL<a name="analysis-request-code-EPIL"> </a></td><td>Epilepsy Without Intellectual Disability</td><td>Epilepsy is a neurodevelopmental disorder characterized by recurrent, unprovoked seizures. These seizures are caused by abnormal electrical activity in the brain. The condition can vary widely in terms of severity, frequency, and type of seizures experienced. Epilepsy can be either isolated or, as is often the case in pediatrics, comorbid with developmental delay and intellectual disability (ID).</td><td>Epilepsie sans déficience intellectuelle</td></tr><tr><td style="white-space:nowrap">HDIP<a name="analysis-request-code-HDIP"> </a></td><td>Hypogammaglobulinemia and Primary Immune Dysregulation</td><td/><td>Hypogammaglobulinémie et dysrégulation immunitaire primitive</td></tr><tr><td style="white-space:nowrap">HLEB<a name="analysis-request-code-HLEB"> </a></td><td>Lymphohistiocytic Hemophagocytosis and Chronic Active Epstein-Barr Virus Infection</td><td/><td>Hémophagocytose lymphohistiocytaire et à l'infection chronique active au virus Epstein Barr</td></tr><tr><td style="white-space:nowrap">HLH<a name="analysis-request-code-HLH"> </a></td><td>Hemophagocytic Lymphohistiocytosis</td><td>Hemophagocytic lymphohistiocytosis (HLH) is a devastating, hyper-inflammatory condition that results in multi-organ failure and death. The systemic inflammation that characterizes the disease results from the inappropriate and dysregulated activation of natural killer (NK) cells, CD8+ cytotoxic T-cells, and macrophages. The disease is classified as either primary (resulting from inherited genetic mutations) or secondary (an inappropriate host response to infection, malignancy, or autoimmune disease). Patients with primary disease present early in childhood, whereas those with secondary disease present as adults with an associated acute illness, most commonly sepsis or a hematologic malignancy. Treatment is focused on immunosuppression coupled with cytotoxic chemotherapy, without which large proportions of patients inevitably die (https://www.ncbi.nlm.nih.gov/books/NBK557776/).</td><td>Hémophagocytose lymphohistiocytaire</td></tr><tr><td style="white-space:nowrap">MAI<a name="analysis-request-code-MAI"> </a></td><td>Autoinflammatory Diseases</td><td/><td>Maladies auto-inflammatoires</td></tr><tr><td style="white-space:nowrap">MSMD<a name="analysis-request-code-MSMD"> </a></td><td>Mendelian Susceptibility to Mycobacterial Diseases</td><td/><td>Syndrome de prédisposition mendélienne aux infections mycobactériennes (MSMD)</td></tr><tr><td style="white-space:nowrap">NPC<a name="analysis-request-code-NPC"> </a></td><td>Congenital Neutropenia</td><td/><td>Neutropénie congénitale</td></tr><tr><td style="white-space:nowrap">RETINO<a name="analysis-request-code-RETINO"> </a></td><td>Retinopathy</td><td/><td>Rétinopathies</td></tr><tr><td style="white-space:nowrap">SHIGE<a name="analysis-request-code-SHIGE"> </a></td><td>Hyper-IgE Syndrome</td><td/><td>Syndrome d'hyper-IgE</td></tr><tr><td style="white-space:nowrap">SLA<a name="analysis-request-code-SLA"> </a></td><td>Amyotrophic Lateral Sclerosis</td><td/><td>Sclérose latérale amyotrophique</td></tr><tr><td style="white-space:nowrap">SURD<a name="analysis-request-code-SURD"> </a></td><td>Hearing Loss</td><td/><td>Surdité</td></tr><tr><td style="white-space:nowrap">VEOIB<a name="analysis-request-code-VEOIB"> </a></td><td>Very Early Onset Intestinal Bowl Disease</td><td>Very Early Onset Inflammatory Bowel Disease (VEO-IBD) is defined as Inflammatory Bowel Disease (IBD) diagnosed before the age of 6. It's a less common form of IBD, with a higher likelihood of being caused by a genetic defect or underlying immunodeficiency compared to IBD diagnosed at older ages.</td><td>Maladie inflammatoire de l’intestin très précoce</td></tr><tr><td style="white-space:nowrap">GENOR<a name="analysis-request-code-GENOR"> </a></td><td>Whole Genome Sequencing - Non-Specific</td><td/><td>Séquençage du génome entier - non spécifique</td></tr></table></div>
</text>
<url value="http://fhir.cqgc.ferlab.bio/CodeSystem/analysis-request-code"/>
<version value="0.1.0"/>
<name value="analysis-request-code"/>
<title value="Analysis request code"/>
<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="Gene panel requested for analysis"/>
<caseSensitive value="true"/>
<content value="complete"/>
<concept>
<code value="MMG"/>
<display value="Global Muscular Diseases"/>
<designation>
<language value="fr"/>
<value value="Maladies musculaires globales"/>
</designation>
</concept>
<concept>
<code value="DYSM"/>
<display value="Muscular Dystrophies"/>
<designation>
<language value="fr"/>
<value value="Dystrophies musculaires"/>
</designation>
</concept>
<concept>
<code value="RHAB"/>
<display value="Rhabdomyolysis"/>
<designation>
<language value="fr"/>
<value value="Rhabdomyolyse"/>
</designation>
</concept>
<concept>
<code value="MITN"/>
<display value="Nuclear Mitochondriopathies"/>
<designation>
<language value="fr"/>
<value value="Mitochondriopathies nucléaires"/>
</designation>
</concept>
<concept>
<code value="MYOC"/>
<display value="Congenital Myopathies"/>
<designation>
<language value="fr"/>
<value value="Myopathies congénitales"/>
</designation>
</concept>
<concept>
<code value="MYAC"/>
<display value="Congenital Myasthenia"/>
<designation>
<language value="fr"/>
<value value="Myasthénies congénitales"/>
</designation>
</concept>
<concept>
<code value="HYPM"/>
<display value="Malignant Hyperthermia"/>
<designation>
<language value="fr"/>
<value value="Hyperthermie maligne"/>
</designation>
</concept>
<concept>
<code value="RGDI"/>
<display
value="Global Developmental Delay / Intellectual Disability (Trio)"/>
<designation>
<language value="fr"/>
<value
value="Retard global de développement / Déficience intellectuelle (Trio)"/>
</designation>
</concept>
<concept>
<code value="POLYM"/>
<display value="Polymalformation Postnatal Context"/>
<designation>
<language value="fr"/>
<value value="Polymalformation contexte postnatal"/>
</designation>
</concept>
<concept>
<code value="TRATU"/>
<display value="Tumoral Transcriptome"/>
<designation>
<language value="fr"/>
<value value="Transcriptome tumoral"/>
</designation>
</concept>
<concept>
<code value="TUHEM"/>
<display value="Hematological Malignancies Predisposition"/>
<designation>
<language value="fr"/>
<value value="Prédisposition hémopathies malignes"/>
</designation>
</concept>
<concept>
<code value="TUPED"/>
<display value="Pediatric Cancer Predisposition"/>
<designation>
<language value="fr"/>
<value value="Prédisposition cancers pédiatriques"/>
</designation>
</concept>
<concept>
<code value="EXTUM"/>
<display value="Tumoral Analysis"/>
<designation>
<language value="fr"/>
<value value="Analyse tumorale"/>
</designation>
</concept>
<concept>
<code value="SHEMA"/>
<display value="Leukemia (Somatic)"/>
<designation>
<language value="fr"/>
<value value="Leucémie (somatique)"/>
</designation>
</concept>
<concept>
<code value="SCID"/>
<display value="Severe Combined Immune Deficiency"/>
<designation>
<language value="fr"/>
<value value="Déficit immunitaire combiné sévère"/>
</designation>
</concept>
<concept>
<code value="STMO"/>
<display value="Soft Tissue and Bone Sarcoma"/>
<designation>
<language value="fr"/>
<value value="Sarcome des tissus mous et osseux"/>
</designation>
</concept>
<concept>
<code value="FEAN"/>
<display value="Fetal Anomalies"/>
<definition
value="This test is indicated for fetuses with one of the following presentations: 1) multisystem involvement in the presence of 2 or more major congenital anomalies, 2) non-immune hydrops fetalis, 3) intra-uterin growth retardation in the presence of a major congenital anomaly, 4) an isolated major congenital anomaly suggestive of a monogenic disorder, for which a molecular diagnosis could have an impact on the management of the pregnancy or the child at birth. In the context of this test and according to the CDC definition, a major anomaly is defined as a structural abnormality present before birth that results in significant medical, social, or cosmetic consequences. Typically, it requires medical intervention, as opposed to a minor anomaly."/>
<designation>
<language value="fr"/>
<value value="Anomalies fœtales"/>
</designation>
</concept>
<concept>
<code value="DPSO"/>
<display value="Superoxide Production Defect"/>
<designation>
<language value="fr"/>
<value value="Défaut de production de superoxyde"/>
</designation>
</concept>
<concept>
<code value="EIDC"/>
<display value="Inherited Complement Errors"/>
<designation>
<language value="fr"/>
<value value="Erreurs innées du complément"/>
</designation>
</concept>
<concept>
<code value="EIDI"/>
<display value="Inborn Errors of Immunity"/>
<definition
value="Primary immunodeficiency (aka innate errors of immunity; IEI) disorders are genetic conditions that cause defects in the immune system, leading to increased susceptibility to infections and other health problems. These disorders are caused by mutations in genes that are essential for immune system function. They are primarily caused by genetic mutations that affect various components of the immune system, including B cells, T cells, and phagocytes."/>
<designation>
<language value="fr"/>
<value value="Erreurs innées de l'immunité"/>
</designation>
</concept>
<concept>
<code value="EIII"/>
<display value="Inherited Errors of Intrinsic Immunity"/>
<designation>
<language value="fr"/>
<value value="Erreurs innées de l'immunité intrinsèque"/>
</designation>
</concept>
<concept>
<code value="EPIL"/>
<display value="Epilepsy Without Intellectual Disability"/>
<definition
value="Epilepsy is a neurodevelopmental disorder characterized by recurrent, unprovoked seizures. These seizures are caused by abnormal electrical activity in the brain. The condition can vary widely in terms of severity, frequency, and type of seizures experienced. Epilepsy can be either isolated or, as is often the case in pediatrics, comorbid with developmental delay and intellectual disability (ID)."/>
<designation>
<language value="fr"/>
<value value="Epilepsie sans déficience intellectuelle"/>
</designation>
</concept>
<concept>
<code value="HDIP"/>
<display value="Hypogammaglobulinemia and Primary Immune Dysregulation"/>
<designation>
<language value="fr"/>
<value
value="Hypogammaglobulinémie et dysrégulation immunitaire primitive"/>
</designation>
</concept>
<concept>
<code value="HLEB"/>
<display
value="Lymphohistiocytic Hemophagocytosis and Chronic Active Epstein-Barr Virus Infection"/>
<designation>
<language value="fr"/>
<value
value="Hémophagocytose lymphohistiocytaire et à l'infection chronique active au virus Epstein Barr"/>
</designation>
</concept>
<concept>
<code value="HLH"/>
<display value="Hemophagocytic Lymphohistiocytosis"/>
<definition
value="Hemophagocytic lymphohistiocytosis (HLH) is a devastating, hyper-inflammatory condition that results in multi-organ failure and death. The systemic inflammation that characterizes the disease results from the inappropriate and dysregulated activation of natural killer (NK) cells, CD8+ cytotoxic T-cells, and macrophages. The disease is classified as either primary (resulting from inherited genetic mutations) or secondary (an inappropriate host response to infection, malignancy, or autoimmune disease). Patients with primary disease present early in childhood, whereas those with secondary disease present as adults with an associated acute illness, most commonly sepsis or a hematologic malignancy. Treatment is focused on immunosuppression coupled with cytotoxic chemotherapy, without which large proportions of patients inevitably die (https://www.ncbi.nlm.nih.gov/books/NBK557776/)."/>
<designation>
<language value="fr"/>
<value value="Hémophagocytose lymphohistiocytaire"/>
</designation>
</concept>
<concept>
<code value="MAI"/>
<display value="Autoinflammatory Diseases"/>
<designation>
<language value="fr"/>
<value value="Maladies auto-inflammatoires"/>
</designation>
</concept>
<concept>
<code value="MSMD"/>
<display value="Mendelian Susceptibility to Mycobacterial Diseases"/>
<designation>
<language value="fr"/>
<value
value="Syndrome de prédisposition mendélienne aux infections mycobactériennes (MSMD)"/>
</designation>
</concept>
<concept>
<code value="NPC"/>
<display value="Congenital Neutropenia"/>
<designation>
<language value="fr"/>
<value value="Neutropénie congénitale"/>
</designation>
</concept>
<concept>
<code value="RETINO"/>
<display value="Retinopathy"/>
<designation>
<language value="fr"/>
<value value="Rétinopathies"/>
</designation>
</concept>
<concept>
<code value="SHIGE"/>
<display value="Hyper-IgE Syndrome"/>
<designation>
<language value="fr"/>
<value value="Syndrome d'hyper-IgE"/>
</designation>
</concept>
<concept>
<code value="SLA"/>
<display value="Amyotrophic Lateral Sclerosis"/>
<designation>
<language value="fr"/>
<value value="Sclérose latérale amyotrophique"/>
</designation>
</concept>
<concept>
<code value="SURD"/>
<display value="Hearing Loss"/>
<designation>
<language value="fr"/>
<value value="Surdité"/>
</designation>
</concept>
<concept>
<code value="VEOIB"/>
<display value="Very Early Onset Intestinal Bowl Disease"/>
<definition
value="Very Early Onset Inflammatory Bowel Disease (VEO-IBD) is defined as Inflammatory Bowel Disease (IBD) diagnosed before the age of 6. It's a less common form of IBD, with a higher likelihood of being caused by a genetic defect or underlying immunodeficiency compared to IBD diagnosed at older ages."/>
<designation>
<language value="fr"/>
<value value="Maladie inflammatoire de l’intestin très précoce"/>
</designation>
</concept>
<concept>
<code value="GENOR"/>
<display value="Whole Genome Sequencing - Non-Specific"/>
<designation>
<language value="fr"/>
<value value="Séquençage du génome entier - non spécifique"/>
</designation>
</concept>
</CodeSystem>