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 2025-08-21 |
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<id value="eidi-default-hpo"/>
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<status value="generated"/>
<div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: ValueSet eidi-default-hpo</b></p><a name="eidi-default-hpo"> </a><a name="hceidi-default-hpo"> </a><ul><li>Include these codes as defined in <code>http://purl.obolibrary.org/obo/hp.owl</code><table class="none"><tr><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td><td><b>French (fr)</b></td></tr><tr><td>HP:0011100</td><td>Miscellaneous - Intestinal atresia</td><td>Divers - Atrésie intestinale</td></tr><tr><td>HP:0002960</td><td>Miscellaneous - Autoimmunity</td><td>Divers - Auto-immunité</td></tr><tr><td>HP:0002206</td><td>Miscellaneous - Pulmonary fibrosis</td><td>Divers - Fibrose pulmonaire</td></tr><tr><td>HP:0001263</td><td>Miscellaneous - Global developmental delay</td><td>Divers - Retard de développement global</td></tr><tr><td>HP:0005575</td><td>Miscellaneous - Hemolytic-uremic syndrome</td><td>Divers - Syndrome hémolytique et urémique</td></tr><tr><td>HP:0001878</td><td>Haematological - Hemolytic anemia</td><td>Hématologique - Anémie hémolytique</td></tr><tr><td>HP:0001888</td><td>Haematological - Lymphopenia</td><td>Hématologique - Lymphopénie</td></tr><tr><td>HP:0001875</td><td>Haematological - Neutropenia</td><td>Hématologique - Neutropénie</td></tr><tr><td>HP:0001876</td><td>Haematological - Pancytopenia</td><td>Hématologique - Pancytopénie</td></tr><tr><td>HP:0001873</td><td>Haematological - Thrombocytopenia</td><td>Hématologique - Thrombopénie</td></tr><tr><td>HP:0004432</td><td>Immunodeficiency - Agammaglobulinemia</td><td>Immunodéficience - Agammaglobulinémie</td></tr><tr><td>HP:0005339</td><td>Immunodeficiency - Abnormality of complement system</td><td>Immunodéficience - Anomalie du système du complément</td></tr><tr><td>HP:0004315</td><td>Immunodeficiency - Decreased circulating IgG level</td><td>Immunodéficience - Baisse des IgG sériques</td></tr><tr><td>HP:0004430</td><td>Immunodeficiency - Severe combined immunodeficiency</td><td>Immunodéficience - Déficit immunitaire combiné sévère</td></tr><tr><td>HP:0004313</td><td>Immunodeficiency - Decreased antibody level in blood</td><td>Immunodéficience - Hypogammaglobulinémie</td></tr><tr><td>HP:0005374</td><td>Immunodeficiency - Cellular immunodeficiency</td><td>Immunodéficience - Immmunodéficience cellulaire</td></tr><tr><td>HP:0005363</td><td>Immunodeficiency - Humoral immunodeficiency</td><td>Immunodéficience - Immunodéficience humorale partielle</td></tr><tr><td>HP:0003212</td><td>Immunodeficiency - Increased IgE level</td><td>Immunodéficience - Taux d'IgE augmenté</td></tr><tr><td>HP:0410243</td><td>Immunodeficiency - Abnormal IgM level</td><td>Immunodéficience - Taux d'IgM anormal</td></tr><tr><td>HP:0002728</td><td>Infections - Chronic mucocutaneous candidiasis</td><td>Infections - Candidose cutanéo-muqueuse chronique</td></tr><tr><td>HP:0032101</td><td>Infections - Unusual infection</td><td>Infections - Infection inhabituelle</td></tr><tr><td>HP:0002719</td><td>Infections - Recurrent infections</td><td>Infections - Infections récurrentes</td></tr><tr><td>HP:0100806</td><td>Infections - Sepsis</td><td>Infections - Sepsis</td></tr><tr><td>HP:0200043</td><td>Infections - Verrucae</td><td>Infections - Verrue</td></tr><tr><td>HP:0001369</td><td>Inflammation - Arthritis</td><td>Inflammation - Arthrite</td></tr><tr><td>HP:0002583</td><td>Inflammation - Colitis</td><td>Inflammation - Colite</td></tr><tr><td>HP:0032323</td><td>Inflammation - Periodic fever</td><td>Inflammation - Fièvre périodique</td></tr><tr><td>HP:0012156</td><td>Inflammation - Hemophagocytosis</td><td>Inflammation - Hématophagocytose</td></tr><tr><td>HP:0000554</td><td>Inflammation - Inflammation of one or all portions of the uveal tract</td><td>Inflammation - Inflammation d'une ou de toutes les parties de l'uvée</td></tr><tr><td>HP:0002725</td><td>Inflammation - Systemic lupus erythematosus</td><td>Inflammation - Lupus érythémateux disséminé</td></tr><tr><td>HP:0009071</td><td>Inflammation - Inflammatory myopathy</td><td>Inflammation - Myopathie inflammatoire</td></tr><tr><td>HP:0012647</td><td>Inflammation - Abnormal inflammatory response</td><td>Inflammation - Réponse inflammatoire anormale</td></tr><tr><td>HP:0032154</td><td>Inflammation - Aphthous ulcer</td><td>Inflammation - Ulcère aphteux</td></tr><tr><td>HP:0002633</td><td>Inflammation - Vasculitis</td><td>Inflammation - Vascularite</td></tr><tr><td>HP:0001022</td><td>Skin and appendages - Albinism</td><td>Peau et phanères - Albinisme</td></tr><tr><td>HP:0001595</td><td>Skin and appendages - Abnormality of the hair</td><td>Peau et phanères - Anomalie des cheveux/poils</td></tr><tr><td>HP:0000924</td><td>Skin and appendages - Abnormality of the skeletal system</td><td>Peau et phanères - Anomalie du système squelettique</td></tr><tr><td>HP:0010720</td><td>Skin and appendages - Abnormal hair pattern</td><td>Peau et phanères - Anormalité de la distribution des cheveux</td></tr><tr><td>HP:0000968</td><td>Skin and appendages - Ectodermal dysplasia</td><td>Peau et phanères - Dysplasie ectodermique</td></tr><tr><td>HP:0000964</td><td>Skin and appendages - Eczema</td><td>Peau et phanères - Eczéma</td></tr><tr><td>HP:0000988</td><td>Skin and appendages - Skin rash</td><td>Peau et phanères - Exanthème</td></tr><tr><td>HP:0008404</td><td>Skin and appendages - Nail dystrophy</td><td>Peau et phanères - Onychodystrophie</td></tr><tr><td>HP:0011002</td><td>Skin and appendages - Osteopetrosis</td><td>Peau et phanères - Ostéopétrose</td></tr><tr><td>HP:0011362</td><td>Skin and appendages - Abnormal hair quantity</td><td>Peau et phanères - Quantité de cheveux anormale</td></tr><tr><td>HP:0000164</td><td>Skin and appendages - Any abnormality of the teeth</td><td>Peau et phanères - Toute anomalie des dents</td></tr></table></li></ul></div>
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<name value="eidi-default-hpo"/>
<title
value=" Inborn errors of immunity default clinical signs (HPO code)"/>
<status value="active"/>
<experimental value="false"/>
<date value="2025-08-21T10:49:27-04:00"/>
<publisher value="Ferlab.bio"/>
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<name value="Cqgc"/>
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<system value="email"/>
<value value="mailto:support@ferlab.bio"/>
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<description
value="Inborn errors of immunity default clinical signs (HPO code)"/>
<compose>
<include>
<system value="http://purl.obolibrary.org/obo/hp.owl"/>
<concept>
<code value="HP:0011100"/>
<display value="Miscellaneous - Intestinal atresia"/>
<designation>
<language value="fr"/>
<value value="Divers - Atrésie intestinale"/>
</designation>
</concept>
<concept>
<code value="HP:0002960"/>
<display value="Miscellaneous - Autoimmunity"/>
<designation>
<language value="fr"/>
<value value="Divers - Auto-immunité"/>
</designation>
</concept>
<concept>
<code value="HP:0002206"/>
<display value="Miscellaneous - Pulmonary fibrosis"/>
<designation>
<language value="fr"/>
<value value="Divers - Fibrose pulmonaire"/>
</designation>
</concept>
<concept>
<code value="HP:0001263"/>
<display value="Miscellaneous - Global developmental delay"/>
<designation>
<language value="fr"/>
<value value="Divers - Retard de développement global"/>
</designation>
</concept>
<concept>
<code value="HP:0005575"/>
<display value="Miscellaneous - Hemolytic-uremic syndrome"/>
<designation>
<language value="fr"/>
<value value="Divers - Syndrome hémolytique et urémique"/>
</designation>
</concept>
<concept>
<code value="HP:0001878"/>
<display value="Haematological - Hemolytic anemia"/>
<designation>
<language value="fr"/>
<value value="Hématologique - Anémie hémolytique"/>
</designation>
</concept>
<concept>
<code value="HP:0001888"/>
<display value="Haematological - Lymphopenia"/>
<designation>
<language value="fr"/>
<value value="Hématologique - Lymphopénie"/>
</designation>
</concept>
<concept>
<code value="HP:0001875"/>
<display value="Haematological - Neutropenia"/>
<designation>
<language value="fr"/>
<value value="Hématologique - Neutropénie"/>
</designation>
</concept>
<concept>
<code value="HP:0001876"/>
<display value="Haematological - Pancytopenia"/>
<designation>
<language value="fr"/>
<value value="Hématologique - Pancytopénie"/>
</designation>
</concept>
<concept>
<code value="HP:0001873"/>
<display value="Haematological - Thrombocytopenia"/>
<designation>
<language value="fr"/>
<value value="Hématologique - Thrombopénie"/>
</designation>
</concept>
<concept>
<code value="HP:0004432"/>
<display value="Immunodeficiency - Agammaglobulinemia"/>
<designation>
<language value="fr"/>
<value value="Immunodéficience - Agammaglobulinémie"/>
</designation>
</concept>
<concept>
<code value="HP:0005339"/>
<display value="Immunodeficiency - Abnormality of complement system"/>
<designation>
<language value="fr"/>
<value
value="Immunodéficience - Anomalie du système du complément"/>
</designation>
</concept>
<concept>
<code value="HP:0004315"/>
<display value="Immunodeficiency - Decreased circulating IgG level"/>
<designation>
<language value="fr"/>
<value value="Immunodéficience - Baisse des IgG sériques"/>
</designation>
</concept>
<concept>
<code value="HP:0004430"/>
<display value="Immunodeficiency - Severe combined immunodeficiency"/>
<designation>
<language value="fr"/>
<value
value="Immunodéficience - Déficit immunitaire combiné sévère"/>
</designation>
</concept>
<concept>
<code value="HP:0004313"/>
<display
value="Immunodeficiency - Decreased antibody level in blood"/>
<designation>
<language value="fr"/>
<value value="Immunodéficience - Hypogammaglobulinémie"/>
</designation>
</concept>
<concept>
<code value="HP:0005374"/>
<display value="Immunodeficiency - Cellular immunodeficiency"/>
<designation>
<language value="fr"/>
<value value="Immunodéficience - Immmunodéficience cellulaire"/>
</designation>
</concept>
<concept>
<code value="HP:0005363"/>
<display value="Immunodeficiency - Humoral immunodeficiency"/>
<designation>
<language value="fr"/>
<value
value="Immunodéficience - Immunodéficience humorale partielle"/>
</designation>
</concept>
<concept>
<code value="HP:0003212"/>
<display value="Immunodeficiency - Increased IgE level"/>
<designation>
<language value="fr"/>
<value value="Immunodéficience - Taux d'IgE augmenté"/>
</designation>
</concept>
<concept>
<code value="HP:0410243"/>
<display value="Immunodeficiency - Abnormal IgM level"/>
<designation>
<language value="fr"/>
<value value="Immunodéficience - Taux d'IgM anormal"/>
</designation>
</concept>
<concept>
<code value="HP:0002728"/>
<display value="Infections - Chronic mucocutaneous candidiasis"/>
<designation>
<language value="fr"/>
<value value="Infections - Candidose cutanéo-muqueuse chronique"/>
</designation>
</concept>
<concept>
<code value="HP:0032101"/>
<display value="Infections - Unusual infection"/>
<designation>
<language value="fr"/>
<value value="Infections - Infection inhabituelle"/>
</designation>
</concept>
<concept>
<code value="HP:0002719"/>
<display value="Infections - Recurrent infections"/>
<designation>
<language value="fr"/>
<value value="Infections - Infections récurrentes"/>
</designation>
</concept>
<concept>
<code value="HP:0100806"/>
<display value="Infections - Sepsis"/>
<designation>
<language value="fr"/>
<value value="Infections - Sepsis"/>
</designation>
</concept>
<concept>
<code value="HP:0200043"/>
<display value="Infections - Verrucae"/>
<designation>
<language value="fr"/>
<value value="Infections - Verrue"/>
</designation>
</concept>
<concept>
<code value="HP:0001369"/>
<display value="Inflammation - Arthritis"/>
<designation>
<language value="fr"/>
<value value="Inflammation - Arthrite"/>
</designation>
</concept>
<concept>
<code value="HP:0002583"/>
<display value="Inflammation - Colitis"/>
<designation>
<language value="fr"/>
<value value="Inflammation - Colite"/>
</designation>
</concept>
<concept>
<code value="HP:0032323"/>
<display value="Inflammation - Periodic fever"/>
<designation>
<language value="fr"/>
<value value="Inflammation - Fièvre périodique"/>
</designation>
</concept>
<concept>
<code value="HP:0012156"/>
<display value="Inflammation - Hemophagocytosis"/>
<designation>
<language value="fr"/>
<value value="Inflammation - Hématophagocytose"/>
</designation>
</concept>
<concept>
<code value="HP:0000554"/>
<display
value="Inflammation - Inflammation of one or all portions of the uveal tract"/>
<designation>
<language value="fr"/>
<value
value="Inflammation - Inflammation d'une ou de toutes les parties de l'uvée"/>
</designation>
</concept>
<concept>
<code value="HP:0002725"/>
<display value="Inflammation - Systemic lupus erythematosus"/>
<designation>
<language value="fr"/>
<value value="Inflammation - Lupus érythémateux disséminé"/>
</designation>
</concept>
<concept>
<code value="HP:0009071"/>
<display value="Inflammation - Inflammatory myopathy"/>
<designation>
<language value="fr"/>
<value value="Inflammation - Myopathie inflammatoire"/>
</designation>
</concept>
<concept>
<code value="HP:0012647"/>
<display value="Inflammation - Abnormal inflammatory response"/>
<designation>
<language value="fr"/>
<value value="Inflammation - Réponse inflammatoire anormale"/>
</designation>
</concept>
<concept>
<code value="HP:0032154"/>
<display value="Inflammation - Aphthous ulcer"/>
<designation>
<language value="fr"/>
<value value="Inflammation - Ulcère aphteux"/>
</designation>
</concept>
<concept>
<code value="HP:0002633"/>
<display value="Inflammation - Vasculitis"/>
<designation>
<language value="fr"/>
<value value="Inflammation - Vascularite"/>
</designation>
</concept>
<concept>
<code value="HP:0001022"/>
<display value="Skin and appendages - Albinism"/>
<designation>
<language value="fr"/>
<value value="Peau et phanères - Albinisme"/>
</designation>
</concept>
<concept>
<code value="HP:0001595"/>
<display value="Skin and appendages - Abnormality of the hair"/>
<designation>
<language value="fr"/>
<value value="Peau et phanères - Anomalie des cheveux/poils"/>
</designation>
</concept>
<concept>
<code value="HP:0000924"/>
<display
value="Skin and appendages - Abnormality of the skeletal system"/>
<designation>
<language value="fr"/>
<value value="Peau et phanères - Anomalie du système squelettique"/>
</designation>
</concept>
<concept>
<code value="HP:0010720"/>
<display value="Skin and appendages - Abnormal hair pattern"/>
<designation>
<language value="fr"/>
<value
value="Peau et phanères - Anormalité de la distribution des cheveux"/>
</designation>
</concept>
<concept>
<code value="HP:0000968"/>
<display value="Skin and appendages - Ectodermal dysplasia"/>
<designation>
<language value="fr"/>
<value value="Peau et phanères - Dysplasie ectodermique"/>
</designation>
</concept>
<concept>
<code value="HP:0000964"/>
<display value="Skin and appendages - Eczema"/>
<designation>
<language value="fr"/>
<value value="Peau et phanères - Eczéma"/>
</designation>
</concept>
<concept>
<code value="HP:0000988"/>
<display value="Skin and appendages - Skin rash"/>
<designation>
<language value="fr"/>
<value value="Peau et phanères - Exanthème"/>
</designation>
</concept>
<concept>
<code value="HP:0008404"/>
<display value="Skin and appendages - Nail dystrophy"/>
<designation>
<language value="fr"/>
<value value="Peau et phanères - Onychodystrophie"/>
</designation>
</concept>
<concept>
<code value="HP:0011002"/>
<display value="Skin and appendages - Osteopetrosis"/>
<designation>
<language value="fr"/>
<value value="Peau et phanères - Ostéopétrose"/>
</designation>
</concept>
<concept>
<code value="HP:0011362"/>
<display value="Skin and appendages - Abnormal hair quantity"/>
<designation>
<language value="fr"/>
<value value="Peau et phanères - Quantité de cheveux anormale"/>
</designation>
</concept>
<concept>
<code value="HP:0000164"/>
<display value="Skin and appendages - Any abnormality of the teeth"/>
<designation>
<language value="fr"/>
<value value="Peau et phanères - Toute anomalie des dents"/>
</designation>
</concept>
</include>
</compose>
</ValueSet>