Inborn errors of immunity default clinical signs (HPO code) - TTL Representation

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: Inborn errors of immunity default clinical signs (HPO code) - TTL Representation

Active as of 2025-08-21
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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:ValueSet ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "eidi-default-hpo"] ; # 
  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: 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>"^^rdf:XMLLiteral
  ] ; # 
  fhir:url [ fhir:v "http://fhir.cqgc.ferlab.bio/ValueSet/eidi-default-hpo"^^xsd:anyURI] ; # 
  fhir:version [ fhir:v "0.1.0"] ; # 
  fhir:name [ fhir:v "eidi-default-hpo"] ; # 
  fhir:title [ fhir:v " Inborn errors of immunity default clinical signs (HPO code)"] ; # 
  fhir:status [ fhir:v "active"] ; # 
  fhir:experimental [ fhir:v false] ; # 
  fhir:date [ fhir:v "2025-08-21T10:49:27-04:00"^^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 "Inborn errors of immunity default clinical signs (HPO code)"] ; # 
  fhir:compose [
    ( fhir:include [
fhir:system [ fhir:v "http://purl.obolibrary.org/obo/hp.owl"^^xsd:anyURI ] ;
      ( fhir:concept [
fhir:code [ fhir:v "HP:0011100" ] ;
fhir:display [ fhir:v "Miscellaneous - Intestinal atresia" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Divers - Atrésie intestinale" ]         ] )       ] [
fhir:code [ fhir:v "HP:0002960" ] ;
fhir:display [ fhir:v "Miscellaneous - Autoimmunity" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Divers - Auto-immunité" ]         ] )       ] [
fhir:code [ fhir:v "HP:0002206" ] ;
fhir:display [ fhir:v "Miscellaneous - Pulmonary fibrosis" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Divers - Fibrose pulmonaire" ]         ] )       ] [
fhir:code [ fhir:v "HP:0001263" ] ;
fhir:display [ fhir:v "Miscellaneous - Global developmental delay" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Divers - Retard de développement global" ]         ] )       ] [
fhir:code [ fhir:v "HP:0005575" ] ;
fhir:display [ fhir:v "Miscellaneous - Hemolytic-uremic syndrome" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Divers - Syndrome hémolytique et urémique" ]         ] )       ] [
fhir:code [ fhir:v "HP:0001878" ] ;
fhir:display [ fhir:v "Haematological - Hemolytic anemia" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Hématologique - Anémie hémolytique" ]         ] )       ] [
fhir:code [ fhir:v "HP:0001888" ] ;
fhir:display [ fhir:v "Haematological - Lymphopenia" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Hématologique - Lymphopénie" ]         ] )       ] [
fhir:code [ fhir:v "HP:0001875" ] ;
fhir:display [ fhir:v "Haematological - Neutropenia" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Hématologique - Neutropénie" ]         ] )       ] [
fhir:code [ fhir:v "HP:0001876" ] ;
fhir:display [ fhir:v "Haematological - Pancytopenia" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Hématologique - Pancytopénie" ]         ] )       ] [
fhir:code [ fhir:v "HP:0001873" ] ;
fhir:display [ fhir:v "Haematological - Thrombocytopenia" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Hématologique - Thrombopénie" ]         ] )       ] [
fhir:code [ fhir:v "HP:0004432" ] ;
fhir:display [ fhir:v "Immunodeficiency - Agammaglobulinemia" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Immunodéficience - Agammaglobulinémie" ]         ] )       ] [
fhir:code [ fhir:v "HP:0005339" ] ;
fhir:display [ fhir:v "Immunodeficiency - Abnormality of complement system" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Immunodéficience - Anomalie du système du complément" ]         ] )       ] [
fhir:code [ fhir:v "HP:0004315" ] ;
fhir:display [ fhir:v "Immunodeficiency - Decreased circulating IgG level" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Immunodéficience - Baisse des IgG sériques" ]         ] )       ] [
fhir:code [ fhir:v "HP:0004430" ] ;
fhir:display [ fhir:v "Immunodeficiency - Severe combined immunodeficiency" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Immunodéficience - Déficit immunitaire combiné sévère" ]         ] )       ] [
fhir:code [ fhir:v "HP:0004313" ] ;
fhir:display [ fhir:v "Immunodeficiency - Decreased antibody level in blood" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Immunodéficience - Hypogammaglobulinémie" ]         ] )       ] [
fhir:code [ fhir:v "HP:0005374" ] ;
fhir:display [ fhir:v "Immunodeficiency - Cellular immunodeficiency" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Immunodéficience - Immmunodéficience cellulaire" ]         ] )       ] [
fhir:code [ fhir:v "HP:0005363" ] ;
fhir:display [ fhir:v "Immunodeficiency - Humoral immunodeficiency" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Immunodéficience - Immunodéficience humorale partielle" ]         ] )       ] [
fhir:code [ fhir:v "HP:0003212" ] ;
fhir:display [ fhir:v "Immunodeficiency - Increased IgE level" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Immunodéficience - Taux d'IgE augmenté" ]         ] )       ] [
fhir:code [ fhir:v "HP:0410243" ] ;
fhir:display [ fhir:v "Immunodeficiency - Abnormal IgM level" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Immunodéficience - Taux d'IgM anormal" ]         ] )       ] [
fhir:code [ fhir:v "HP:0002728" ] ;
fhir:display [ fhir:v "Infections - Chronic mucocutaneous candidiasis" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Infections - Candidose cutanéo-muqueuse chronique" ]         ] )       ] [
fhir:code [ fhir:v "HP:0032101" ] ;
fhir:display [ fhir:v "Infections - Unusual infection" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Infections - Infection inhabituelle" ]         ] )       ] [
fhir:code [ fhir:v "HP:0002719" ] ;
fhir:display [ fhir:v "Infections - Recurrent infections" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Infections - Infections récurrentes" ]         ] )       ] [
fhir:code [ fhir:v "HP:0100806" ] ;
fhir:display [ fhir:v "Infections - Sepsis" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Infections - Sepsis" ]         ] )       ] [
fhir:code [ fhir:v "HP:0200043" ] ;
fhir:display [ fhir:v "Infections - Verrucae" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Infections - Verrue" ]         ] )       ] [
fhir:code [ fhir:v "HP:0001369" ] ;
fhir:display [ fhir:v "Inflammation - Arthritis" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Inflammation - Arthrite" ]         ] )       ] [
fhir:code [ fhir:v "HP:0002583" ] ;
fhir:display [ fhir:v "Inflammation - Colitis" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Inflammation - Colite" ]         ] )       ] [
fhir:code [ fhir:v "HP:0032323" ] ;
fhir:display [ fhir:v "Inflammation - Periodic fever" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Inflammation - Fièvre périodique" ]         ] )       ] [
fhir:code [ fhir:v "HP:0012156" ] ;
fhir:display [ fhir:v "Inflammation - Hemophagocytosis" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Inflammation - Hématophagocytose" ]         ] )       ] [
fhir:code [ fhir:v "HP:0000554" ] ;
fhir:display [ fhir:v "Inflammation - Inflammation of one or all portions of the uveal tract" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Inflammation - Inflammation d'une ou de toutes les parties de l'uvée" ]         ] )       ] [
fhir:code [ fhir:v "HP:0002725" ] ;
fhir:display [ fhir:v "Inflammation - Systemic lupus erythematosus" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Inflammation - Lupus érythémateux disséminé" ]         ] )       ] [
fhir:code [ fhir:v "HP:0009071" ] ;
fhir:display [ fhir:v "Inflammation - Inflammatory myopathy" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Inflammation - Myopathie inflammatoire" ]         ] )       ] [
fhir:code [ fhir:v "HP:0012647" ] ;
fhir:display [ fhir:v "Inflammation - Abnormal inflammatory response" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Inflammation - Réponse inflammatoire anormale" ]         ] )       ] [
fhir:code [ fhir:v "HP:0032154" ] ;
fhir:display [ fhir:v "Inflammation - Aphthous ulcer" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Inflammation - Ulcère aphteux" ]         ] )       ] [
fhir:code [ fhir:v "HP:0002633" ] ;
fhir:display [ fhir:v "Inflammation - Vasculitis" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Inflammation - Vascularite" ]         ] )       ] [
fhir:code [ fhir:v "HP:0001022" ] ;
fhir:display [ fhir:v "Skin and appendages - Albinism" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Peau et phanères - Albinisme" ]         ] )       ] [
fhir:code [ fhir:v "HP:0001595" ] ;
fhir:display [ fhir:v "Skin and appendages - Abnormality of the hair" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Peau et phanères - Anomalie des cheveux/poils" ]         ] )       ] [
fhir:code [ fhir:v "HP:0000924" ] ;
fhir:display [ fhir:v "Skin and appendages - Abnormality of the skeletal system" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Peau et phanères - Anomalie du système squelettique" ]         ] )       ] [
fhir:code [ fhir:v "HP:0010720" ] ;
fhir:display [ fhir:v "Skin and appendages - Abnormal hair pattern" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Peau et phanères - Anormalité de la distribution des cheveux" ]         ] )       ] [
fhir:code [ fhir:v "HP:0000968" ] ;
fhir:display [ fhir:v "Skin and appendages - Ectodermal dysplasia" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Peau et phanères - Dysplasie ectodermique" ]         ] )       ] [
fhir:code [ fhir:v "HP:0000964" ] ;
fhir:display [ fhir:v "Skin and appendages - Eczema" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Peau et phanères - Eczéma" ]         ] )       ] [
fhir:code [ fhir:v "HP:0000988" ] ;
fhir:display [ fhir:v "Skin and appendages - Skin rash" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Peau et phanères - Exanthème" ]         ] )       ] [
fhir:code [ fhir:v "HP:0008404" ] ;
fhir:display [ fhir:v "Skin and appendages - Nail dystrophy" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Peau et phanères - Onychodystrophie" ]         ] )       ] [
fhir:code [ fhir:v "HP:0011002" ] ;
fhir:display [ fhir:v "Skin and appendages - Osteopetrosis" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Peau et phanères - Ostéopétrose" ]         ] )       ] [
fhir:code [ fhir:v "HP:0011362" ] ;
fhir:display [ fhir:v "Skin and appendages - Abnormal hair quantity" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Peau et phanères - Quantité de cheveux anormale" ]         ] )       ] [
fhir:code [ fhir:v "HP:0000164" ] ;
fhir:display [ fhir:v "Skin and appendages - Any abnormality of the teeth" ] ;
        ( fhir:designation [
fhir:language [ fhir:v "fr" ] ;
fhir:value [ fhir:v "Peau et phanères - Toute anomalie des dents" ]         ] )       ] )     ] )
  ] . #