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