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
| Official URL: http://fhir.cqgc.ferlab.bio/ValueSet/eidi-default-hpo | Version: 0.1.0 | |||
| Active as of 2025-08-21 | Computable Name: eidi-default-hpo | |||
Inborn errors of immunity default clinical signs (HPO code)
References
This value set is not used here; it may be used elsewhere (e.g. specifications and/or implementations that use this content)
http://purl.obolibrary.org/obo/hp.owl| Code | Display | French (fr) |
| HP:0011100 | Miscellaneous - Intestinal atresia | Divers - Atrésie intestinale |
| HP:0002960 | Miscellaneous - Autoimmunity | Divers - Auto-immunité |
| HP:0002206 | Miscellaneous - Pulmonary fibrosis | Divers - Fibrose pulmonaire |
| HP:0001263 | Miscellaneous - Global developmental delay | Divers - Retard de développement global |
| HP:0005575 | Miscellaneous - Hemolytic-uremic syndrome | Divers - Syndrome hémolytique et urémique |
| HP:0001878 | Haematological - Hemolytic anemia | Hématologique - Anémie hémolytique |
| HP:0001888 | Haematological - Lymphopenia | Hématologique - Lymphopénie |
| HP:0001875 | Haematological - Neutropenia | Hématologique - Neutropénie |
| HP:0001876 | Haematological - Pancytopenia | Hématologique - Pancytopénie |
| HP:0001873 | Haematological - Thrombocytopenia | Hématologique - Thrombopénie |
| HP:0004432 | Immunodeficiency - Agammaglobulinemia | Immunodéficience - Agammaglobulinémie |
| HP:0005339 | Immunodeficiency - Abnormality of complement system | Immunodéficience - Anomalie du système du complément |
| HP:0004315 | Immunodeficiency - Decreased circulating IgG level | Immunodéficience - Baisse des IgG sériques |
| HP:0004430 | Immunodeficiency - Severe combined immunodeficiency | Immunodéficience - Déficit immunitaire combiné sévère |
| HP:0004313 | Immunodeficiency - Decreased antibody level in blood | Immunodéficience - Hypogammaglobulinémie |
| HP:0005374 | Immunodeficiency - Cellular immunodeficiency | Immunodéficience - Immmunodéficience cellulaire |
| HP:0005363 | Immunodeficiency - Humoral immunodeficiency | Immunodéficience - Immunodéficience humorale partielle |
| HP:0003212 | Immunodeficiency - Increased IgE level | Immunodéficience - Taux d'IgE augmenté |
| HP:0410243 | Immunodeficiency - Abnormal IgM level | Immunodéficience - Taux d'IgM anormal |
| HP:0002728 | Infections - Chronic mucocutaneous candidiasis | Infections - Candidose cutanéo-muqueuse chronique |
| HP:0032101 | Infections - Unusual infection | Infections - Infection inhabituelle |
| HP:0002719 | Infections - Recurrent infections | Infections - Infections récurrentes |
| HP:0100806 | Infections - Sepsis | Infections - Sepsis |
| HP:0200043 | Infections - Verrucae | Infections - Verrue |
| HP:0001369 | Inflammation - Arthritis | Inflammation - Arthrite |
| HP:0002583 | Inflammation - Colitis | Inflammation - Colite |
| HP:0032323 | Inflammation - Periodic fever | Inflammation - Fièvre périodique |
| HP:0012156 | Inflammation - Hemophagocytosis | Inflammation - Hématophagocytose |
| HP:0000554 | Inflammation - Inflammation of one or all portions of the uveal tract | Inflammation - Inflammation d'une ou de toutes les parties de l'uvée |
| HP:0002725 | Inflammation - Systemic lupus erythematosus | Inflammation - Lupus érythémateux disséminé |
| HP:0009071 | Inflammation - Inflammatory myopathy | Inflammation - Myopathie inflammatoire |
| HP:0012647 | Inflammation - Abnormal inflammatory response | Inflammation - Réponse inflammatoire anormale |
| HP:0032154 | Inflammation - Aphthous ulcer | Inflammation - Ulcère aphteux |
| HP:0002633 | Inflammation - Vasculitis | Inflammation - Vascularite |
| HP:0001022 | Skin and appendages - Albinism | Peau et phanères - Albinisme |
| HP:0001595 | Skin and appendages - Abnormality of the hair | Peau et phanères - Anomalie des cheveux/poils |
| HP:0000924 | Skin and appendages - Abnormality of the skeletal system | Peau et phanères - Anomalie du système squelettique |
| HP:0010720 | Skin and appendages - Abnormal hair pattern | Peau et phanères - Anormalité de la distribution des cheveux |
| HP:0000968 | Skin and appendages - Ectodermal dysplasia | Peau et phanères - Dysplasie ectodermique |
| HP:0000964 | Skin and appendages - Eczema | Peau et phanères - Eczéma |
| HP:0000988 | Skin and appendages - Skin rash | Peau et phanères - Exanthème |
| HP:0008404 | Skin and appendages - Nail dystrophy | Peau et phanères - Onychodystrophie |
| HP:0011002 | Skin and appendages - Osteopetrosis | Peau et phanères - Ostéopétrose |
| HP:0011362 | Skin and appendages - Abnormal hair quantity | Peau et phanères - Quantité de cheveux anormale |
| HP:0000164 | Skin and appendages - Any abnormality of the teeth | Peau et phanères - Toute anomalie des dents |
Expansion from tx.ontoserver.csiro.au based on codesystem hp.owl version20221005
This value set contains 45 concepts
Explanation of the columns that may appear on this page:
| Level | A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies |
| System | The source of the definition of the code (when the value set draws in codes defined elsewhere) |
| Code | The code (used as the code in the resource instance) |
| Display | The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application |
| Definition | An explanation of the meaning of the concept |
| Comments | Additional notes about how to use the code |