HL7 Terminology (THO)
5.5.0 - Continuous Process Integration (ci build)
HL7 Terminology (THO)
5.5.0 - Continuous Process Integration (ci build)
HL7 Terminology (THO), published by HL7 International - Vocabulary Work Group. This guide is not an authorized publication; it is the continuous build for version 5.5.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/UTG/ and changes regularly. See the Directory of published versions
| Official URL: http://terminology.hl7.org/NamingSystem/HPO | Version: 1.0.0 | |||
| Active as of 2022-06-02 | Computable Name: HPO | |||
“The Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities encountered in human disease. Each term in the HPO describes a phenotypic abnormality, such as Atrial septal defect. The HPO is currently being developed using the medical literature, Orphanet, DECIPHER, and OMIM. HPO currently contains over 13,000 terms and over 156,000 annotations to hereditary diseases. The HPO project and others have developed software for phenotype-driven differential diagnostics, genomic diagnostics, and translational research. The HPO is a flagship product of the Monarch Initiative, an NIH-supported international consortium dedicated to semantic integration of biomedical and model organism data with the ultimate goal of improving biomedical research. The HPO, as a part of the Monarch Initiative, is a central component of one of the 13 driver projects in the Global Alliance for Genomics and Health (GA4GH) strategic roadmap.”
Please see https://hpo.jax.org/app/download/ontology.
Releases, produced approximately every 2 months, can be found here.
| Defining URL | http://terminology.hl7.org/NamingSystem/HPO |
| Version | 1.0.0 |
| Name | HPO |
| Title | Human Phenotype Ontology |
| Status | active |
| Definition | "The Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities encountered in human disease. Each term in the HPO describes a phenotypic abnormality, such as Atrial septal defect. The HPO is currently being developed using the medical literature, Orphanet, DECIPHER, and OMIM. HPO currently contains over 13,000 terms and over 156,000 annotations to hereditary diseases. The HPO project and others have developed software for phenotype-driven differential diagnostics, genomic diagnostics, and translational research. The HPO is a flagship product of the Monarch Initiative, an NIH-supported international consortium dedicated to semantic integration of biomedical and model organism data with the ultimate goal of improving biomedical research. The HPO, as a part of the Monarch Initiative, is a central component of one of the 13 driver projects in the Global Alliance for Genomics and Health (GA4GH) strategic roadmap." Please see https://hpo.jax.org/app/download/ontology. Releases, produced approximately every 2 months, can be found here. |
| Type | Value | Preferred | Period | Comment |
| URI | http://human-phenotype-ontology.org | true | 2022-06-02 --> (ongoing) | This is the URL as specified by the terminology owner, and is considered authoritative. |
| OID | 2.16.840.1.113883.6.339 | true | ||
| URI | http://purl.obolibrary.org/obo/hp.owl | false | 2022-06-02 --> (ongoing) |
History
| Date | Action | Custodian | Author | Comment |
| 2022-09-02 | create | HTA | Jessica Bota | Add Human Phenotype Ontology per HTA; up-338 |
IG © 2020+ HL7 International - Vocabulary Work Group. Package hl7.terminology#5.5.0 based on FHIR 4.0.1. Generated 2024-03-11
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