Notice
- Important: This guidance is under active development by NHS England and content may be added or updated on a regular basis.
- This Implementation Guide is currently in Draft and SHOULD NOT be used for development or active implementation without express direction from the NHS England Genomics Unit.
HPO Terms
This page is a placeholder for HPO term mappings from the MDS. Currently only 'PCI-6 - Phenotypic details' has been identified as requiring HPO terms, recorded as Observations with codes from the Human Phenotype Ontology. Guidance regarding use of HPO as opposed to SNOMED CT concepts is pending Terminology input.
HPO terms are recorded as being either Absent or Present, this is represented within FHIR by the HPO term being recorded in Observation.code.coding.code, with the Absent/Present status being recorded as Observation.valueBoolean set as false or true respectively.
For any Observations using HPO codes, the Observation.code.coding.system SHALL be fixed to http://human-phenotype-ontology.org