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HPO to SNOMED mapping - the objectives

  1. The objectives was to produce a mapping

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  1. to a fully logically defined

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  1. SNOMED target, so that if a direct map to a SNOMED concept was not available, an expression was constructed using Compositional Grammar and post-coordination. The map produced would then be used during configuration of healthcare systems or in an expression repository.


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Above is an illustration of the structure and components of an expression, including the focus concept, attributes and attribute value.

HPO to SNOMED Cross Mapping - the results

Based on the HPO release of August 2024, and the SNOMED International release of April 2024, the mapping results are given below.

Note that 86% of the HPO terms are mappable either directly (42%) or

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by using an expression

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(7950, 45%) and the missing 13% could potentially be reduced with new SNOMED content.

The expressions have been validated using the Post-coordination Demonstrator resource. (

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Examples of post-coordination

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HPO concept

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SNOMED post-coordinated expression

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1

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HP:0001525 Severe failure to thrive

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54840006 |Failure to thrive (disorder)|:

{246112005 |Severity (attribute)|=24484000 |Severe (severity modifier) (qualifier value)|}

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approx (45%)

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2

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HP:0004363 Abnormal circulating calcium concentration.

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1217344005 |Finding of blood substance level (finding)|:

{363713009 |Has interpretation (attribute)| =394844007 |Outside reference range (qualifier value)|,

363714003 |Interprets (attribute)| =312472004 |Blood calcium measurement (procedure)|}

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approx 30%

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3

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HP:6000554 Positive bloodstream plasmodium falciparum nucleic acid pathogen test.

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434156008 |Infectious agent in bloodstream (finding)|:

{363713009 |Has interpretation (attribute)| = 10828004 |Positive (qualifier value)|, 363714003 |Interprets (attribute)| =

(398545005 |Nucleic acid assay (procedure)|:

246093002 |Component (attribute)| =708396002 |Deoxyribonucleic acid of Plasmodium falciparum (substance)|,

370129005 |Measurement method (attribute)|=444077007 |Analysis using reverse transcriptase polymerase chain reaction technique (procedure)|)}

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