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I want to find an ontology, or any other mechanism for that matter, that can give me synonyms for different diseases. A common example is congestive heart failure, congestive cardiac failure, chf and ccf all stand for the same thing and have one entry in disease DBs like snomed or ICD9/10.

I have already looked into some ontologies at bioportal and obofoundry but they do not have synonyms that actually Doctors use, rather the synonyms are gathered from different dictionaries.

So in a nutshell, what is the best way to gather a lot of synonyms for diseases so that I can use it in my java program?

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3 Answers

Well, there’s the Human Disease Ontology which can be queried online at the Ontology Lookup Service or at Disease Ontology – the latter is quite an interesting web interface with a neat interactive, graphical representation while the former is more conventional and geared towards automated queries.

For your example of “congestive heart failure” (DOID:395), the DO yields the following synonyms:

[preferred name] rheumatic congestive heart failure
Rheumatic heart failure [MTHICD9_2006:398.91]
Congestive rheumatic heart failure (disorder) [SNOMEDCT_2005_07_31:82523003]
Rheumatic heart failure (congestive) [ICD9CM_2006:398.91]

However, since the DO is also listed at Bioportal you might already be aware of it …

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You are right I have already seen this Ontology, I am working with lot's of hand typed/transcribed data and most common synonyms are not even here. For example Congestive Heart Failure can be transcribed as, heart failure, CHF, congestive cardiac failure, CCF etc. I think I will also ask this question on HealthCareIT –  Grrrrr Jan 19 '12 at 7:45
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There is a disease ontology project here that may be of interest to you (sorry, I never used it, so I cannot comment on whether it is good or not).

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SNOMED CT is another option. Synonyms is just one part of what it offers. For your example it provides:

  • 70653017 | congestive heart failure
  • 70654011 | congestive heart disease
  • 493289014 | CHF - Congestive heart failure
  • 493288018 | CCF - Congestive cardiac failure
  • 493287011 | congestive cardiac failure

The official way of representing acronyms is a bit awkward (requires the expanded term) however it's intended to avoid misunderstanding and for search purposes is adequate.

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Will SNOMED CT have reference to ICD as well? I mean with all these synonyms does it have the information about what does it map to in ICD-9 or ICD-10 db? –  Grrrrr Feb 15 '12 at 6:47
There are mappings to ICD for example. Though SNOMED CT & ICD have different purposes, so care is needed in how you use the mapping.. –  DougF Feb 23 '12 at 2:04
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