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Table 3 Descriptive statistics on the origin of CTX ontology concepts

From: Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of cerebrotendinous xanthomatosis

 

HPO Concept #

SNOMED CT Concept #

New Concept #

Phenotype

153

17

6

Anatomical Structure

0

42

0

Diagnostic Study

0

30

0

Qualifier Value

0

31

0

Total

153

120

6

 

(55 %)

(43 %)

(2 %)

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BMC Medical Informatics and Decision Making

ISSN: 1472-6947

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