Skip to main content

Table 2 Coverage of relevant CTX terminology in Snomed CT, HPO and PATO

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

 

Disorders & Abnormalities (Concept #)

Anatomical Structures (Concept #)

Diagnostic Studies (Concept #)

Qualifier Values (Concept #)

Snomed CT

56

6

11

11

(93.3 %)

(100 %)

(92 %)

(73.3 %)

HPO

50

----

----

-----

(83.3 %)

   

PATO

----

----

----

5

   

(33.3 %)

Total

60

6

12

15

 

(100 %)

(100 %)

(100 %)

(100 %)