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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 %)