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Table 4 Five examples of potential missing concepts validated by the UMLS

From: Logical definition-based identification of potential missing concepts in SNOMED CT

Missing concept FSN

Missing concept logical definitions

Mapped UMLS atom name/AUI/CUI

Primary cerebellar neoplasm (disorder)

{(Is a, “Neoplasm of cerebrum (disorder)”)}

Primary Cerebellar Neoplasm/A1639672(MSH)/C0750998

 

{(Finding site (attribute), “Structure of cerebrum (body structure)”),

 
 

(Associated morphology (attribute), “Neoplasm (morphologic abnormality)”)}

 

Cutaneous infection (disorder)

{(Is a, “Infection of skin (disorder)”)}

Cutaneous infections/A24682086(HPO)/C1853193

 

{(Finding site (attribute), “Skin structure (body structure)”),

 
 

(Associated morphology (attribute),

 
 

Morphologically abnormal structure (morphologic abnormality)”)}

 
 

{(Finding site (attribute), “Skin structure (body structure)”),

 
 

(Pathological process (attribute), “Infectious process (qualifier value)”)}

 

Congenital anomaly of lacrimal apparatus (disorder)

{(Is a, “Congenital anomaly of lacrimal system (disorder)”)}

congenital anomalies of lacrimal apparatus/A21020760(MEDCIN)/C3509790

 

{(Finding site (attribute), “Structure of lacrimal apparatus (body structure)”),

 
 

(Associated morphology (attribute),

 
 

Morphologically abnormal structure (morphologic abnormality)”),

 
 

(Occurrence (attribute), “Congenital (qualifier value)”),

 
 

(Pathological process (attribute),

 
 

Pathological developmental process (qualifier value)”)}

 

Lesion of foot (disorder)

{(Is a, “Disorder of foot (disorder)”)}

lesions feet/A13728295(MEDCIN)/C0744147

 

{(Finding site (attribute), “Foot structure (body structure)”),

 
 

(Associated morphology (attribute), “Lesion (morphologic abnormality)”)}

 

Injury of jugular vein (disorder)

{(Is a, “Injury to blood vessel of neck (disorder)”)}

injury of jugular vein/A27160412(MEDCIN)/C0347703

 

{(Is a, “Injury of systemic vein (disorder)”)}

 
 

{(Finding site (attribute), “Structure of jugular vein (body structure)”}

 
 

{(Finding site (attribute), “Structure of vein of neck (body structure)”),

 
 

(Associated morphology (attribute), “Damage (morphologic abnormality)”)}