Page tree

Descriptions:

Termdescription typeLanguage/acceptabilityLanguage/acceptabilityCase significance
Thalassemia (disorder)FSNus:Pgb:Pci
ThalassemiaSYNus:Pgb:Pci

Concept model:

Attribute cardinalityAttributeValueRole group numberRole group cardinality
1..10N/A


1..10
1..111..1
0..11
1..11
1..1
20..1
1..1

281300000 |Below reference range (qualifier value)|


2
1..1

441689006 |Measurement of total hemoglobin concentration (procedure)|

30..1
1..13
1..140..1
1..14
1..150..1
1..15
1..160..1
1..16

Definition status:  


900000000000074008 |Not sufficiently defined by necessary conditions definition status (core metadata concept)|

Applies to

<< 271737000 |Anemia (disorder)|

Template Language

116223007 |Complication (disorder)|  : [[~0..1]]   263502005 |Clinical course (attribute)|   = [[ +id (<   288524001 |Courses (qualifier value)|   ) @course]] , [[~1..1]]  42752001 |Due to (attribute)|  = [[+id (<<  64572001 |Disease (disorder)|  OR <<  71388002 |Procedure (procedure)| ) @dueto ]], [[~1..1 @rolegroup]]{ [[~0..1]]   116676008 |Associated morphology (attribute)|   = [[+id(<<  49755003 |Morphologically abnormal structure (morphologic abnormality)|   ) @morphology ]], [[~0..1]]   363698007 |Finding site (attribute)|   = [[+id(<   123037004 |Body structure (body structure)|   )]], [[~0..1]]   246454002 |Occurrence (attribute)|   = [[ +id(<   282032007 |Periods of life (qualifier value)|   ) @occur]], [[~0..1]]   370135005 |Pathological process (attribute)|   = [[ +id ( <   308489006 |Pathological process (qualifier value)|   ) @proc]], [[~0..1]]   246075003 |Causative agent (attribute)|   = [[ +id (<   410607006 |Organism (organism)|   OR <   105590001 |Substance (substance)|   OR <   78621006 |Physical force (physical force)|  OR <   260787004 |Physical object (physical object)|   ) @causative]] }

Link to the misaligned concept report

Due to Disease - https://docs.google.com/spreadsheets/d/1I_Bv8OZAFwikvpGorX03XqKplzbCdsrxIi4UG6u85AQ/edit#gid=0

Due to Disease or Procedure - https://docs.google.com/spreadsheets/d/10P1850T9c8PtmKL4EfiGEPZDSgbf6WFdDFckl1Xixzw/edit#gid=0

Rules for generating descriptions:

  1. Apply General rules for generating descriptions for templates
  • No labels

3 Comments

  1. Bruce Goldberg,

    The definition status seems to indicate that no concepts that comply with this template would be sufficiently defined.  Is that intended?  If so, then what is the benefit of the template if the entire subhierarchy is primitive?

    What are the links to misaligned concept report for as there is no DUE TO relationship in the template?

    Is the Applies to concept correct?  


    1. Jim Case

      I created this template as an illustration of how difficult it might be to not only define anemia but also subtypes of anemia. Nonetheless, I think it is possible to SD thalassemia. The defining characteristic of thalassemia is decreased synthesis of alpha or beta globins. All subtypes of thalassemia can be defined using one of these. One would need to define these characteristics by either creating alpha/beta globin synthesis observables or by creating new pathological processes or by creating primitive Disorder of alpha/beta chain synthesis concepts. The top level Thalssemia disorder could then be modeled with GCIs. I can test this but with 68 descendants is the juice worth the squeeze?

      Bruce

      1. Bruce Goldberg,

        The determination of whether a template is needed here is a difficult one to make.  While 68 concepts is borderline as enough to warrant the efforts needed to being a template into production, the benefit of having one is to ensure consistency in the representation of the modeling of the existing concepts and provide a pattern for any additional thalassemia concepts that might arise in the future.  Can we ensure consistency without a template?  Are we likely to see more subtypes added in the future?  Can we increase the number of SD concepts in this area by using a template? 

        If we were to try and SD Thalassemia, I would opt for the observable route over a new pathological process, but that is a gut feeling.  If we cannot come up with a good way to sufficiently define Thalassemia, then there is no need for a template IMHO, as most of the subtypes would also remain primitive.