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StatusIn PROD
Version

1.0

Descriptions: 

Termdescription typeLanguage/acceptabilityLanguage/acceptabilityCase significance[
[Periods of life][Clinical course] muscular dystrophy (disorder)FSNus:Pgb:Pci
[Periods of life][Clinical course] muscular dystrophySYNus:Pgb:Pci


Concept model:

Definition status:  


900000000000073002 |Defined|

Applies To:

<<  73297009 | Muscular dystrophy (disorder)|  

Template language:


782964007 |Genetic disease (disorder)|  : [[~1..*]] {[[~1..1]]    263502005 |Clinical course (attribute)|    =  255314001 |Progressive (qualifier value)| } , [[~1..* @rolegroup]]{ [[~1..1]]  116676008 |Associated morphology (attribute)|  = [[+id(<<  4720007 |Dystrophy (morphologic abnormality)|  ) @morphology ]], [[~1..1]]  363698007 |Finding site (attribute)|  = [[+id(<<  127954009 |Skeletal muscle structure (body structure)|  )]], [[~0..1]]  246454002 |Occurrence (attribute)|  = [[ +id(<  282032007 |Periods of life (qualifier value)|  ) @occur]], [[~1..1]]  370135005 |Pathological process (attribute)|  =  308490002 |Pathological developmental process (qualifier value)| }

Rules for description generation: 

  1. Apply General rules for generating descriptions for templates;
  2. Apply Enhancements for the Template Language;

JIRA ticket: 

Main developmental disorders ticket:  QI-83 - Getting issue details... STATUS

INFRA-6241 - Getting issue details... STATUS

Reports:

Initial analysis:https://docs.google.com/spreadsheets/d/1Fwa-dfjFiupyPx4CDux5RxarKbDp9CeqEY923D_UlRw/edit?usp=sharing

Misaligned: https://docs.google.com/spreadsheets/d/14p8aV253B74yc0y3D6eY2Wjzw2hgXd1sB4ZTpD1Du30/edit?usp=sharing

9 Comments

  1. Yongsheng Gao - template for review. Cheers, Cathy

  2. Hi Yongsheng Gao

    I have noticed several discrepancies between the Concept Model and the Template Language. The differences are: 

    • 263502005 |Clinical course (attribute)| => CM has a role group cardinality of 1..1 whereas the TL has a role group cardinality of 1..*.
    • 116676008 |Associated morphology (attribute)| => CM has an attribute cardinality of 0..1 whereas the TL has an attribute cardinality of 1..1.
    • 370135005 |Pathological process (attribute)| => The value in the CM has no descendants whereas the TL has <<.

    However, with Peter G. Williams's help, I have changed the Template Language to be what we suspect is correct. Do you agree with the new template, and if so, it will be the template we implement. 

    The new template: 

    782964007 |Genetic disease (disorder)|: [[~1..1]] { [[~1..1]] 263502005 |Clinical course (attribute)| = [[+id (255314001 |Progressive (qualifier value)|) @course]] }, [[~1..* @rolegroup]] { [[~1..1]] 116676008 |Associated morphology (attribute)| = [[+id(<< 4720007 |Dystrophy (morphologic abnormality)|) @morphology ]], [[~1..1]] 363698007 |Finding site (attribute)| = [[+id(<< 127954009 |Skeletal muscle structure (body structure)|) @bodyStructure]], [[~0..1]] 246454002 |Occurrence (attribute)| = [[ +id(< 282032007 |Periods of life (qualifier value)|) @periodsOfLife]], [[~1..1]] 370135005 |Pathological process (attribute)| = [[+id(308490002 |Pathological developmental process (qualifier value)|) @process ]] }

    Reasons for the new template: 

    • There are no Concepts with multiple Clinical courses within the 73297009 |Muscular dystrophy (disorder)| domain. This is confirmed by the ECL: '<< 73297009 |Muscular dystrophy (disorder)| : [2..*] 263502005 |Clinical course (attribute)| = *'. Therefore, the 1..1 cardinality has been chosen. 
    • The children of 73297009 |Muscular dystrophy (disorder)| will inherit from 4720007 |Dystrophy (morphologic abnormality)|, therefore, the associated morphology has been made mandatory. 
    • 308490002 |Pathological developmental process (qualifier value)| has no descendants and so the descendants query has been removed. 
    1. Hi Darryn McGaw, the cardinality should be [1..1]. The associated morphology should be [1..1] and pathology process is okay with << and this will include any future subtype. Since we cannot assign default value (which will be in the new draft template language), let's change it to = to have the default single value. I have updated the model and template language. 

      Peter G. Williams , Could you improve the parser that can ignore the new line break ASAP? Then we can format the template language in the same order and format as the model. It will avoid missing these mismatches. At the moment, it is hard to read the template language. 

      1. Thank you for confirming that Yongsheng Gao

      2. Yes I've got that line break issue down for early next week.


  3. One comment. I think the finding site value should be 870435006 |Structure of striated muscle (body structure)| as cardiac muscle is frequently involved in MD.

  4. Hi Yongsheng Gao, please see Bruce's comment above. Since this has not gone into production I am assuming I can broaden the finding site, or do I need a new version of the template? Thanks, Cathy. 

    1. Hi Cathy Richardson I have posted the question to the technical team in the TBBA-442


  5. Template updated given comments on  TBBA-442 - Getting issue details... STATUS Yongsheng Gao FYI.