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serverIHTSDO JIRA
columnskey,summary,type,created,updated,due,assignee,reporter,priority,status,resolution
serverIdb202d822-d767-33be-b234-fec5accd5d8c
keyIHTSDO-1059

Document review link: JIRA IHTSDO-1059 (artf6853) Acquired Finding or Disorder Documentation Review

Release used for analysis: 

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Status

Draft

Version0.15
Date2018021420180226


Table of Contents
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Related IssuesComment
 PCP-201 <disorder> acquired in <environment or geographical location> Out of scope for this project as it adds another dimension, i.e. the location of the acquisition.
 IHTSDO-1047 healthcare associated infection vs nosocomial infection vs hospital acquired infection Partially addressed by this project as these are all acquired conditions
IHTSDO-300 artf6288-definition and clarification of familial, genetic, and inherited, plus congenital / acquired and relatedPartially addressed by this project, gereditary hereditary and genetic diseases out of scope


c. Scope of project

The scope of this project is the approximately 770 existing concepts that contain the string "acquired" in the FSN.  There is no intent to apply the congenital or acquired occurrences to any (set) of concepts where the distinction is not explicitly needed (i.e parsimonious application of the OCCURRENCE attribute). Conversely, the addition of the OCCURRENCE attribute will only be added in situations where it is needed to make explicit distinction between congenital and acquired (or age specific) forms for clinical reasons.

2. Analysis of Issue 

Acquired conditions are those which originate and manifest after birth.  Since this relates to a period of life as opposed to a specific process or structure, all diseases that occur after birth may be considered to be acquired.  According to the American medical association, the periods of life that are included under the "postnatal period" include all periods after birth including the neonatal or immediate postpartum period. Diseases that manifest during the neonatal period of life are challenging since the inciting cause may be present at birth, the clinical manifestation may take a day or two to appear (e.g. Neonatal isoimmune neutropenia). 

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Concepts using the term "neonatal" much must be indiviudally and carefully curated to ensure that the correct origin of the disorder is assigned.

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  • A new qualifier value of "Post-natalPeriod of life beginning after birth and ending before death (qualifier value)" will be created to aggregate the periods of life that would be used to define "Acquired" conditions.
  • Move the following concepts under “Postnatal period”this new grouper:
    • Adolesence
    • Adulthood
    • Middle age
    • Childhood
    • Infancy
    • Old age
  • All concepts that current explicitly state "acquired" in their FSN or in a "synonym" would have a new relationship "OCCURRENCE = Post-natal period Period of life beginning after birth and ending before death (qualifier value) added " added to the defining relationship group(s), if an OCCURRENCE relationship does not already exist.  This will allow many of the currently primitive concepts to become sufficiently defined, resulting in a richer set of inferences.
  • When revising modeling of acquired disorders, remove any “Acquired” morphologies and replace with general parent morphology.  E.g. Replace “acquired deformity” with “deformity”.
  • As the use of the "Acquired X (morphologic abnormality)" concepts is eliminated, inactive the morphology concepts.

The general pattern for revising the affected concepts is shown in the diagram below:

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5. Construction 

The attached file is a listing of the affected concepts present in the 20180131 release if of SNOMED International:

https://docs.google.com/spreadsheets/d/1K1LhTklXJl8GhRGMN6G6j3xuX3HfGa7UoQS-0hiBRB8/edit?usp=sharing



Some identified issues;

  • Most definitions include the neonatal period in definitions of "Postnatal period"acquired disorders.  Given the variable use of the term to represent disorders occurring both antenatally as well as the clinical manifestation of genetic/hereditary diseases, these will need to be researched individually for the correct assignment.
  • Some disorders that are developmental but manifest later in life are currently classified as acquired. AMA definition excludes genetic diseases even if manifesting later in life.
  • Missing some “musculoskeletal structure of X” concepts for deformities
  • Due to existence of primitive concepts, there is a need to inactivate duplicates that arise when the standard pattern is assigned.  For example:
    • 367335002 - Claw hand - acquired (finding) DUPLICATE TO 367393006 - Acquired claw hand (disorder)
    • Acquired forearm deformity, excluding fingers DUPLICATE to “Acquired forearm deformity" as the fingers are not anatomically part of the forearm.
    • Inactivate 45402003 – Juvenile disease (finding) as ambiguous.
  • Periods of life assignment where the onset is at one stage of life but persists throughout the rest of life. How to assign OCCURRENCE?
  • Some concepts contain the phase "congenital OR acquired".  Inactivate and replace?

6. Transition phase 

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