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  • Many of the existing terms have been modeled using "Acquired X (morphologic abnormality)" concepts, which allows them to be sufficiently defined, but results in creation of additional morphology concepts that only differ in the period of life in which they appear. This is analogous to the "Congenital X" morphologies that are being inactivated through remodeling of the Congenital disease subhierarchy. 
  • "Acquired" and "Congenital" are not morphologies, but timeframes.  We currently do not have a way of denoting "All periods of life after birth" like we do for "Congenital".
  • The ability to define acquired disorders might also open the door that all disorders that are normally acquired after birth have an OCCURRENCE relationship added, which seems to be “overmodeling”.  The "Acquired deformity" morphology concepts are incomplete and a suboptimal way to address temporality. 
  • Some diseases, especially those appearing in the neonatal period, may actually be later manifestations of congenital conditions.
  • The application of the proposed modeling pattern would only be applied in situations where there is a specific need to differentiate between congenital and acquired conditions of the same type.

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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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  • Create an intermediate primitive grouper - "Acquired disorder" that would allow subtypes to be fully defined under. These would also classify under the appropriate parent term related to the disorder.
  • Create a "period of life" subtype that included all periods except "fetal, congenital, and neonatal(?) (substantial testing of impacts would be needed)
  • Create a set of "Acquired X (morphologic abnormalities)" to support definition of acquired disorders.

This demonstrates a need to support disjointness, which will hopefully be supported by the concept model in the near future. There are challenges with using period of life as a way to classify these as age ranges fdiffere differ among juridictions. There is also the distinction between hereditary and "congenital", which are often conflated in disease naming. Hereditary issue that the designation of a period of life in an FSN does not always reflect the period of life in which the orign and manifestation are identified. For example, hereditary diseases often manifest later in life. Would these be considered "acquired"Congenital", "Acquired", both? What do we mean when we say "acquired"?

It would be prudent to limit the use of the period of life grouper to necessity, i.e. for only those disease where the FSN specifies "acquired" . However, would diseases that manifest later in life but are actually genetic be incorrectly classified under acquired disorder? What is the  advantage of this or a need to specify a distinction between congenital and acquired forms of a disorder. What would be the  advantage of a top level grouper "Acquired disorder"? The challenge is how to represent the acquisition/origin of the trait as opposed to the clinical manifestation of the trait., or if that distinction is needed.  For non-semantically decomposable FSNs, it is more important to get the modeling correct than change the idiom. 

3. Additional issues identified  

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Many of the affected concepts are not modeled according to the pattern shown in the solution section below. These will be editied to conform to the proposed pattern.

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

4. Solution 

  • A new qualifier value of "Post-natal" will be created to aggregate the periods of life that would be used to define "Acquired" conditions.
  • Move the following concepts under “Postnatal period”:
    • Adolesence
    • Adulthood
    • Childhood
    • Infancy
    • Old age
  • All concepts that current explicitly state "acquired" in their FSN would have a new relationship OCCURRENCE = Post-natal period (qualifier value) 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 resutling , 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”.

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5. Construction 

The attached file is a listing of the concepts present in the 20180131 release if 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".  What are the advantages disadvantages of including it in this remodelingGiven 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.
  • Add new body structure “Musculoskeletal structure of forearm (body structure)”
  • 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?There are some duplicate concepts that need to be resolved (e.g.

6. Transition phase 

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