2015May core #1360 - Define level

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    • Type: Change Request
    • Resolution: Persuasive
    • Priority: Medium
    • FHIR Core (FHIR)
    • DSTU1 [deprecated]
    • Clinical Genomics
    • Observation
    • 4.20.21.1
    • Hide

      Allelic state:

      The level of occurrence of a single DNA Sequence Variation within a set of chromosomes. Heterozygous indicates the DNA Sequence Variation is only present in one of the two genes contained in homologous chromosomes. Homozygous indicates the DNA Sequence Variation is present in both genes that are contained in homologous chromosomes. Hemizygous indicates that the DNA Sequence Variation exists in the only single copy of a gene in a non- homologous chromosome (the male X and Y chromosome are non-homologous). Hemiplasmic indicates that the DNA Sequence Variation is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Sequence Variation is present in all of the copies of mitochondrial DNA.

      Here is the loinc answer List for Allelic state:

      1. Heteroplasmic (LA6703-8)

      2. Homoplasmic (LA6704-6)

      3. Homozygous (LA6705-3)

      4. Heterozygous (LA6706-1)

      5. Hemizygous (LA6707-9)

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      Allelic state: The level of occurrence of a single DNA Sequence Variation within a set of chromosomes. Heterozygous indicates the DNA Sequence Variation is only present in one of the two genes contained in homologous chromosomes. Homozygous indicates the DNA Sequence Variation is present in both genes that are contained in homologous chromosomes. Hemizygous indicates that the DNA Sequence Variation exists in the only single copy of a gene in a non- homologous chromosome (the male X and Y chromosome are non-homologous). Hemiplasmic indicates that the DNA Sequence Variation is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Sequence Variation is present in all of the copies of mitochondrial DNA. Here is the loinc answer List for Allelic state: 1. Heteroplasmic (LA6703-8) 2. Homoplasmic (LA6704-6) 3. Homozygous (LA6705-3) 4. Heterozygous (LA6706-1) 5. Hemizygous (LA6707-9)
    • Gil Alterovitz/ Grant Wood: 2-0-0
    • Clarification
    • Non-substantive

      Existing Wording: Level of occurance of te DNA variation in relation to the genomic context

      Proposed Wording: Please specify the definition of the term "level" that is being used here.

      Comment:

      The meaning of the "level of occurrence of the DNA variation" needs to be defined, please.

            Assignee:
            Unassigned
            Reporter:
            perry_mar
            Watchers:
            2 Start watching this issue

              Created:
              Updated:
              Resolved: