Remove all current Implication profiles except abstract base, add 2 new profiles restructuring our current components and codes as Diagnostic Implication and Therapeutic Implication
Genomic Implication Profile
Extension: RelatedArtifact (0..*)
derivedFrom (reference: Observation/Variant/Haplotype/Genotype) (1..*)
Component: 93044-6 | Level of Evidence / “clinical validity” (0..1)
Binding*:* LOINC Answer List LL5356-2 (preferred)
Component: TBD code | prognosis (0..1)
E.g. Better outcome, poorer outcome
Binding*:* (unbound) (example)
Diagnostic Implication Profile
code: TBD code | Diagnostic implication
Value 0..0
Component: 53037-8 | LL4034-6 (clinical significance) (0..1)
Pathogenic | Likely pathogenic | Uncertain significance | Likely benign | Benign
Binding*:* LOINC Answer List LL4034-6 (extensible)
Component: 81259-4 | (Associated phenotype) (0..*)
Binding*:* (unbound) (example)
Component: TBD code | (Associated cancer) (0..*)
Binding*:* (unbound) (example)
Component 79742-3 | LL3731-8 (Mode of inheritance) (0..1)
Autosomal dominant|Autosomal recessive|X-linked dominant|X-linked recessive|Y-linked|Codominant|Mitochondrial
Binding: LOINC Answer List LL3731-8 (preferred)
Therapeutic Implication Profile
code: TBD | Therapeutic implication
Value 0..0
Component: 81259-4 | (Associated phenotype) (0..*)
Binding*:* (unbound) (example)
Component: TBD code | (Associated cancer) (0..*)
Binding*:* (unbound) (example)
Component: 51963-7 | (medication-assessed) (0..*)
Binding*:* (unbound) (example)
Component: TBD | (therapy-assessed) (0..*)
Binding*:* (unbound) (example)
Component: 53040-2 | (effect-medication-metabolism) (0..1)
Ultrarapid metabolizer | Rapid metabolizer | Normal metabolizer | Intermediate metabolizer | Poor metabolizer
Binding*:* LOINC Answer List LL3856-3 (preferred)
Component: 83009-1 | (effect-medication-high-risk) (0..1)
Low risk | High risk
Binding*:* LOINC Answer List LL2353-2 (extensible)
Component: TBD | (effect-medication-transporter) (0..1)
Increased function | Normal function | Decreased function | Poor function
Binding*:* (unbound) (example)
Component: 51961-1 | LL3856-3 (effect-medication-efficacy) (0..1)
Resistant | Responsive | Presumed resistant | Presumed responsive | Unknown significance | Non-Responsive | Presumed non-responsive
Binding*:* LOINC Answer List LL539-8 (preferred)