Id2.16.840.1.113883.10.20.20.9.11Effective Date2013‑02‑01
Statusfinal FinalVersion Label
NameGeneticdiseasesequencevariationinterpretationDisplay NameGenetic disease sequence variation interpretation
DescriptionGenetic disease sequence variation interpretation (53037-8)
Source Code System
2.16.840.1.113883.6.1 - Logical Observation Identifier Names and Codes - FHIR: http://loinc.org - HL7 V2: LN
Level/ TypeCodeDisplay NameCode System
0‑L
LA6668-3
Pathogenic
Logical Observation Identifier Names and Codes
0‑L
LA6669-1
Presumed pathogenic
Logical Observation Identifier Names and Codes
0‑L
LA6682-4
Unknown significance
Logical Observation Identifier Names and Codes
0‑L
LA6675-8
Benign
Logical Observation Identifier Names and Codes
0‑L
LA6674-1
Presumed benign
Logical Observation Identifier Names and Codes
Legenda: Type L=leaf, S=specializable, A=abstract, D=deprecated. NullFlavor OTH (other) suggests text in originalText. HL7 V3: NullFlavors to appear in @nullFlavor attribute instead of @code.
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