CMT axonal gene targeted mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen

Preferred Label : CMT axonal gene targeted mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen;

LOINC status : ACTIVE;

LOINC display name : CMT axonal gene targeted mutation analysis Molgen Doc (Bld/Tiss);

LOINC long common name : CMT axonal gene targeted mutation analysis in Blood or Tissue by Molecular genetics method;

LOINC short name : CMT2 gene Mut Anl Bld/T;

LOINC description : Detects GJB, MPZ and NEFL gene mutations;

Synonyme UMLS : CMT2 gene Mut Anal Bld/T; CMT axonal gene mutation analysis:Prid:Pt:Bld/Tiss:Nom:Molgen; CMT axonal gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal; CMT axonal gene mutation analysis:Presence or Identity:Point in time:Whole blood/Tissue, unspecified:Nominal:MOLECULAR GENETICS;

Details

Origin ID

35464-7;

UMLS CUI

C1507598;

Has component
- CMT axonal gene [LOINC component]
- CMT axonal gene targeted mutation analysis [LOINC component]
- Gene [LOINC component]
Has method
- Molecular genetics [LOINC method]
Has property
- Finding [LOINC Property]
Has scale
- Doc [LOINC scale]
Has system
- Blood [LOINC System]
- Blood or Tissue [LOINC System]
- Tissue and Smears [LOINC System]
Has time aspect
- Point in time (spot) [LOINC time aspect]
Semantic type(s)
- Clinical Attribute [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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