THBD gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing

Preferred Label : THBD gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing;

LOINC status : ACTIVE;

LOINC display name : THBD gene full mutation analysis Sequencing Doc (Bld/Tiss);

LOINC long common name : THBD gene full mutation analysis in Blood or Tissue by Sequencing;

LOINC short name : THBD gene Full Mut Anl Bld/T Seq;

LOINC description : This test detects alterations in the THBD gene, which have been associated with one of several clinical phenotypes and hereditary disorders, namely an increased risk for thrombosis, atypical hemolytic uremic syndrome (aHUS), and hereditary excessive bleeding following physical trauma or surgery.;

Details

Origin ID

92995-0;

UMLS CUI

C5144870;

Has component
- Gene [LOINC component]
- THBD gene [LOINC component]
- THBD gene full mutation analysis [LOINC component]
Has method
- Sequencing [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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