LDLR gene mutation analysis limited to known familial mutations:Find:Pt:Bld/Tiss:Doc:Molgen

Preferred Label : LDLR gene mutation analysis limited to known familial mutations:Find:Pt:Bld/Tiss:Doc:Molgen;

LOINC status : ACTIVE;

LOINC display name : LDLR gene familial mut analysis Molgen Doc (Bld/Tiss);

LOINC long common name : LDLR gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method;

LOINC short name : LDLR gene Fam Mut Anl Bld/T;

LOINC description : This term is used for carrier or diagnostic testing for at-risk relatives of an affected individual who has a previously identified known genetic mutation within the LDLR gene. Mutation analysis only includes testing for the known familial mutation(s).;

Détails

Origin ID

69485-1;

UMLS CUI

C3481721;

Has component
- Gene [LOINC component]
- Gene mutation analysis limited to known familial mutations [LOINC component]
- LDLR gene [LOINC component]
- LDLR gene mutation analysis limited to known familial mutations [LOINC component]
- Mutations [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]

Position du mot-clé dans l'(les) arborescence(s) :

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