BMPR1A gene mutation analysis limited to known familial mutations:Find:Pt:Bld/Tiss:Doc:Molgen

Preferred Label : BMPR1A gene mutation analysis limited to known familial mutations:Find:Pt:Bld/Tiss:Doc:Molgen;

LOINC status : ACTIVE;

LOINC display name : BMPR1A gene familial mut analysis Molgen Doc (Bld/Tiss);

LOINC long common name : BMPR1A gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method;

LOINC short name : BMPR1A Fam Mut Anl Bld/T;

LOINC description : Predictive testing for juvenile polyposis syndrome where a point mutation or small insertion, deletion, or duplication has been identified previously in an affected family member.;

Détails

Origin ID

75735-1;

UMLS CUI

C3870162;

Has component
- BMPR1A gene [LOINC component]
- BMPR1A gene mutation analysis limited to known familial mutations [LOINC component]
- Gene [LOINC component]
- 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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