SMN2 gene copy number:EntNum:Pt:Bld/Tiss:Qn:Molgen

Preferred Label : SMN2 gene copy number:EntNum:Pt:Bld/Tiss:Qn:Molgen;

LOINC status : ACTIVE;

LOINC display name : SMN2 copy num Molgen (Bld/Tiss) [Entitic number];

LOINC long common name : SMN2 gene copy number in Blood or Tissue by Molecular genetics method;

LOINC short name : SMN2 copy num EntNum Bld/T;

LOINC description : The SMN2 copy number varies from 0 to 3 copies in the population, with about 10-15% of unaffected individuals having no SMN2 gene. The SMN2 copy number does not impact the carrier status but rather influences severity of disease in patients with spinal muscular atrophy (SMA), where the presence of more copies is associated with milder disease.[PMID: 21673580];

Details

Origin ID

97654-8;

UMLS CUI

C5452447;

Has component
- Gene [LOINC component]
- Number [LOINC component]
- SMN2 gene [LOINC component]
- SMN2 gene copy number [LOINC component]
Has method
- Molecular genetics [LOINC method]
Has property
- Entitic number [LOINC Property]
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]
Part of panel
- Spinal muscular atrophy newborn screening panel:-:Pt:Bld.dot:-: [LOINC code]
Semantic type(s)
- Clinical Attribute [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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