Beta Thalassemia Plus Structural Variants

Preferred Label : Beta Thalassemia Plus Structural Variants;

NCIt definition : A heterozygous state in which a person has a mutation in a beta globin allele causing beta thalassemia, together with other structural variants in the other allele.;

Alternative definition : NICHD: A heterozygous state in which a person has a loss of function mutation in one beta globin allele together with an unstable variant in the other allele.;

Details

Origin ID

C95538;

UMLS CUI

C2987215;

Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
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- NICHD Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
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- Hematopoietic and Lymphoid Cell [NCIt concept]
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- Hematopoietic and Lymphoid Tissue [NCIt concept]
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- Hematopoietic and Lymphatic System [NCIt concept]
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- HBB Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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