Terminology Service for NFDI4Health
Inherited Bone Marrow Failure Syndrome
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http://purl.obolibrary.org/obo/NCIT_C94810
A group of inherited genetic hematopoietic stem cell disorders characterized by bone marrow failure that involves one or more cell lines. Representative examples include Fanconi anemia, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome. [ ]
Term info
Label
Inherited Bone Marrow Failure Syndrome
Synonyms
- IBMFS
- Inherited Bone Marrow Failure Syndrome
- inherited bone marrow failure syndrome
ALT DEFINITION
A rare disorder in which a person's bone marrow is unable to make enough blood cells and there is a family history of the same disorder. There are several different types of inherited bone marrow failure syndrome, and patients with one of them are at high risk of forming acute leukemia or certain solid tumors.
Preferred Name
Inherited Bone Marrow Failure Syndrome
Semantic Type
Disease or Syndrome
UMLS CUI
C2986691
code
C94810