Inherited Bone Marrow Failure Syndrome

Preferred Label : Inherited Bone Marrow Failure Syndrome;

NCIt related terms : IBMFS;

NCIt definition : 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.;

Alternative definition : NCI-GLOSS: 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.;

Codes from synonyms : CDR0000446549; CDR0000458026;

Details

Origin ID

C94810;

UMLS CUI

C2986691;

Currated CISMeF NLP mapping
- Congenital Bone Marrow Failure Syndromes [MeSH Descriptor]
- Inherited bone marrow failure syndrome [MedDRA LLT]
Has associated anatomic sites
- Bone Marrow [NCIt concept]
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital Bone Marrow Failure Syndromes [MeSH Descriptor]
- Inherited bone marrow failure syndrome [MedDRA LLT]
disease_has_associated_disease
- Hematologic Neoplasm with Germline Predisposition Associated with Inherited Bone Marrow Failure Syndrome [NCIt concept]
- Hematologic Neoplasm with Germline Predisposition Associated with Telomerase Biology Disorder [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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