Congenital Bone Marrow Failure Syndromes

Preferred Label : Congenital Bone Marrow Failure Syndromes;

MeSH definition : Inherited syndromes characterized by deficiency or absence of various blood cells due to mutations that affect HEMATOPOIETIC STEM CELLS development and proliferation.;

MeSH synonym : Congenital Bone Marrow Failure Syndrome; Inherited BMF Syndrome; BMF Syndrome, Inherited; Bone Marrow Failure Syndromes, Congenital; IBMFS; CBMFS; Inherited BMF Syndromes; Bone Marrow Failure Syndromes, Inherited; Inherited Bone Marrow Failure Syndrome; Inherited Bone Marrow Failure Syndromes;

Details

Origin ID

D000080984;

UMLS CUI

C2986691;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Currated CISMeF NLP mapping
- Inherited Bone Marrow Failure Syndrome [NCIt concept]
- Inherited bone marrow failure syndrome [MedDRA LLT]
Record concept(s)
- Congenital Bone Marrow Failure Syndromes [MeSH concept]
Related MeSH Supplementary Concept(s)
- VLCAD deficiency [MeSH Supplementary Concept]
- absent radii and thrombocytopenia [MeSH Supplementary Concept]
- congenital amegakaryocytic thrombocytopenia [MeSH Supplementary Concept]
- neutropenia, severe congenital, autosomal recessive 3 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Inherited Bone Marrow Failure Syndrome [NCIt concept]
- Inherited bone marrow failure syndrome [MedDRA LLT]

Keyword's position in hierarchy(ies) :

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