Congenital Bone Marrow Failure Syndromes [vrozené syndromy selhání kostní dřeně]

topical
2
Terms

IBMFS
kongenitální syndromy selhání kostní dřeně
syndromy selhání kostní dřeně kongenitální
syndromy selhání kostní dřeně vrozené

 

Bone Marrow Failure Syndromes, Congenital
Bone Marrow Failure Syndromes, Inherited
CBMFS
Congenital Bone Marrow Failure Syndrome
IBMFS
Inherited BMF Syndrome
Inherited BMF Syndromes
Inherited Bone Marrow Failure Syndrome
Inherited Bone Marrow Failure Syndromes

Definition

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

DUI
D000080984 MeSH Browser
CUI
M000649195
Previous indexing
Anemia, Aplastic (1963-2019); Bone Marrow (1964-2019)
History note
2020
Public note
2020

C Diseases
C15.378.190 Bone Marrow Diseases 187
C15.378.190.223.250 Anemia, Aplastic 207
C15.378.190.223.500.500 Anemia, Hypoplastic, Congenital 3
C15.378.190.223.500.750 Dyskeratosis Congenita 9
C15.378.190.223.500.875 Shwachman-Diamond Syndrome 2
C16.614.053 Anemia, Neonatal 22
C16.614.092 Asphyxia Neonatorum 173
C16.614.131 Birth Injuries 158
C16.614.166 Colic 125
C16.614.213 Cystic Fibrosis 1 330
C16.614.378 Hernia, Umbilical 45
C16.614.438 Hydrophthalmos 9
C16.614.492 Ichthyosis 62
C16.614.595 Mobius Syndrome 10
C16.614.627 Neonatal Sepsis 35
C16.614.660 OEIS Complex
C16.614.810 Sclerema Neonatorum 2
C16.614.868 Syphilis, Congenital 87
C16.614.947 Wolman Disease 15

Absent radii and thrombocytopenia Disease MeSH Browser

Congenital amegakaryocytic thrombocytopenia Disease MeSH Browser

Neutropenia, Severe Congenital, Autosomal Recessive 3 Disease MeSH Browser

VLCAD deficiency Disease MeSH Browser