- Concept UI
- M0008227
- Scope Note
- Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004)
- Terms
-
Fanconi Anemia
Preferred Term
Term UI
T443844
Date04/22/2001
LexicalTag
NON
ThesaurusID
-
Anemia, Fanconi
Term UI
T015952
Date11/11/1974
LexicalTag
EPO
ThesaurusID
UNK (19XX)
-
Fanconi's Anemia
Term UI
T015953
Date01/01/1999
LexicalTag
EPO
ThesaurusID
-
Fanconi Hypoplastic Anemia
Term UI
T841427
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
Fanconi Pancytopenia
Term UI
T841428
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
Fanconi Panmyelopathy
Term UI
T841429
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)