fanconi anemia

Preferred Label : fanconi anemia;

MeSH definition : 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);

MeSH synonym : anemia, fanconi; fanconi anemias; anemias, fanconi; anemia, fanconi's; fanconi's anemia; fanconi pancytopenia; fanconi panmyelopathy; fanconi hypoplastic anemia;

MeSH annotation : do not confuse with FANCONI SYNDROME, a dysfunction of proximal renal tubules;

Wikipedia link : https://en.wikipedia.org/wiki/Fanconi anemia;

Details

Origin ID

D005199;

UMLS CUI

C0015625;

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]
Automatic exact mappings (from CISMeF team)
- Addison's anemia [MedDRA LLT]
- BRCA1 DNA repair associated [HGNC gene]
- Beta Thalassemia [NCIt concept]
- Biermer's disease [ORDO Disease]
- Constitutional aplastic anaemia [ICD-10 Sub-category (who)]
- Cooley's anemia [MedDRA LLT]
- FANCA Gene Mutation [NCIt concept]
- FANCA wt Allele [NCIt concept]
- Fanconi anemia [OMIM phenotypic series]
- Fanconi anemia, complementation group a [OMIM Phenotype]
- Homozygous beta thalassemia (disorder) [SNOMED CT concept]
- Pernicious anaemia [MedDRA Preferred Term]
- Pernicious anemia (disorder) [SNOMED CT concept]
- SLX4 structure-specific endonuclease subunit [HGNC gene]
- Vegan's anemia (disorder) [SNOMED CT concept]
- aplastic anemia [MedlinePlus Topic]
- partner and localizer of BRCA2 [HGNC gene]
- thalassemia [MedlinePlus Topic]
Currated CISMeF NLP mapping
- Fanconi Anemia [NCIt concept]
- Fanconi anaemia [ICD-11 More detail]
- Fanconi anemia [PASCAL descriptor]
- Fanconi anemia [DO Concept]
- Fanconi anemia [Disease (Nov.)]
- Fanconi anemia [ORDO Disease]
- Fanconi's anaemia [MedDRA LLT]
- Fanconi's anemia [MedDRA LLT]
- Fanconi's anemia (disorder) [SNOMED CT concept]
- fanconi pancytopenia syndrome [SNOMED Notion]
DO Cross reference
- Fanconi anemia [DO Concept]
Indexing information
- FANCA protein, human [MeSH Supplementary Concept]
- fanca protein, mouse [MeSH Supplementary Concept]
Localisation(s) d'après SNOMED CT
- bone marrow [MeSH Descriptor]
Manual NTBT mappings (CISMeF)
- Genetic hyperpigmentation of the skin [ORDO Disease]
- Hematological disorder with renal involvement [ORDO Disease]
- Hyperpigmentation of the skin [ORDO Disease]
- Non-syndromic limb reduction defect [ORDO Disease]
- Polymalformative genetic syndrome with increased risk of developing cancer [ORDO Disease]
- Rare constitutional aplastic anemia [ORDO Disease]
Ne pas confondre avec
- fanconi syndrome [MeSH Descriptor]
ORDO relation(s)
- Fanconi anemia [ORDO Disease]
Record concept(s)
- fanconi anemia [MeSH concept]
Related MeSH Supplementary Concept(s)
- Estren-Dameshek variant of fanconi anemia [MeSH Supplementary Concept]
- Estren-Dameshek variant of fanconi pancytopenia [MeSH Supplementary Concept]
- fanconi anemia, complementation group B [MeSH Supplementary Concept]
- fanconi anemia, complementation group D1 [MeSH Supplementary Concept]
- fanconi anemia, complementation group I [MeSH Supplementary Concept]
- fanconi anemia, complementation group J [MeSH Supplementary Concept]
- fanconi anemia, complementation group N [MeSH Supplementary Concept]
- milner khallouf gibson syndrome [MeSH Supplementary Concept]
See also (suggested by CISMeF)
- fanconi anemia complementation group proteins [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fanconi Anemia [NCIt concept]
- Fanconi anaemia [ICD-11 More detail]
- Fanconi anemia [ORDO Disease]
- Fanconi anemia [DO Concept]
- Fanconi anemia [PASCAL descriptor]
- Fanconi anemia [Disease (Nov.)]
- Fanconi's anaemia [MedDRA LLT]
- Fanconi's anemia [MedDRA LLT]
- Fanconi's anemia (disorder) [SNOMED CT concept]
- fanconi pancytopenia syndrome [SNOMED Notion]

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