Fanconi Anemia

Preferred Label : Fanconi Anemia;

NCIt synonyms : Panmyelopathy, Fanconi; Pancytopenia, Congenital; Primary Erythroid Hypoplasia;

NCIt related terms : Fanconi's anemia;

NCIt definition : An autosomal recessive genetic disorder characterized by bone marrow failure, skeletal abnormalities, and an increased incidence of the development of neoplasias.;

Alternative definition : NICHD: A chromosomal instability syndrome that is the most common form of inherited aplastic anemia. It is inherited as an autosomal recessive or X-linked disorder. In addition to bone marrow failure, it is associated with skeletal abnormalities and increased incidence of the development of malignancy. Multiple genes are responsible for Fanconi anemia.; NCI-GLOSS: A rare inherited disorder in which the bone marrow does not make blood cells. It is usually diagnosed in children between 2 and 15 years old. Symptoms include frequent infections, easy bleeding, and extreme tiredness. People with Fanconi anemia may have a small skeleton and brown spots on the skin. They also have an increased risk of developing certain types of cancer.;

Codes from synonyms : CDR0000045499;

Détails

Origin ID

C62505;

UMLS CUI

C0015625;

Automatic exact mappings (from CISMeF team)
- Addison's anemia [MedDRA LLT]
- BRCA1 DNA repair associated [HGNC gene]
- Biermer's disease [ORDO Disease]
- Constitutional aplastic anaemia [ICD-10 Sub-category (who)]
- Cooley's anemia [MedDRA LLT]
- 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]
- anemia, pernicious [MeSH Descriptor]
- aplastic anemia [MedlinePlus Topic]
- beta-Thalassemia [MeSH Descriptor]
- partner and localizer of BRCA2 [HGNC gene]
- thalassemia [MedlinePlus Topic]
Currated CISMeF NLP mapping
- Fanconi anaemia [ICD-11 More detail]
- Fanconi anemia [Disease (Nov.)]
- Fanconi anemia [PASCAL descriptor]
- Fanconi anemia [DO Concept]
- Fanconi anemia [ORDO Disease]
- Fanconi's anaemia [MedDRA LLT]
- Fanconi's anemia [MedDRA LLT]
- Fanconi's anemia (disorder) [SNOMED CT concept]
- fanconi anemia [MeSH Descriptor]
- fanconi anemia [MeSH concept]
- fanconi pancytopenia syndrome [SNOMED Notion]
DO Cross reference
- Fanconi anemia [DO Concept]
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)
- Fanconi anaemia [ICD-11 More detail]
- Fanconi anemia [ORDO Disease]
- Fanconi anemia [PASCAL descriptor]
- Fanconi anemia [DO Concept]
- Fanconi anemia [Disease (Nov.)]
- Fanconi's anaemia [MedDRA LLT]
- Fanconi's anemia [MedDRA LLT]
- Fanconi's anemia (disorder) [SNOMED CT concept]
- fanconi anemia [MeSH concept]
- fanconi anemia [MeSH Descriptor]
- fanconi pancytopenia syndrome [SNOMED Notion]
associated_with_malfunction_of_gene_product
- E3 Ubiquitin-Protein Ligase FANCL [NCIt concept]
- Fanconi Anemia Group A Protein [NCIt concept]
- Fanconi Anemia Group B Protein [NCIt concept]
- Fanconi Anemia Group C Protein [NCIt concept]
- Fanconi Anemia Group D2 Protein [NCIt concept]
- Fanconi Anemia Group E Protein [NCIt concept]
- Fanconi Anemia Group F Protein [NCIt concept]
- Fanconi Anemia Group G Protein [NCIt concept]
- Fanconi Anemia Group I Protein [NCIt concept]
- Fanconi Anemia Group J Protein [NCIt concept]
- Fanconi Anemia Group M Protein [NCIt concept]
- Partner and Localizer of BRCA2 [NCIt concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- EWS Authorized Value Terminology [NCIt concept]
- EWS Medical History Table [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- OS Authorized Value Terminology [NCIt concept]
- OS Medical History Table [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
disease_has_associated_disease
- Anemia [NCIt concept]
disease_has_associated_gene
- FANCM Gene [NCIt concept]
- FANCM wt Allele [NCIt concept]
disease_has_finding
- Bone Marrow Failure [NCIt concept]
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- Fanconi Anemia Complementation Group Gene Mutation [NCIt concept]
disease_may_have_associated_disease
- Myelodysplastic Syndrome [NCIt concept]
may_be_associated_disease_of_disease
- Refractory Cytopenia of Childhood [NCIt concept]
related_to_genetic_biomarker
- BRCA2 Gene [NCIt concept]
- BRIP1 Gene [NCIt concept]
- FANCA Gene [NCIt concept]
- FANCB Gene [NCIt concept]
- FANCC Gene [NCIt concept]
- FANCD2 Gene [NCIt concept]
- FANCE Gene [NCIt concept]
- FANCF Gene [NCIt concept]
- FANCG Gene [NCIt concept]
- FANCI Gene [NCIt concept]
- FANCL Gene [NCIt concept]
- PALB2 Gene [NCIt concept]
- RAD51C Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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