Fanconi anaemia

Preferred Label : Fanconi anaemia;

ICD-11 definition : Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.;

ICD-11 synonym : Fanconi pancytopenia;

ICD-11 inclusion : Fanconi pancytopenia syndrome; Fanconi hypoplastic anaemia; Fanconi familial refractory anaemia;

Details

Origin ID

1500851497;

UMLS CUI

C0015625;

Currated CISMeF NLP mapping
- Fanconi Anemia [NCIt concept]
- Fanconi anemia [PASCAL descriptor]
- Fanconi anemia [ORDO Disease]
- 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 Descriptor]
- fanconi anemia [MeSH concept]
- fanconi pancytopenia syndrome [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fanconi Anemia [NCIt concept]
- Fanconi anemia [DO Concept]
- Fanconi anemia [Disease (Nov.)]
- Fanconi anemia [ORDO Disease]
- Fanconi anemia [PASCAL descriptor]
- 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]

Keyword's position in hierarchy(ies) :

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