sideroblastic anemia, autosomal

Preferred Label : sideroblastic anemia, autosomal;

Définition CISMeF : Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.;

MeSH synonym : sideroblastic anemia, autosomal recessive inheritance;

Details

Origin ID

C537334;

UMLS CUI

C2931472;

Automatic exact mappings (from CISMeF team)
- Aberrant origin of right subclavian artery [ICD-11 More detail]
- arylsulfatase A [ORDO Gene]
CISMeF manual mappings
- Autosomal recessive sideroblastic anemia (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Autosomal recessive sideroblastic anemia [ORDO Disease]
MeSH term(s) associated for indexing
- anemia, sideroblastic [MeSH Descriptor]
Record concept(s)
- Sideroblastic anemia, autosomal [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to BTNT
- Autosomal recessive congenital sideroblastic anaemia [ICD-11 More detail]

Keyword's position in hierarchy(ies) :

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