anemia, sideroblastic spinocerebellar ataxia

Preferred Label : anemia, sideroblastic spinocerebellar ataxia;

CISMeF synonym : Xlsa/A;

MeSH synonym : sideroblastic anemia with spinocerebellar ataxia; pagon bird detter syndrome; anemia, sideroblastic, and spinocerebellar ataxia; anemia, Sex-Linked hypochromic siderobla; X-Linked sideroblastic anemia and ataxia; Xlsa-A;

Details

Origin ID

C536358;

UMLS CUI

C1845028;

Automatic exact mappings (from CISMeF team)
- Anemia, sideroblastic, 1 [OMIM Phenotype]
- X-linked sideroblastic anaemia with ataxia [ICD-11 More detail]
- X-linked sideroblastic anemia [ORDO Disease]
- sideroblastic anemia 1 [DO Concept]
Currated CISMeF NLP mapping
- Anemia, sideroblastic, and spinocerebellar ataxia [OMIM Phenotype]
- X-linked sideroblastic anemia and spinocerebellar ataxia [ORDO Disease]
- X-linked sideroblastic anemia with ataxia [DO Concept]
- sideroblastic anemia with spinocerebellar ataxia [DO Concept]
MeSH term(s) associated for indexing
- anemia, sideroblastic [MeSH Descriptor]
- genetic diseases, X-linked [MeSH Descriptor]
- spinocerebellar ataxias [MeSH Descriptor]
Record concept(s)
- Anemia, sideroblastic spinocerebellar ataxia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Anemia, sideroblastic, and spinocerebellar ataxia [OMIM Phenotype]
- X-linked sideroblastic anemia and spinocerebellar ataxia [ORDO Disease]
- X-linked sideroblastic anemia with ataxia [DO Concept]
- X-linked sideroblastic anemia with spinocerebellar ataxia (disorder) [SNOMED CT concept]
- sideroblastic anemia with spinocerebellar ataxia [DO Concept]

Keyword's position in hierarchy(ies) :

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