X-linked sideroblastic anemia

Preferred Label : X-linked sideroblastic anemia;

MeSH synonym : hereditary Iron-Loading anemia; anemia, sideroblastic, X-Linked; anemia, hereditary sideroblastic; anemia, Sex-Linked hypochromic sideroblastic; erythroid 5-Aminolevulinate synthase deficiency; X Chromosome-Linked sideroblastic anemia; X-Linked Pyridoxine-Responsive sideroblastic anemia; congenital sideroblastic anaemia;

Details

Origin ID

C536761;

UMLS CUI

C4551511;

Automatic exact mappings (from CISMeF team)
- Hereditary Sideroblastic Anemia [NCIt concept]
- Hereditary sideroblastic anaemia [ICD-10 Sub-category (who)]
- Hereditary sideroblastic anaemia [MedDRA Preferred Term]
- Hereditary sideroblastic anemia [MedDRA LLT]
- Hereditary sideroblastic anemia (disorder) [Inactive SNOMED CT concept]
- X-linked sideroblastic anaemia, pyridoxine-responsive [ICD-11 More detail]
- hereditary sideroblastic anemia, nos [SNOMED Notion]
Currated CISMeF NLP mapping
- Anemia, sideroblastic, 1 [OMIM Phenotype]
- X chromosome-linked sideroblastic anemia (disorder) [SNOMED CT concept]
- X-linked sideroblastic anemia [ORDO Disease]
- sideroblastic anemia 1 [DO Concept]
- x chromosome-linked sideroblastic anemia, nos [SNOMED Notion]
MeSH term(s) associated for indexing
- anemia, sideroblastic [MeSH Descriptor]
- genetic diseases, X-linked [MeSH Descriptor]
ORDO relation(s)
- X-linked sideroblastic anemia [ORDO Disease]
Record concept(s)
- X-linked sideroblastic anemia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Anemia, sideroblastic, 1 [OMIM Phenotype]
- Hereditary sideroblastic anaemia [ICD-10 Sub-category (who)]
- X chromosome-linked sideroblastic anemia (disorder) [SNOMED CT concept]
- sideroblastic anemia 1 [DO Concept]
Validated automatic mappings to NTBT
- Congenital sideroblastic anaemias [ICD-11 Subcategory]

Keyword's position in hierarchy(ies) :

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