Anemia, sideroblastic, pyridoxine-responsive, autosomal recessive

Preferred Label : Anemia, sideroblastic, pyridoxine-responsive, autosomal recessive;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Anemia, congenital sideroblastic, b6-responsive;

Inheritance : Autosomal recessive; X-linked form more common;

Prefixed ID : 206000;

Details

Origin ID

206000;

UMLS CUI

C1859787;

Automatic exact mappings (from CISMeF team)
- Constitutional sideroblastic anemia [ORDO Disease]
Currated CISMeF NLP mapping
- Pyridoxine-responsive sideroblastic anemia [HPO term]
- Pyridoxine-responsive sideroblastic anemia (disorder) [SNOMED CT concept]
- X chromosome-linked pyridoxine responsive sideroblastic anemia (disorder) [SNOMED CT concept]
- X-linked sideroblastic anemia [ORDO Disease]
- anemia, sideroblastic, Pyridoxine-Responsive, autosomal recessive [MeSH concept]
- anemia, sideroblastic, Pyridoxine-Responsive, autosomal recessive [MeSH Supplementary Concept]
- pyridoxine-responsive sideroblastic anemia [DO Concept]
- x chromosome-linked pyridoxine responsive sideroblastic anemia [SNOMED Notion]
DO Cross reference
- pyridoxine-responsive sideroblastic anemia [DO Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased mean corpuscular volume [HPO term]
- Hepatosplenomegaly [HPO term]
- Hypochromia [HPO term]
- Pyridoxine-responsive sideroblastic anemia [HPO term]
- Sideroblastic anemia [HPO term]
- X-linked inheritance [HPO term]
See also inter- (CISMeF)
- X chromosome-linked sideroblastic anemia (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- anemia, sideroblastic, Pyridoxine-Responsive, autosomal recessive [MeSH Supplementary Concept]
- anemia, sideroblastic, Pyridoxine-Responsive, autosomal recessive [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients