Autosomal recessive sideroblastic anaemia, pyridoxine-refractory

Preferred Label : Autosomal recessive sideroblastic anaemia, pyridoxine-refractory;

ICD-11 definition : Adult onset autosomal recessive sideroblastic anemia or GLRX5-related sideroblastic anemia is a very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes.;

ICD-11 synonym : Adult-onset autosomal recessive sideroblastic anaemia;

Détails

Origin ID

200229490;

Currated CISMeF NLP mapping
- Adult-onset autosomal recessive sideroblastic anemia [ORDO Disease]
- Adult-onset autosomal recessive sideroblastic anemia (disorder) [SNOMED CT concept]
- Anemia, sideroblastic, 2, pyridoxine-refractory [OMIM Phenotype]
- anemia, sideroblastic, Pyridoxine-Refractory, autosomal recessive [MeSH concept]
- anemia, sideroblastic, Pyridoxine-Refractory, autosomal recessive [MeSH Supplementary Concept]
- autosomal recessive pyridoxine-refractory sideroblastic anemia 2 [DO Concept]

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