dyserythropoietic anemia with thrombocytopenia

Preferred Label : dyserythropoietic anemia with thrombocytopenia;

MeSH synonym : X-Linked Macrothrombocytopenia; Gata1-Related X-Linked Cytopenia; Dyserythropoietic Anemia and Thrombocytopenia; Gata1-Related Cytopenia;

Details

Origin ID

C564525;

UMLS CUI

C1845837;

Automatic exact mappings (from CISMeF team)
- Dyserythropoietic anaemia with thrombocytopenia [ICD-11 More detail]
- GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder) [SNOMED CT concept]
- X-linked thrombocytopenia with beta-thalassemia [DO Concept]
Currated CISMeF NLP mapping
- Thrombocytopenia with congenital dyserythropoietic anemia [ORDO Disease]
- Thrombocytopenia, X-linked, with or without dyserythropoietic anemia [OMIM Phenotype]
- X-linked Thrombocytopenia, with or without Dyserythropoietic Anemia [NCIt concept]
- X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- anemia, dyserythropoietic, congenital [MeSH Descriptor]
- genetic diseases, X-linked [MeSH Descriptor]
- thrombocytopenia [MeSH Descriptor]
Record concept(s)
- dyserythropoietic anemia with thrombocytopenia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder) [SNOMED CT concept]
- Thrombocytopenia with congenital dyserythropoietic anemia [ORDO Disease]

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