About: Congenital Pure Red Cell Aplasia     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Congenital Pure Red Cell Aplasia
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Congenital Pure Red Cell Aplasia
UMLS_CUI
  • C0398550
ALT_DEFINITION
  • A very rare disorder in which the bone marrow doesn't make enough red blood cells. It is usually seen in the first year of life. Patients may have deformed thumbs and other physical problems. They also have an increased risk of leukemia and sarcoma, especially osteosarcoma (bone cancer). Patients with congenital pure red cell aplasia may have a mutation (change) in one of the genes that make proteins found in the cell's ribosomes.NCI-GLOSS
Legacy_Concept_Name
  • Diamond-Blackfan_Anemia
FULL_SYN
  • DBAPTNCI-GLOSSCDR0000666669
  • Diamond-Blackfan AnemiaSYNCI
  • congenital pure red cell aplasiaPTNCI-GLOSSCDR0000666668
  • erythrogenesis imperfectaPTNCI-GLOSSCDR0000666667
  • inherited erythroblastopeniaPTNCI-GLOSSCDR0000666671
  • congenital hypoplastic anemiaPTNCI-GLOSSCDR0000666666
  • Blackfan-Diamond anemiaPTNCI-GLOSSCDR0000666670
  • Diamond-Blackfan anemiaPTNCI-GLOSSCDR0000666665
  • Congenital Pure Red Cell AplasiaPTNCI
DEFINITION
  • An inherited condition characterized by aplasia of the erythroid series only. The white cells and platelets are not affected. Patients develop anemia usually in infancy.NCI
code
  • C61236
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