loading...| Preferred Name |
Congenital Pure Red Cell Aplasia |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61236 |
| 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. An inherited condition characterized by aplasia of the erythroid series only. The leukocytes and platelets are not affected. Patients develop anemia, usually in infancy. |
| code |
C61236 |
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177281 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118168 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177516 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C179478 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 |
| Contributing_Source |
NICHD CTRP CCPS Cellosaurus PCDC |
| 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. |
| Display_Name |
Congenital Pure Red Cell Aplasia |
| FULL_SYN |
inherited erythroblastopenia erythrogenesis imperfecta DBA Blackfan-Diamond anemia Diamond Blackfan congenital pure red cell aplasia Diamond-Blackfan Anemia Congenital Pure Red Cell Aplasia congenital hypoplastic anemia Diamond-Blackfan anemia |
| label |
Congenital Pure Red Cell Aplasia |
| Legacy Concept Name |
Diamond-Blackfan_Anemia |
| Preferred_Name |
Congenital Pure Red Cell Aplasia |
| prefixIRI |
Thesaurus:C61236 |
| prefLabel |
Congenital Pure Red Cell Aplasia |
| Related_To_Genetic_Biomarker |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177129 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177132 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177141 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177138 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C24750 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177135 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C107652 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177154 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177144 |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0949116 |
| subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34974 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bmicc.cn/ontology/ICD11CN/3A60 | 《国际疾病分类》第11版中文版 / International Classification of Diseases, 11th Edition, China | LOOM |