Congenital Pure Red Cell Aplasia

Preferred Label : Congenital Pure Red Cell Aplasia;

NCIt synonyms : Diamond-Blackfan Anemia;

NCIt related terms : erythrogenesis imperfecta; Blackfan-Diamond anemia; inherited erythroblastopenia; Diamond Blackfan; DBA; congenital hypoplastic anemia;

NCIt 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.;

Alternative definition : NCI-GLOSS: 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.; NICHD: An inherited condition characterized by aplasia of the erythroid series only. The leukocytes and platelets are not affected. Patients develop anemia, usually in infancy.;

Codes from synonyms : CDR0000666670; CDR0000666671; CDR0000666665; CDR0000666667; CDR0000666666; CDR0000666669; CDR0000666668;

Details

Origin ID

C61236;

UMLS CUI

C1260899;

Automatic exact mappings (from CISMeF team)
- Congenital hypoplastic anemia [HPO term]
- Congenital pure red cell aplasia [ICD-11 Category]
- Erythrogenesis imperfecta (disorder) [Inactive SNOMED CT concept]
- anemia, hypoplastic, congenital [MeSH concept]
- anemia, hypoplastic, congenital [MeSH Descriptor]
- congenital hypoplastic anemia [DO Concept]
- ribosomal protein S19 [ORDO Gene]
- ribosomal protein S19 [HGNC gene]
Currated CISMeF NLP mapping
- Aase syndrome (disorder) [SNOMED CT concept]
- Blackfan-Diamond anaemia [ICD-11 More detail]
- Congenital hypoplastic anemia (disorder) [SNOMED CT concept]
- Congenital pure red cell aplasia (disorder) [Inactive SNOMED CT concept]
- Diamond Blackfan anemia [Disease (Nov.)]
- Diamond-Blackfan anaemia [MedDRA LLT]
- Diamond-Blackfan anemia [DO Concept]
- Diamond-Blackfan anemia [MedDRA LLT]
- Diamond-blackfan anemia [OMIM phenotypic series]
- anemia, Diamond-Blackfan [MeSH concept]
- anemia, diamond-blackfan [MeSH Descriptor]
- chronic constitutional pure red cell aplasia [SNOMED Notion]
DO Cross reference
- Diamond-Blackfan anemia [DO Concept]
Has associated anatomic sites
- Bone Marrow [NCIt concept]
- Hematopoietic and Lymphatic System [NCIt concept]
See also inter- (CISMeF)
- Blackfan-Diamond anemia [ORDO Disease]
- Diamond-blackfan anemia 1 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital hypoplastic anemia [HPO term]
- Congenital hypoplastic anemia (disorder) [SNOMED CT concept]
- Congenital pure red cell aplasia (disorder) [Inactive SNOMED CT concept]
- Diamond-Blackfan anaemia [MedDRA LLT]
- Diamond-Blackfan anemia [MedDRA LLT]
- Diamond-Blackfan anemia [DO Concept]
- anemia, Diamond-Blackfan [MeSH concept]
- anemia, diamond-blackfan [MeSH Descriptor]
- chronic constitutional pure red cell aplasia [SNOMED Notion]
- congenital erythroid hypoplasia [Disease (Nov.)]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- OS Authorized Value Terminology [NCIt concept]
- OS Medical History Table [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_normal_cell_origin
- Hematopoietic and Lymphoid Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Hematopoietic and Lymphatic System [NCIt concept]
related_to_genetic_biomarker
- RPL11 Gene [NCIt concept]
- RPL19 Gene [NCIt concept]
- RPL26 Gene [NCIt concept]
- RPL35A Gene [NCIt concept]
- RPL5 Gene [NCIt concept]
- RPS10 Gene [NCIt concept]
- RPS17 Gene [NCIt concept]
- RPS19 Gene [NCIt concept]
- RPS24 Gene [NCIt concept]
- RPS26 Gene [NCIt concept]
- RPS7 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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