Congenital Amegakaryocytosis

Preferred Label : Congenital Amegakaryocytosis;

NCIt definition : A rare disorder of infancy characterized by marked reduction or absence of megakaryocytes and thrombocytopenia.;

Alternative definition : NICHD: A rare disorder of infancy characterized by a marked reduction in, or a complete absence of, megakaryocytes, and thrombocytopenia.;

Details

Origin ID

C89161;

UMLS CUI

C2982591;

Automatic exact mappings (from CISMeF team)
- Congenital amegakaryocytic thrombocytopenia [ICD-11 More detail]
- Congenital amegakaryocytic thrombocytopenia (disorder) [SNOMED CT concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [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]

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