Hematologic Neoplasm Associated with Down Syndrome

Preferred Label : Hematologic Neoplasm Associated with Down Syndrome;

NCIt synonyms : Myeloid Proliferations Related to Down Syndrome; Myeloid Proliferations Associated with Down Syndrome; Myeloid Proliferation Associated with Down Syndrome;

NCIt definition : Hematologic neoplasms occurring in individuals with Down syndrome. There is an increased risk of acute leukemias in both children and adults with Down syndrome. In particular, the incidence of acute myeloid leukemia in Down syndrome children of less than five years of age is particularly high, it is usually an acute megakaryoblastic leukemia, and is associated with GATA1 gene mutation. This group of disorders also includes the entity transient abnormal myelopoiesis which occurs in neonates and is associated with GATA1 gene mutation.;

Neoplastic status : Malignant;

Details

Origin ID

C82338;

UMLS CUI

C2826104;

Automatic exact mappings (from CISMeF team)
- Myeloid proliferation associated with Down syndrome [ICD-11 Subcategory]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Has cytogenetic abnormalities
- Trisomy 21 [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
concept_is_in_subset
- AML Authorized Value Terminology [NCIt concept]
- AML Disease Characteristics Table [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- NCIt Neoplasm Core Terminology [NCIt concept]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
- Thrombocytopenia [NCIt concept]
disease_has_abnormal_cell
- Malignant Cell [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Hematopoietic and Lymphoid Cell [NCIt concept]
- Neoplastic Myeloid Cell [NCIt concept]
disease_has_associated_disease
- Down Syndrome [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
- Preexisting Condition [NCIt concept]
disease_has_molecular_abnormality
- Germline Variation [NCIt concept]
disease_has_normal_cell_origin
- Bone Marrow Stem Cell [NCIt concept]
- Hematopoietic Stem Cell [NCIt concept]
- Hematopoietic and Lymphoid Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic Tissue [NCIt concept]
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Bone Marrow [NCIt concept]
- Hematopoietic and Lymphatic System [NCIt concept]

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