Myelodysplastic Syndrome with del(5q)

Preferred Label : Myelodysplastic Syndrome with del(5q);

NCIt synonyms : Myelodysplastic Syndrome Associated with Isolated del (5q) Chromosome Abnormality; Myelodysplastic Syndrome with 5q Deletion; Myelodysplastic Syndrome Associated with Isolated del 5q Chromosome Abnormality; MDS-del(5q); Myelodysplastic Neoplasm with Low Blasts and 5q Deletion; Myelodysplastic Syndrome with Isolated Del (5Q);

NCIt related terms : Myelodysplastic syndrome with 5q deletion (5q-) syndrome; 5Q- syndrome; 5Q minus syndrome; Myelodysplastic syndrome with isolated del (5q) chromosomal abnormality; Myelodysplastic Syndrome with Isolated del(5q);

NCIt definition : A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is 5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001);

Alternative definition : NCI-GLOSS: A rare disorder caused by loss of part of the long arm (Q arm) of human chromosome 5. This syndrome affects myeloid (bone marrow) cells, causing treatment-resistant anemia, and myelodysplastic syndromes that may lead to acute myelogenous leukemia.;

Neoplastic status : Malignant;

ICD-O code : 9986/3;

Codes from synonyms : CDR0000531047; CDR0000044810; D46.C;

Details

Origin ID

C6867;

UMLS CUI

C1292779;

CISMeF manual mappings
- Myelodysplastic syndrome with isolated del(5q) (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- 5q minus syndrome [Disease (Nov.)]
- 5q minus syndrome [MedDRA Preferred Term]
- 5q-syndrome [MedDRA LLT]
- Chromosome 5q Deletion Syndrome [MeSH concept]
- Chromosome 5q Deletion Syndrome [MeSH Supplementary Concept]
- Chromosome 5q deletion syndrome [OMIM Phenotype]
- Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality [ORDO Disease]
- Myelodysplastic syndrome with 5q deletion (5q) syndrome [ICD-O code]
- Myelodysplastic syndrome with isolated del(5q) [ICD-11 Category]
- Myelodysplastic syndrome with isolated deletion 5q (morphologic abnormality) [SNOMED CT concept]
- chromosome 5q deletion syndrome [DO Concept]
Disease may have findings
- Favorable Clinical Outcome [NCIt concept]
- Hypercellular Bone Marrow [NCIt concept]
- Leukopenia [NCIt concept]
- Megakaryocytes Increased in Bone Marrow [NCIt concept]
- Thrombocytosis [NCIt concept]
Has associated anatomic sites
- Bone Marrow [NCIt concept]
- Hematopoietic and Lymphatic System [NCIt concept]
Has cytogenetic abnormalities
- Loss of Chromosome 5q [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- 5q minus syndrome [MedDRA Preferred Term]
- Myelodysplastic syndrome with 5q deletion [ICD-9 code]
- Myelodysplastic syndrome with 5q deletion (5q) syndrome [ICD-O code]
- Myelodysplastic syndrome with isolated del(5q) [ICD-11 Category]
- Myelodysplastic syndrome with isolated del(5q) (disorder) [SNOMED CT concept]
- Myelodysplastic syndrome with isolated deletion 5q (morphologic abnormality) [SNOMED CT concept]
concept_is_in_subset
- CPTAC Codelists Terminology [NCIt concept]
- CPTAC Neoplasms Codelist [NCIt concept]
- CPTAC Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
- Mapped ICDO3.1 Morphology PT Terminology [NCIt concept]
- Mapped ICDO3.1 Morphology Terminology [NCIt concept]
- Mapped ICDO3.1 Terminology [NCIt concept]
- Mapped ICDO3.2 Morphology PT Terminology [NCIt concept]
- Mapped ICDO3.2 Morphology Terminology [NCIt concept]
- Mapped ICDO3.2 Terminology [NCIt concept]
- NCIt Neoplasm Core Terminology [NCIt concept]
- mCode Cancer Disorder Value Set [NCIt concept]
- mCode Primary Cancer Disorder Value Set [NCIt concept]
- mCode Primary Malignant Neoplasm Disorder Value Set [NCIt concept]
- mCode Terminology [NCIt concept]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
disease_has_abnormal_cell
- Dysplastic Erythroid Precursor [NCIt concept]
- Hypolobated Megakaryocyte [NCIt concept]
- Malignant Cell [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Hematopoietic and Lymphoid Cell [NCIt concept]
- Neoplastic Myeloid Cell [NCIt concept]
disease_has_associated_disease
- Macrocytic Anemia [NCIt concept]
disease_has_finding
- Bone Marrow Dysplasia Present [NCIt concept]
- Ineffective Hematopoiesis [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
- Myeloblasts Under 2 Percent of Peripheral Blood White Cells [NCIt concept]
- Myeloblasts Under 20 Percent of Bone Marrow Nucleated Cells [NCIt concept]
- Myeloblasts Under 20 Percent of Peripheral Blood White Cells [NCIt concept]
- Myeloblasts Under 5 Percent of Bone Marrow Nucleated Cells [NCIt concept]
- Myeloblasts Under 5 Percent of Peripheral Blood White Cells [NCIt concept]
- Recurrent Genetic Abnormalities Present [NCIt concept]
disease_has_normal_cell_origin
- Bone Marrow 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]
disease_mapped_to_chromosome
- Human Chromosome 5 [NCIt concept]

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