Myelodysplastic syndrome

Preferred Label : Myelodysplastic syndrome;

Symbol : MDS;

CISMeF acronym : MDS;

Type : Phenotype, molecular basis known;

Included titles and symbols : Myelodysplastic syndrome, susceptibility to;

Description : Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematologic stem cell disorders characterized by ineffective hematopoiesis resulting in low blood counts, most commonly anemia, and a risk of progression to acute myeloid leukemia (AML; 601626). Blood smears and bone marrow biopsies show dysplastic changes in myeloid cells, with abnormal proliferation and differentiation of 1 or more lineages (erythroid, myeloid, megakaryocytic). MDS can be subdivided into several categories based on morphologic characteristics, such as low-grade refractory anemia (RA) or high-grade refractory anemia with excess blasts (RAEB). Bone marrow biopsies of some patients show ringed sideroblasts (RARS), which reflects abnormal iron staining in mitochondria surrounding the nucleus of erythrocyte progenitors (summary by Delhommeau et al., 2009 and Papaemmanuil et al., 2011).;

Prefixed ID : #614286;

Details

Origin ID

614286;

UMLS CUI

C3463824;

Automatic exact mappings (from CISMeF team)
- ASXL1 wt Allele [NCIt concept]
- Adult Myelodysplastic Syndrome [NCIt concept]
- Childhood Myelodysplastic Syndrome [NCIt concept]
- Miller-Dieker lissencephaly syndrome [DO Concept]
- Myelodysplastic Syndrome, CTCAE [NCIt concept]
- NCI CTEP SDC Myelodysplastic Syndrome Sub-Category Terminology [NCIt concept]
- Other myelodysplastic syndromes [ICD-10 Sub-category (who)]
- SF3B1 wt Allele [NCIt concept]
- YWHAE wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- MYELODYSPLASTIC SYNDROME [WHO-ART Included Term]
- MYELOID DYSPLASIA [WHO-ART Preferred Term]
- Myelodysplasia [HPO term]
- Myelodysplastic Syndrome [NCIt concept]
- Myelodysplastic neoplasm (morphologic abnormality) [SNOMED CT concept]
- Myelodysplastic syndrome [PASCAL descriptor]
- Myelodysplastic syndrome [HPO term]
- Myelodysplastic syndrome [MedDRA Preferred Term]
- Myelodysplastic syndrome [ORDO Disease]
- Myelodysplastic syndrome [HRDO Sign]
- Myelodysplastic syndrome (disorder) [SNOMED CT concept]
- Myelodysplastic syndrome NOS [MedDRA LLT]
- Myelodysplastic syndrome, no International Classification of Diseases for Oncology subtype (morphologic abnormality) [SNOMED CT concept]
- Myelodysplastic syndrome, unclassifiable [ICD-11 Category]
- Myelodysplastic syndromes [ICD-10 category]
- Myelodysplastic syndromes [Bloc CIM-11]
- Myelodysplastic syndromes [Bloc CIM-11]
- Myelodysplastic syndromes [ICD-10 category (who)]
- Myelodysplastic syndromes [MedDRA High Level Term]
- myelodysplastic syndrome [DO Concept]
- myelodysplastic syndrome [Disease (Nov.)]
- myelodysplastic syndrome [Blood Transfusion thesaurus concept]
- myelodysplastic syndromes [MedlinePlus Topic]
- myelodysplastic syndromes [MeSH Descriptor]
- myelodysplastic syndromes [MeSH concept]
- refractory anemia [ICD-O menu]
DO Cross reference
- myelodysplastic syndrome [DO Concept]
False automatic mappings
- Doctor of Medicine [NCIt concept]
- MDS [MedDRA LLT]
- Maryland [NCIt concept]
- Moldova, Republic of [NCIt concept]
- PAFAH1B1 wt Allele [NCIt concept]
- bone marrow diseases [MedlinePlus Topic]
Genes related to phenotype
- Asxl transcriptional regulator 1 [OMIM gene]
- Gata-binding protein 2 [OMIM gene]
- Guanine nucleotide-binding protein, beta-1 [OMIM gene]
- Splicing factor 3b, subunit 1 [OMIM gene]
- Tet methylcytosine dioxygenase 2 [OMIM gene]
HPO term(s)
- Myelodysplasia [HPO term]
- Somatic mutation [HPO term]
ORDO concept(s)
- Myelodysplastic syndrome [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- MYELODYSPLASTIC SYNDROME [WHO-ART Included Term]
- MYELOID DYSPLASIA [WHO-ART Preferred Term]
- Myelodysplasia [HPO term]
- Myelodysplasia [MedDRA LLT]
- Myelodysplastic Syndrome [NCIt concept]
- Myelodysplastic neoplasm (morphologic abnormality) [SNOMED CT concept]
- Myelodysplastic syndrome [MedDRA Preferred Term]
- Myelodysplastic syndrome [ORDO Disease]
- Myelodysplastic syndrome [HRDO Sign]
- Myelodysplastic syndrome (disorder) [SNOMED CT concept]
- Myelodysplastic syndrome NOS [MedDRA LLT]
- Myelodysplastic syndrome, unspecified [ICD-10 Sub-category]
- Myelodysplastic syndrome, unspecified [ICD-9 code]
- Myelodysplastic syndromes [MedDRA High Level Term]
- Myelodysplastic syndromes [ICD-10 category]
- Myelodysplastic syndromes [Bloc CIM-11]
- Myeloid dysplasia [MedDRA LLT]
- Preleukaemia [MedDRA LLT]
- Preleukemia [MedDRA LLT]
- myelodysplastic syndrome [Disease (Nov.)]
- myelodysplastic syndromes [MeSH Descriptor]
- myelodysplastic syndromes [MedlinePlus Topic]

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