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Myelodysplastic Syndrome (CUI C3463824) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C3463824

NCI Thesaurus Code: C3247  (see NCI Thesaurus info)

Semantic Type: Neoplastic Process

NCIt Definition: A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001)

GARD Definition: Myelodysplastic syndromes (MDS) are a rare group of blood disorders characterized by abnormal development of blood cells within the bone marrow. Individuals with MDS have abnormally low blood cell levels (low blood counts). Signs and symptoms associated with MDS include dizziness, fatigue, weakness, shortness of breath, bruising and bleeding, frequent infections, and headaches. In some cases, MDS may progress to bone marrow failure or an acute leukemia. The exact cause of MDS is unknown. It sometimes runs in families, but no disease-causing gene has been identified. Treatment depends on the affected individual's age, general health, and type of MDS and may include red cell and/or platelet transfusions and antibiotics. - this information is from GARD/ORDR/NCATS.

PDQ Definition: A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001) Check for active clinical trials using this agent. (NCI Thesaurus)

CTEP Definition: CTEP_For_FDA: 10028534/Myelodysplastic syndrome NOS

HPO Definition: Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia. [HPO:probinson]

MEDLINEPLUS Definition: 

Your bone marrow is the spongy tissue inside some of your bones, such as your hip and thigh bones. It contains immature cells, called stem cells. The stem cells can develop into the red blood cells that carry oxygen through your body, the white blood cells that fight infections, and the platelets that help with blood clotting. If you have a myelodysplastic syndrome, the stem cells do not mature into healthy blood cells. Many of them die in the bone marrow. This means that you do not have enough healthy cells, which can lead to infection, anemia, or easy bleeding.

Myelodysplastic syndromes often do not cause early symptoms and are sometimes found during a routine blood test. If you have symptoms, they may include

  • Shortness of breath
  • Weakness or feeling tired
  • Skin that is paler than usual
  • Easy bruising or bleeding
  • Pinpoint spots under the skin caused by bleeding
  • Fever or frequent infections

Myelodysplastic syndromes are rare. People at higher risk are over 60, have had chemotherapy or radiation therapy, or have been exposed to certain chemicals. Treatment options include transfusions, drug therapy, chemotherapy, and blood or bone marrow stem cell transplants.

NIH: National Cancer Institute

NCI-GLOSS Definition: A group of diseases in which the bone marrow does not make enough healthy blood cells.

CTCAE Definition: A disorder characterized by insufficiently healthy hematapoietic cell production by the bone marrow.

NICHD Definition: A pre-malignant disorder characterized by blood cytopenias and abnormalities in bone marrow morphology.

MSH Definition: Conditions in which the abnormalities in the peripheral blood or bone marrow represent the early manifestations of acute leukemia, but in which the changes are not of sufficient magnitude or specificity to permit a diagnosis of acute leukemia by the usual clinical criteria.

MSH Definition: Clonal hematopoietic stem cell disorders characterized by dysplasia in one or more hematopoietic cell lineages. They predominantly affect patients over 60, are considered preleukemic conditions, and have high probability of transformation into ACUTE MYELOID LEUKEMIA.

Synonyms & Abbreviations: (see Synonym Details)
dysmyelopoiesis
Dysmyelopoietic Syndromes
Dysmyelopoietic Syndrome
Hematopoeitic - Myelodysplastic Syndrome (MDS)
MDS - Myelodysplastic syndrome
MDS
Myelodysplasia
Myelodysplastic Neoplasm
Myelodysplastic synd NOS
Myelodysplastic syndrome (clinical)
Myelodysplastic syndrome (disorder)
Myelodysplastic syndrome (morphologic abnormality)
Myelodysplastic syndrome NOS
Myelodysplastic syndrome, NOS
MYELODYSPLASTIC SYNDROME, SUSCEPTIBILITY TO
Myelodysplastic syndrome, unspecified
Myelodysplastic Syndrome/Neoplasm
Myelodysplastic syndromes (all subtypes)
Myelodysplastic syndromes (D46)
Myelodysplastic Syndromes [Disease/Finding]
Myelodysplastic syndromes
MYELODYSPLASTIC SYNDROME
Myeloid dysplasia
Oligoblastic Leukemia
Preleukaemia
Preleukemia [Disease/Finding]
Preleukemias
Preleukemia
PRELEUKEMIC SYNDROME
Smoldering Leukemia
Smouldering leukaemia
Syndrome, Dysmyelopoietic
Syndrome, Myelodysplastic
Syndromes, Dysmyelopoietic
Syndromes, Myelodysplastic

External Source Codes: 
NCI Thesaurus Code C3247 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN do not use /compl for develop into leukemia MSH
AN myelo- here = bone marrow, not spinal cord MSH
AQL BL BS CF CH CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SC SE SU TH UL UR VE VI MSH
AQL BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source CTEP NCI
Contributing_Source CTRP NCI
Contributing_Source MedDRA NCI
Contributing_Source NICHD NCI
CTV3ID Xa0SY SNOMEDCT_US
CTV3ID XUSpO SNOMEDCT_US
DATE_CREATED 06/24/2010 MEDLINEPLUS
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000073002 SNOMEDCT_US
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 4906 GARD
DX 19770101 MSH
DX 19860101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
EFFECTIVE_TIME 20020731 SNOMEDCT_US
EXCLUDES2 drug-induced aplastic anemia (D61.1) ICD10CM
GENELOCUS ,2,0,q,1,1,.,2,1, OMIM
GENESYMBOL ASXL1 OMIM
GENESYMBOL BOPS OMIM
GENESYMBOL KIAA0978 OMIM
GENESYMBOL MDS OMIM
HAS_GARD_PAGE true GARD
HN 77 MSH
HN 86 MSH
IAN DEFAULT ICD10
ICD-O-3_Code 9989/3 NCI
IDENTIFIER_TYPE_ID 1 GARD
INCLUSION_TERM Alykylating agent related myelodysplastic syndrome ICD10
INCLUSION_TERM Epipodophyllotoxin related myelodysplastic syndrome ICD10
INCLUSION_TERM Myelodysplasia NOS ICD10
INCLUSION_TERM Preleukaemia (syndrome) NOS ICD10
INCLUSION_TERM Therapy related myelodysplastic syndrome NOS ICD10
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2009-01-19T00:00:00 GARD
MDA 19760427 MSH
MDA 19850606 MSH
MESH_DEFINITION Clonal hematopoietic stem cell disorders characterized by dysplasia in one or more hematopoietic cell lineages. They predominantly affect patients over 60, are considered preleukemic conditions, and have high probability of transformation into ACUTE MYELOID LEUKEMIA. NDFRT
MESH_DEFINITION Conditions in which the abnormalities in the peripheral blood or bone marrow represent the early manifestations of acute leukemia, but in which the changes are not of sufficient magnitude or specificity to permit a diagnosis of acute leukemia by the usual clinical criteria. NDFRT
MESH_DUI D009190 NDFRT
MESH_DUI D011289 NDFRT
MESH_NAME Myelodysplastic Syndromes NDFRT
MESH_NAME Preleukemia NDFRT
MESH_UI M0014324 NDFRT
MESH_UI M0017531 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 19950608 MSH
MMR 20090706 MSH
MN C04.834.770 MSH
MN C15.378.190.625 MSH
MN C15.378.800 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
MP_HEALTH_TOPIC_URL https://www.nlm.nih.gov/medlineplus/myelodysplasticsyndromes.html MEDLINEPLUS
MP_OTHER_LANGUAGE_URL Spanish https://www.nlm.nih.gov/medlineplus/spanish/myelodysplasticsyndromes.html MEDLINEPLUS
MP_PRIMARY_INSTITUTE_URL National Cancer Institute http://www.nci.nih.gov/ MEDLINEPLUS
NCI_THESAURUS_CODE C3247 PDQ
NDFRT_KIND DISEASE_KIND NDFRT
Neoplastic_Status Undetermined NCI
NICHD_Hierarchy_Term Myelodysplastic Syndrome NCI
NUI N0000002079 NDFRT
NUI N0000002488 NDFRT
OBS [obs] ICDO
ORDER_NO 03278 ICD10CM
ORDER_NO 03290 ICD10CM
ORIG_STY Neoplasm diagnosis PDQ
PID 2495 PDQ
PM 77 MSH
PM 86 MSH
PRIMARY_PATH 10028533$10028536$10024324$10029104$Myelodysplastic syndrome$Myelodysplastic syndromes$Leukaemias$Neoplasms benign, malignant and unspecified (incl cysts and polyps) MDR
PRIMARY_SOC 10029104 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/7132/myelodysplastic-syndromes/resources/1 GARD
RXAUI 3149549 RXNORM
RXAUI 3200623 RXNORM
RXAUI 3200624 RXNORM
RXAUI 3223425 RXNORM
RXAUI 3223426 RXNORM
RXCUI 1674853 RXNORM
RXCUI 986363 RXNORM
SID HP:0004832 HPO
SID HP:0006730 HPO
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_ADDVERSION 16.1 MDR
SMQ_TERM_ADDVERSION 8.1 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_LMVERSION 16.1 MDR
SMQ_TERM_LMVERSION 8.1 MDR
SMQ_TERM_SCOPE 1 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 109995007 NDFRT
SNOMED_CID 128623006 NDFRT
SNOMED_CID 190229005 NDFRT
SNOMEDID DC-F4831 SNOMEDCT_US
SNOMEDID M-998FF SNOMEDCT_US
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS D46.9 | POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~D46.9 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS D46.9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | DESCENDANTS NOT EXHAUSTIVELY MAPPED SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~D46.9 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~Xa0SY SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUSpO SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~DC-F4831 SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~M-998FF SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERM_LEVEL 2 ICDO
TERM_LEVEL 4 ICDO
TERM_LEVEL Synonym ICDO
TERMUI T027414 MSH
TERMUI T027415 MSH
TERMUI T033279 MSH
TH NLM (1977) MSH
TH NLM (1986) MSH
TH ORD (2010) MSH
TH UNK (19XX) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US
USE_ADDITIONAL code for adverse effect, if applicable, to identify drug (T36-T50 with fifth or sixth character 5) ICD10CM

Additional Concept Data:  (none)

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