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Sideroblastic anemia (CUI C0002896) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0002896

NCI Thesaurus Code: C36078  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: Anemia characterized by the production of ringed sideroblasts instead of healthy red blood cells.

GARD Definition: Sideroblastic anemia is a heterogeneous group of blood disorders characterized by an impaired ability of the bone marrow to produce normal red blood cells. The iron inside red blood cells is inadequately used to make hemoglobin, despite adequate or increased amounts of iron. Abnormal red blood cells called sideroblasts are found in the blood of people with these anemias. Sideroblastic anemias are classified as hereditary, acquired, and reversible. - this information is from GARD/ORDR/NCATS.

HPO Definition: A type of sideroblastic anemia that is not responsive to treatment. [HPO:probinson]

HPO Definition: Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining). [HPO:probinson]

NICHD Definition: A form of anemia in which the bone marrow produces ringed sideroblasts (erythrocytes in which the iron granules are arranged in ring form within the mitochondria inside the nucleus) in place of mature erythrocytes.

CSP Definition: acquired or hereditary anemia marked by sideroblasts: bone marrow cells with large mitochondrial deposits of insoluble iron due to defective heme synthesis, leading to ineffective erythropoiesis.

MSH Definition: Anemia characterized by the presence of erythroblasts containing excessive deposits of iron in the marrow.

Synonyms & Abbreviations: (see Synonym Details)
ANAEMIA SIDEROBLASTIC
ANEMIA SIDEROBLASTIC
Anemia, primary sideroblastic
Anemia, sideroachrestic
Anemia, Sideroblastic [Disease/Finding]
Anemia, Sideroblastic
Anemias, Sideroblastic
Hypersideremic anemia
Primary sideroblastic anaemia
Primary sideroblastic anemia
Refractory sideroblastic anaemia
Refractory sideroblastic anemia
Sideroachrestic anaemia
Sideroachrestic anemia
Sideroblastic anaemia NOS
Sideroblastic anaemia
Sideroblastic anemia (disorder)
Sideroblastic anemia NOS
Sideroblastic Anemias
sideroblastic anemia

External Source Codes: 
NCI Thesaurus Code C36078 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
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 900000000000448009 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID D210. SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 0427-3427 CSP
DISEASE_IDENTIFIER_ID 7003 GARD
DX 19670101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
HAS_GARD_PAGE true GARD
HN 67; was ANEMIA, SIDEROBLASTIC REFRACTORY 1963-66 (Prov 1966) MSH
HPO_COMMENT Sideroblastic anemia may be either congenital or acquired. In sideroblastic anemia, the hematocrit tends to be around 20 to 30 percent, and the mean corpuscular volume is normal or low. HPO
ICA Use additional E code to identify cause, if drug-induced ICD9CM
ICE Anemia: {hypochromic with iron loading; sideroachrestic; sideroblastic; acquired; congenital; hereditary; primary; refractory; secondary (drug-induced) (due to disease); sex-linked hypochromic; vitamin B6-responsive}; Pyridoxine-responsive (hypochromic) anemia ICD9CM
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE false GARD
IS_SPANISH false GARD
MDA 19990101 MSH
MESH_DEFINITION Anemia characterized by the presence of erythroblasts containing excessive deposits of iron in the marrow. NDFRT
MESH_DUI D000756 NDFRT
MESH_NAME Anemia, Sideroblastic NDFRT
MESH_UI M0001141 NDFRT
MMR 19900329 MSH
MN C15.378.071.419 MSH
MN C15.378.190.625.070 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Sideroblastic Anemia NCI
NUI N0000000400 NDFRT
OL use ANEMIA, SIDEROBLASTIC to search ANEMIA, SIDEROBLASTIC REFRACTORY 1966 (as Prov 1966) MSH
PM 67 MSH
PRIMARY_PATH 10040661$10002067$10002086$10005329$Sideroblastic anaemia$Anaemias NEC$Anaemias nonhaemolytic and marrow depression$Blood and lymphatic system disorders MDR
PRIMARY_SOC 10005329 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 20.0 MDR
PT_IN_VERSION 20.1 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/667/sideroblastic-anemia/resources/1 GARD
RXAUI 3108995 RXNORM
RXAUI 3108996 RXNORM
RXCUI 1022502 RXNORM
SID HP:0100791 HPO
SMQ_TERM_ADDVERSION 16.1 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 16.1 MDR
SMQ_TERM_SCOPE 1 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 41841004 NDFRT
SOS Any anemia associated with numerous ringed sideroblasts in the bone marrow. The sideroblastic anemias are a group of disorders characterized by altered mitochondrial function resulting in impaired heme synthesis. In most types of sideroblastic anemia, the heme biosynthesis defect is at the delta-aminolevulinic acid step and involves abnormalities of vitamin B6 metabolism. However, other enzymatic defects in the porphyrin biosynthetic pathway have been described. Alcohol-induced sideroblastic anemia and idiopathic refractory sideroblastic anemia are complex disorders. The biochemical features of these two diseases cannot be explained solely on the basis of decreased delta-aminolevulinic acid synthetase activity and altered vitamin B6 metabolism. It is suggested that heme synthetase activity might be decreased in bone marrow erythroblasts in these two types of sideroblastic anemia. (Source: Advances in Internal Medicine, 22:229-249, 1977). AOD
SOS Excludes: refractory sideroblastic anemia (238.72) ICD9CM
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS D64.3 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~D64.3 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS D64.3 | 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~D64.3 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~D210. 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
TERMUI T002258 MSH
TH NLM (1963) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

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