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| Terms & Properties |
Concept Unique Identifier (CUI): C0002895
NCI Thesaurus Code: C34383 (see NCI Thesaurus info)
Semantic Type: Disease or Syndrome
NCIt Definition: A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia.
GARD Definition: Sickle cell anemia is a disease in which the body produces abnormally shaped red blood cells that have a crescent or sickle shape. These cells do not last as long as normal, round, red blood cells, which leads to anemia (low number of red blood cells). The sickle cells also get stuck in blood vessels, blocking blood flow. Signs and symptoms of sickle cell disease usually begin in early childhood and may include anemia, repeated infections, and periodic episodes of pain (called crises). This condition is caused by mutations in the HBB gene and is inherited in an autosomal recessive pattern. Treatment typically focuses on controlling symptoms and may include pain medicines during crises; hydroxyurea to reduce the number of pain episodes; antibiotics and vaccines to prevent bacterial infections; and blood transfusions. - this information is from GARD/ORDR/NCATS.
MEDLINEPLUS Definition:
Sickle cell anemia is a disease in which your body produces abnormally shaped red blood cells. The cells are shaped like a crescent or sickle. They don't last as long as normal, round red blood cells. This leads to anemia. The sickle cells also get stuck in blood vessels, blocking blood flow. This can cause pain and organ damage.
A genetic problem causes sickle cell anemia. People with the disease are born with two sickle cell genes, one from each parent. If you only have one sickle cell gene, it's called sickle cell trait. About 1 in 12 African Americans has sickle cell trait.
The most common symptoms are pain and problems from anemia. Anemia can make you feel tired or weak. In addition, you might have shortness of breath, dizziness, headaches, or coldness in the hands and feet.
A blood test can show if you have the trait or anemia. Most states test newborn babies as part of their newborn screening programs.
Sickle cell anemia has no widely available cure. Treatments can help relieve symptoms and lessen complications. Researchers are investigating new treatments such as blood and marrow stem cell transplants, gene therapy, and new medicines.
NIH: National Heart, Lung, and Blood Institute
NICHD Definition: An autosomal recessive disorder characterized by sickle-shaped erythrocytes, anemia, functional asplenia, and episodic acute and chronic organ toxicity due to vaso-occlusion.
NCI-GLOSS Definition: An inherited disease in which the red blood cells have an abnormal crescent shape, block small blood vessels, and do not last as long as normal red blood cells. Sickle cell anemia is caused by a mutation (change) in one of the genes for hemoglobin (the substance inside red blood cells that binds to oxygen and carries it from the lungs to the tissues). It is most common in people of West and Central African descent.
CSP Definition: disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs; the clinical expression of homozygosity for hemoglobin S.
MSH Definition: A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. It is the clinical expression of homozygosity for hemoglobin S.
Synonyms & Abbreviations: (see Synonym Details)
| Anaemia sickle cell |
| Anemia sickle cell |
| Anemia, Sickle Cell [Disease/Finding] |
| ANEMIA, SICKLE CELL |
| Anemias, Sickle Cell |
| Cell Disease, Sickle |
| Cell Diseases, Sickle |
| Cell Disorder, Sickle |
| Cell Disorders, Sickle |
| Disease, Hemoglobin S |
| Drepanocythaemia |
| Drepanocythemia |
| Haemoglobin S disease |
| Haemoglobin S-S disease |
| Hb S disease |
| Hb SS disease |
| HbS disease |
| Hemoglobin S Diseases |
| Hemoglobin S Disease |
| HEMOGLOBIN S DIS |
| hemoglobin S-S disease |
| Hemoglobin SS Disease |
| Hereditary hemoglobinopathy disorder homozygous for hemoglobin S (disorder) |
| Hereditary hemoglobinopathy disorder homozygous for hemoglobin S |
| HERRICK SYNDROME |
| Herrick's anemia |
| SCD |
| Sickle cell anaemia |
| Sickle Cell Anemias |
| sickle cell anemia |
| Sickle cell disease NOS |
| Sickle Cell Diseases |
| sickle cell disease |
| Sickle cell disorders |
| Sickle Cell Disorder |
| SICKLE CELL HEMOLYTIC ANEMIA |
| Sickle cell syndrome |
| Sickle-cell anaemia, unspecified |
| Sickle-cell anaemia |
| Sickle-cell anemia NOS |
| Sickle-cell anemia, unspecified |
| Sickle-cell anemia |
| Sickle-cell disease NOS |
| Sickle-cell disease, unspecified |
| Sickle-cell disease |
| Sickle-cell disorder NOS |
| Sickle-cell disorders |
| sicklemia |
| Sickling disorder due to haemoglobin S |
| Sickling disorder due to hemoglobin S (disorder) |
| Sickling disorder due to hemoglobin S |
External Source Codes:
| NCI Thesaurus Code | C34383 (see NCI Thesaurus info) |
Other Properties:
| Name | Value | Source |
|---|---|---|
| ACTIVE | 1 | SNOMEDCT_US |
| AN | PL 92-294: Natl Sickle Cell Anemia Control Act; sickle cell dis goes here unless specifically HEMOGLOBIN SC DISEASE or HEMOGLOBIN C DISEASE or SICKLE CELL TRAIT or THALASSEMIA; /drug ther: consider also ANTISICKLING AGENTS | MSH |
| AQL | BL CF CI CL 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 |
| CASE_SIGNIFICANCE_ID | 900000000000448009 | SNOMEDCT_US |
| CHARACTERISTIC_TYPE_ID | 900000000000011006 | SNOMEDCT_US |
| Contributing_Source | CTRP | NCI |
| Contributing_Source | NICHD | NCI |
| CTV3ID | X20Cw | SNOMEDCT_US |
| CTV3ID | XUcrZ | SNOMEDCT_US |
| DATE_CREATED | 09/23/1999 | MEDLINEPLUS |
| DATE_CREATED | 2013-01-09T00:04:00 | GARD |
| DATE_CREATED | 2015-01-22T00:04:00 | GARD |
| DATE_FIRST_PUBLISHED | 2007-06-15 | PDQ |
| DATE_LAST_MODIFIED | 2010-02-08 | PDQ |
| DATE_LAST_MODIFIED | 2013-01-09T00:04:00 | GARD |
| DC | 1 | MSH |
| DEFINITION_STATUS_ID | 900000000000074008 | SNOMEDCT_US |
| DID | 1418-5709 | CSP |
| DISEASE_IDENTIFIER_ID | 19632 | GARD |
| DISEASE_IDENTIFIER_ID | 19633 | GARD |
| DISEASE_IDENTIFIER_ID | 19634 | GARD |
| DISEASE_IDENTIFIER_ID | 31595 | GARD |
| DX | 19660101 | MSH |
| EFFECTIVE_TIME | 20020131 | SNOMEDCT_US |
| EFFECTIVE_TIME | 20050731 | SNOMEDCT_US |
| EXCLUDES1 | other hemoglobinopathies (D58.-) | ICD10CM |
| FX | D000986 | MSH |
| GENELOCUS | ,1,1,p,1,5,.,5, | OMIM |
| GENESYMBOL | HBB | OMIM |
| HAS_GARD_PAGE | true | GARD |
| IAN | DEFAULT | ICD10 |
| IDENTIFIER_SOURCE | Orp | GARD |
| IDENTIFIER_TYPE_ID | 1 | GARD |
| IS_ACTIVE | true | GARD |
| IS_RARE | true | GARD |
| IS_SPANISH | false | GARD |
| LAST_REVIEW_ACTION | Modified | GARD |
| LAST_REVIEW_DATE | 2007-01-30T00:00:00 | GARD |
| MDA | 19990101 | MSH |
| MESH_DEFINITION | A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. It is the clinical expression of homozygosity for hemoglobin S. | NDFRT |
| MESH_DUI | D000755 | NDFRT |
| MESH_NAME | Anemia, Sickle Cell | NDFRT |
| MESH_UI | M0001140 | NDFRT |
| MIMTYPE | 3 | OMIM |
| MIMTYPEMEANING | Phenotype description, molecular basis known. | OMIM |
| MIMTYPEVALUE | pound | OMIM |
| MMR | 20130708 | MSH |
| MN | C15.378.071.141.150.150 | MSH |
| MN | C15.378.420.155 | MSH |
| MN | C16.320.070.150 | MSH |
| MN | C16.320.365.155 | MSH |
| MODIFIER_ID | 900000000000451002 | SNOMEDCT_US |
| MP_HEALTH_TOPIC_URL | https://www.nlm.nih.gov/medlineplus/sicklecellanemia.html | MEDLINEPLUS |
| MP_OTHER_LANGUAGE_URL | Spanish https://www.nlm.nih.gov/medlineplus/spanish/sicklecellanemia.html | MEDLINEPLUS |
| MP_PRIMARY_INSTITUTE_URL | National Heart, Lung, and Blood Institute http://www.nhlbi.nih.gov/ | MEDLINEPLUS |
| NCI_THESAURUS_CODE | C34383 | PDQ |
| NDFRT_KIND | DISEASE_KIND | NDFRT |
| NICHD_Hierarchy_Term | Sickle Cell Disease | NCI |
| NUI | N0000000399 | NDFRT |
| ORDER_NO | 03372 | ICD10CM |
| ORIG_STY | Genetic condition | PDQ |
| PRIMARY_PATH | 10040641$10018903$10005330$10010331$Sickle cell anaemia$Haemoglobinopathies congenital$Blood and lymphatic system disorders congenital$Congenital, familial and genetic disorders | MDR |
| PRIMARY_PATH | 10040644$10018903$10005330$10010331$Sickle cell disease$Haemoglobinopathies congenital$Blood and lymphatic system disorders congenital$Congenital, familial and genetic disorders | MDR |
| PRIMARY_SOC | 10010331 | 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/8614/sickle-cell-anemia/resources/1 | GARD |
| RXAUI | 3108993 | RXNORM |
| RXAUI | 3108994 | RXNORM |
| RXAUI | 3171777 | RXNORM |
| RXAUI | 3238182 | RXNORM |
| RXAUI | 3288648 | RXNORM |
| RXAUI | 3288649 | RXNORM |
| RXAUI | 3288650 | RXNORM |
| RXAUI | 5931096 | RXNORM |
| RXCUI | 1022835 | RXNORM |
| SMQ_TERM_ADDVERSION | 10.0 | 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 | 21.0 | MDR |
| SMQ_TERM_SCOPE | 2 | MDR |
| SMQ_TERM_STATUS | A | MDR |
| SMQ_TERM_WEIGHT | 0 | MDR |
| SNOMED_CID | 127040003 | NDFRT |
| SNOMED_CID | 191195005 | NDFRT |
| SNOMED_CID | 417357006 | NDFRT |
| SOS | Excludes: sickle-cell thalassemia (282.41-282.42); sickle-cell trait (282.5) | ICD9CM |
| SUBSET_MEMBER | 447562003~CORRELATIONID~447561005 | SNOMEDCT_US |
| SUBSET_MEMBER | 447562003~MAPADVICE~ALWAYS D57.1 | 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~D57.1 | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~CORRELATIONID~447561005 | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPADVICE~ALWAYS D57.1 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | DESCENDANTS NOT EXHAUSTIVELY MAPPED | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPADVICE~ALWAYS D57.1 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPADVICE~IF ACUTE SICKLE CELL SPLENIC SEQUESTRATION CRISIS CHOOSE D57.02 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPADVICE~IF HEMOGLOBIN SS DISEASE WITH CRISIS CHOOSE D57.00 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPADVICE~IF SICKLE CELL ANEMIA IN MOTHER COMPLICATING CHILDBIRTH CHOOSE D57.1 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPADVICE~IF SICKLE CELL ANEMIA IN MOTHER COMPLICATING CHILDBIRTH CHOOSE O99.02 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPADVICE~IF SICKLE CELL ANEMIA WITH COEXISTENT ALPHA-THALASSEMIA CHOOSE D56.0 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPADVICE~IF SICKLE CELL ANEMIA WITH HIGH HEMOGLOBIN F CHOOSE D57.80 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPCATEGORYID~447637006 | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPCATEGORYID~447638001 | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPCATEGORYID~447639009 | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPGROUP~1 | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPGROUP~2 | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPPRIORITY~1 | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPPRIORITY~2 | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPPRIORITY~3 | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPPRIORITY~4 | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPPRIORITY~5 | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPRULE~IFA 10759351000119103 | Sickle cell anemia in mother complicating childbirth | | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPRULE~IFA 127045008 | Sickle cell anemia with coexistent alpha-thalassemia | | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPRULE~IFA 234391009 | Sickle cell anemia with high hemoglobin F | | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPRULE~IFA 417425009 | Hemoglobin SS disease with crisis | | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPRULE~IFA 444108000 | Acute sickle cell splenic sequestration crisis | | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPRULE~OTHERWISE TRUE | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPRULE~TRUE | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPTARGET~D56.0 | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPTARGET~D57.00 | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPTARGET~D57.02 | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPTARGET~D57.1 | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPTARGET~D57.80 | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPTARGET~O99.02 | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPTARGET~ | SNOMEDCT_US |
| SUBSET_MEMBER | 900000000000497000~MAPTARGET~X20Cw | SNOMEDCT_US |
| SUBSET_MEMBER | 900000000000497000~MAPTARGET~XUcrZ | 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 | T002255 | MSH |
| TERMUI | T002256 | MSH |
| TERMUI | T002257 | MSH |
| TERMUI | T751178 | MSH |
| TERMUI | T751179 | MSH |
| TERMUI | T751180 | MSH |
| TERMUI | T843440 | MSH |
| TH | BIOETHICS (1974) | MSH |
| TH | GHR (2014) | MSH |
| TH | NLM (1966) | MSH |
| TH | NLM (1992) | MSH |
| TH | NLM (1998) | MSH |
| TH | NLM (2010) | MSH |
| TH | NLM (2014) | MSH |
| TH | OMIM (2013) | MSH |
| TH | ORD (2010) | MSH |
| TYPE_ID | 900000000000003001 | SNOMEDCT_US |
| TYPE_ID | 900000000000013009 | SNOMEDCT_US |
| USE_ADDITIONAL | code for any associated fever (R50.81) | ICD10CM |
Additional Concept Data: (none)
URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0002895
