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Fanconi Anemia (CUI C0015625) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0015625

NCI Thesaurus Code: C62505  (see NCI Thesaurus info)

Semantic Type: Congenital Abnormality

Semantic Type: Disease or Syndrome

NCIt Definition: An autosomal recessive genetic disorder characterized by bone marrow failure, skeletal abnormalities, and an increase incidence of development of neoplasias.

GARD Definition: Fanconi anemia is an inherited condition that affects the bone marrow, resulting in decreased production of all types of blood cells. People with this condition have lower-than-normal numbers of white blood cells, red blood cells, and platelets (cells that help the blood clot). Not enough white blood cells can lead to infections; a lack of red blood cells may result in anemia; and a decreased amount of platelets may lead to excess bleeding. Fanconi anemia can be caused by mutations in various genes; it can either be inherited in an autosomal recessive or X-linked recessive fashion. - this information is from GARD/ORDR/NCATS.

NCI-GLOSS Definition: A rare inherited disorder in which the bone marrow does not make blood cells. It is usually diagnosed in children between 2 and 15 years old. Symptoms include frequent infections, easy bleeding, and extreme tiredness. People with Fanconi anemia may have a small skeleton and brown spots on the skin. They also have an increased risk of developing certain types of cancer.

NICHD Definition: A chromosomal instability syndrome that is the most common form of inherited aplastic anemia. It is inherited as an autosomal recessive or X-linked disorder. In addition to bone marrow failure, it is associated with skeletal abnormalities and increased incidence of the development of malignancy. Multiple genes are responsible for Fanconi anemia.

CSP Definition: familial or idiopathic form, usually fatal; Fanconi's anemia presents before age 10, marked by microcephaly, skin discolorations, and sexual and mental retardation.

MSH Definition: Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004)

Synonyms & Abbreviations: (see Synonym Details)
Anemia, Fanconi's
Anemia, Fanconi
Anemias, Fanconi
congenital aplastic anemia
Fanconi Anemia [Disease/Finding]
Fanconi Anemias
FANCONI ANEMIA
Fanconi Hypoplastic Anemia
Fanconi pancytopenia syndrome
Fanconi pancytopenia
Fanconi Panmyelopathy
Fanconi's anaemia
Fanconi's anemia (disorder)
Fanconi's anemia
Fanconi's familial refractory anaemia
Fanconi's familial refractory anemia
Fanconi's hypoplastic anaemia
Fanconi's hypoplastic anemia
FA
Pancytopenia, Congenital
Pancytopenia-dysmelia syndrome
PANMYELOPATHY, FANCONI
PRIMARY ERYTHROID HYPOPLASIA

External Source Codes: 
NCI Thesaurus Code C62505 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN do not confuse with FANCONI SYNDROME, a dysfunction of proximal renal tubules 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
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source CTRP NCI
Contributing_Source NICHD NCI
CTV3ID D2001 SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_FIRST_PUBLISHED 2003-02-21 PDQ
DATE_LAST_MODIFIED 2010-02-10 PDQ
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 0427-0659 CSP
DISEASE_IDENTIFIER_ID 18540 GARD
DISEASE_IDENTIFIER_ID 18541 GARD
DX 19910101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
HAS_GARD_PAGE true GARD
HN 2002(1975); was see under ANEMIA, APLASTIC 1975-1990 MSH
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2007-05-16T00:00:00 GARD
MDA 19741111 MSH
MESH_DEFINITION Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004) NDFRT
MESH_DUI D005199 NDFRT
MESH_NAME Fanconi Anemia NDFRT
MESH_UI M0008227 NDFRT
MMR 20130708 MSH
MN C15.378.071.085.080.280 MSH
MN C15.378.190.196.080.280 MSH
MN C16.320.077.280 MSH
MN C18.452.284.280 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NCI_THESAURUS_CODE C62505 PDQ
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Fanconi Anemia NCI
NUI N0000001209 NDFRT
ORIG_STY Genetic condition PDQ
PM 2002; see FANCONI'S ANEMIA 1991-2001; was see under ANEMIA, APLASTIC 1975-1990 MSH
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/6425/fanconi-anemia/resources/1 GARD
RXAUI 3108953 RXNORM
RXAUI 3159792 RXNORM
RXAUI 3159827 RXNORM
RXAUI 3159831 RXNORM
RXAUI 5930932 RXNORM
RXAUI 5930933 RXNORM
RXAUI 5930934 RXNORM
RXCUI 1024862 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_ADDVERSION 8.1 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_LMVERSION 8.1 MDR
SMQ_TERM_SCOPE 1 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_STATUS I MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 30575002 NDFRT
SNOMEDID D4-00907 SNOMEDCT_US
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS D61.0 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~D61.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS D61.09 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~D61.09 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~D2001 SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~D4-00907 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 T015952 MSH
TERMUI T015953 MSH
TERMUI T443844 MSH
TERMUI T841427 MSH
TERMUI T841428 MSH
TERMUI T841429 MSH
TH GHR (2014) MSH
TH NLM (1975) MSH
TH NLM (2002) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TH UNK (19XX) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

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