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Bloom Syndrome (CUI C0005859) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0005859

NCI Thesaurus Code: C2903  (see NCI Thesaurus info)

Semantic Type: Congenital Abnormality

Semantic Type: Disease or Syndrome

NCIt Definition: Bloom syndrome is an autosomal recessive disorder associated with mutations in BLM gene encoding protein that belongs to the family of DNA helicases. It is characterized by predisposition to cancer, immunodeficiency, high sensitivity to UV and genomic instability of somatic cells. (Oncogene 2001 Dec 13;20(57):8276-80)

GARD Definition: Bloom syndrome is a disorder characterized by a significantly increased risk of cancer and various other features. Signs and symptoms include short stature; sun-sensitive skin changes on the face, hands and/or arms; a high-pitched voice; and distinctive facial features including a long, narrow face, small lower jaw, large nose and prominent ears. Some affected individuals may also have learning disabilities; an increased risk of diabetes; chronic obstructive pulmonary disease (COPD); and recurrent infections of the upper respiratory tract, ears, and lungs during infancy. Cancers may include any of those found in the general population, but develop much earlier in life in affected individuals. It is caused by mutations in the BLM gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive. - this information is from GARD/ORDR/NCATS.

NCI-GLOSS Definition: A rare, inherited disorder marked by height that is shorter than average, a narrow face with redness and a rash, a high-pitched voice, and fertility problems. Patients with this disorder have an increased risk of cancer, especially leukemia and osteosarcoma (bone cancer). Bloom syndrome is caused by changes in a protein that normally helps cells make copies of the DNA. Changes in this protein cause many breaks, rearrangements, and other mutations in the DNA. It is a type of autosomal recessive genetic disease.

CSP Definition: autosomal recessive disorder characterized by telangiectatic erythema of the face, photosensitivity, dwarfism, and other abnormalities.

MSH Definition: An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.

Synonyms & Abbreviations: (see Synonym Details)
BLM
Bloom syndrome (disorder)
Bloom Syndrome [Disease/Finding]
Bloom syndrome
Bloom Torre Machacek Syndrome
Bloom's Syndrome
Bloom-Torre-Machacek syndrome
BLS
BS - Bloom syndrome
BSyn
BS
Congenital Telangiectatic Erythema Syndrome
Congenital Telangiectatic Erythema
Growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability
Syndrome, Bloom-Torre-Machacek
Syndrome, Bloom

External Source Codes: 
NCI Thesaurus Code C2903 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
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 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
CTV3ID X20IY SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_FIRST_PUBLISHED 2009-09-08 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 1254-7913 CSP
DISEASE_IDENTIFIER_ID 30496 GARD
DISEASE_IDENTIFIER_ID 7483 GARD
DISEASE_IDENTIFIER_ID 7484 GARD
DISEASE_IDENTIFIER_ID 7485 GARD
DISEASE_IDENTIFIER_ID 7486 GARD
DISEASE_IDENTIFIER_ID 7487 GARD
DISEASE_IDENTIFIER_ID 7488 GARD
DX 19820101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
GENELOCUS ,1,5,q,2,6,.,1, OMIM
GENESYMBOL BLM OMIM
GENESYMBOL BS OMIM
GENESYMBOL RECQ2 OMIM
GENESYMBOL RECQL3 OMIM
HAS_GARD_PAGE true GARD
HN 82 MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2010-02-17T00:00:00 GARD
MDA 19810223 MSH
MESH_DEFINITION An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase. NDFRT
MESH_DUI D001816 NDFRT
MESH_NAME Bloom Syndrome NDFRT
MESH_UI M0002734 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C16.131.077.137 MSH
MN C18.452.284.100 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NCI_THESAURUS_CODE C2903 PDQ
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000000579 NDFRT
ORIG_STY Genetic condition PDQ
PM 82 MSH
PRIMARY_PATH 10073032$10029513$10028396$10010331$Bloom syndrome$Musculoskeletal disorders congenital NEC$Musculoskeletal and connective tissue disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 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
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/915/bloom-syndrome/resources/1 GARD
RXAUI 3118198 RXNORM
RXAUI 3118199 RXNORM
RXAUI 3118201 RXNORM
RXAUI 5930392 RXNORM
RXAUI 5930618 RXNORM
RXCUI 1028411 RXNORM
SMQ_TERM_ADDVERSION 16.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 16.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 4434006 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q82.8 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~Q82.8 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q82.8 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~Q82.8 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~X20IY 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 T005260 MSH
TERMUI T005261 MSH
TERMUI T841039 MSH
TERMUI T841040 MSH
TH GHR (2014) MSH
TH NLM (1982) MSH
TH NLM (2014) 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)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0005859

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