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Bernard-Soulier Syndrome (CUI C0005129) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0005129

NCI Thesaurus Code: C84595  (see NCI Thesaurus info)

Semantic Type: Congenital Abnormality

Semantic Type: Disease or Syndrome

NCIt Definition: A rare, autosomal recessive bleeding disorder characterized by deficiency or absence of the Ib/IX/V complex on the surface of platelets. It results in thrombocytopenia, prolonged bleeding time and the presence of giant platelets.

NICHD Definition: A rare, autosomal recessive bleeding disorder characterized by deficiency or absence of the Ib/IX/V complex on the surface of platelets. It results in thrombocytopenia, prolonged bleeding and the presence of giant platelets.

MSH Definition: A familial coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, and impaired prothrombin consumption.

Synonyms & Abbreviations: (see Synonym Details)
Bernard Soulier syndrome (disorder)
Bernard Soulier syndrome
Bernard-Soulier Syndrome [Disease/Finding]
Bernard-Soulier syndrome
BSS
Giant platelet disease
Giant platelet syndrome (disorder)
Giant platelet syndrome
Macrothrombocytopenia, familial Bernard-Soulier type
Platelet Glycoprotein Ib Deficiency
Platelet Syndromes, Giant
Syndrome, Bernard-Soulier
Syndrome, Giant Platelet
Syndromes, Giant Platelet
Thrombopathy, Bernard-Soulier

External Source Codes: 
NCI Thesaurus Code C84595 (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
Contributing_Source NICHD NCI
CTV3ID X20Et SNOMEDCT_US
CTV3ID X20F4 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 4001-0130 CSP
DISEASE_IDENTIFIER_ID 10000 GARD
DISEASE_IDENTIFIER_ID 9993 GARD
DISEASE_IDENTIFIER_ID 9994 GARD
DISEASE_IDENTIFIER_ID 9998 GARD
DX 19910101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
GENELOCUS ,1,7,p,t,e,r,-,p,1,2, OMIM
GENESYMBOL BDPLT1 OMIM
GENESYMBOL BDPLT3 OMIM
GENESYMBOL BSS OMIM
GENESYMBOL GP1BA OMIM
GENESYMBOL VWDP OMIM
HAS_GARD_PAGE true GARD
HN 1991(1986) MSH
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
MDA 19850311 MSH
MESH_DEFINITION A familial coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, and impaired prothrombin consumption. NDFRT
MESH_DUI D001606 NDFRT
MESH_NAME Bernard-Soulier Syndrome NDFRT
MESH_UI M0002403 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20120703 MSH
MN C15.378.100.100.080 MSH
MN C15.378.140.120 MSH
MN C15.378.463.080 MSH
MN C16.320.099.080 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Bernard-Soulier Syndrome NCI
NUI N0000000541 NDFRT
PM 1991; see BLOOD PLATELET DISORDERS 1986-1990 MSH
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/2470/giant-platelet-syndrome/resources/1 GARD
RXAUI 3117454 RXNORM
RXAUI 3117455 RXNORM
RXAUI 3165399 RXNORM
RXCUI 989400 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 234478007 NDFRT
SNOMED_CID 54569005 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS D69.1 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~D69.1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS D69.1 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~D69.1 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~X20Et SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~X20F4 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 T004624 MSH
TERMUI T004625 MSH
TH NLM (1986) 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=C0005129

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