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Benign essential blepharospasm (CUI C2930898) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C2930898

Semantic Type: Disease or Syndrome

GARD Definition: Benign essential blepharospasm is a progressive neurological disorder characterized by involuntary muscle contractions and spasms of the eyelid muscles. It is a form of dystonia, a movement disorder in which muscle contractions cause sustained eyelid closure, twitching or repetitive movements. Benign essential blepharospasm occurs in both men and women, although it is especially common in middle-aged and elderly women. Most cases are treated with botulinum toxin injections. The exact cause of benign essential blepharospasm is unknown. - this information is from GARD/ORDR/NCATS.

Synonyms & Abbreviations: (see Synonym Details)
BEB
Benign Essential Blepharospasm
Blepharospasm (disorder)
Blepharospasm (spasm of eyelid)
Blepharospasm, Benign Essential
Blepharospasm
Essential Blepharospasm
Eyelid Twitching
Primary Blepharospasm
Spasm of Eyelids

External Source Codes:  (none)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
CTV3ID F1380 SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 17580 GARD
DISEASE_IDENTIFIER_ID 17581 GARD
EFFECTIVE_TIME 20100731 SNOMEDCT_US
FR 58 MSH
GENELOCUS ,4,p,1,6,.,1,-,p,1,5,.,3, OMIM
GENESYMBOL DRD1B OMIM
GENESYMBOL DRD1L2 OMIM
GENESYMBOL DRD5 OMIM
HAS_GARD_PAGE true GARD
HM D001764 MSH
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
MDA 20100825 MSH
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20150817 MSH
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/5909/blepharospasm/resources/1 GARD
RN 0 MSH
SC 3 MSH
SNOMEDID DA-21141 SNOMEDCT_US
SOS A DYSTONIC DISORDER that affects the orbicularis oculi muscles; onset is typically in middle age. Symptoms include eye irritation and frequent BLINKING, progressing to involuntary SPASMS of eyelid closure and possibly functional blindness. It is likely caused by a combination of multiple genetic and environmental factors and may be associated with polymorphisms in the DRD5 gene. OMIM: 606798 MSH
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS G24.5 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~G24.5 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS G24.5 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~G24.5 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~F1380 SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~DA-21141 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 T736021 MSH
TERMUI T811293 MSH
TERMUI T840995 MSH
TERMUI T840996 MSH
TERMUI T840997 MSH
TERMUI T840998 MSH
TH GHR (2014) MSH
TH OMIM (2013) MSH
TH ORD (2010) 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=C2930898

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