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GENIOSPASM 1 (CUI C1860972) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C1860972

Semantic Type: Disease or Syndrome

GARD Definition: Hereditary geniospasm is a movement disorder that causes episodes of involuntary tremors of the chin and lower lip. The episodes may last anywhere from a few seconds to hours and may occur spontaneously or be brought on by stress. The episodes usually first appear in infancy or childhood and tend to lessen in frequency with age. Hereditary geniospasm is believed to be inherited in an autosomal dominant pattern. Although the exact gene(s) that cause the condition are unknown, it has been suggested that mutations in a gene on chromosome 9 may be responsible in some families. - this information is from GARD/ORDR/NCATS.

HPO Definition: Involuntary and irregular twitches of the chin. [HPO:probinson, pmid:16816905]

SNOMEDCT_US Definition: A movement disorder with manifestation of episodes of involuntary tremor of the chin and lower lip. The disorder has been described in less than 25 families from Europe and the USA, with a slight male preponderance. Onset usually occurs in childhood and may be precipitated by stress and emotion. Episodes may occur during sleep. There are no associated neurological abnormalities. Spontaneous improvement with age is possible. Inheritance is autosomal dominant.

Synonyms & Abbreviations: (see Synonym Details)
Chin myoclonus
Chin spasms
Familial trembling of chin
Familial trembling of the chin
Geniospasm 1
Geniospasm
GSM 1
GSM1
Hereditary chin myoclonus
Hereditary chin trembling
Hereditary chin tremor/myoclonus
Hereditary chin-trembling
Hereditary geniospasm (disorder)
Hereditary geniospasm
Trembling chin

External Source Codes:  (none)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
CTV3ID XUtbA SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2013-11-24T12:26:38Z HPO
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 20302 GARD
DISEASE_IDENTIFIER_ID 20303 GARD
DISEASE_IDENTIFIER_ID 20304 GARD
DISEASE_IDENTIFIER_ID 20305 GARD
DISEASE_IDENTIFIER_ID 33274 GARD
DISEASE_IDENTIFIER_ID 33275 GARD
DISEASE_IDENTIFIER_ID 33276 GARD
EFFECTIVE_TIME 20160731 SNOMEDCT_US
FR 3 MSH
GENELOCUS ,9,q,1,3,-,q,2,1, OMIM
GENESYMBOL GSM1 OMIM
GENESYMBOL GSP OMIM
HAS_GARD_PAGE true GARD
HM D007571 MSH
HM D014202 MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
MDA 20100825 MSH
MIMTYPE 5 OMIM
MIMTYPEMEANING Mendelian phenotype or locus, molecular basis unknown. OMIM
MIMTYPEVALUE perc OMIM
MMR 20121105 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/9501/geniospasm/resources/1 GARD
RN 0 MSH
SC 3 MSH
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS G51.3 | MAPPED FOLLOWING WHO GUIDANCE 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~G51.3 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS G51.8 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~G51.8 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUtbA 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 T743392 MSH
TERMUI T743394 MSH
TERMUI T743395 MSH
TERMUI T807822 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=C1860972

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