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Huntington Disease (CUI C0020179) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0020179

NCI Thesaurus Code: C82342  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A progressive hereditary neurodegenerative disorder inherited in an autosomal dominant fashion. Symptoms may appear at any age and include uncontrolled movements, clumsiness, balance problems, difficulty walking, talking, or swallowing. The disease has a progressive course with a decline in mental abilities, and the development of psychiatric problems.

RADLEX Definition: A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive chorea and dementia in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; depression; hallucinations; and delusions. Eventually intellectual impairment; loss of fine motor control; athetosis; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including seizures; ataxia; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4) [MeSH]

GARD Definition: Huntington disease is a progressive brain disorder that causes degeneration of neurons in the brain. The average age of onset is 35 to 44 years. Symptoms include uncontrolled movements, loss of intellectual abilities, and various emotional and psychiatric problems. People with Huntington disease usually live for about 15 to 20 years after the condition begins. It is caused by a mutation in the HTT gene and is inherited in an autosomal dominant manner. Treatment is symptomatic and supportive, and may include various medications. There is also a less common, early-onset form called juvenile Huntington disease which begins in childhood or adolescence. - this information is from GARD/ORDR/NCATS.

MEDLINEPLUS Definition: 

Huntington's disease (HD) is an inherited disease that causes certain nerve cells in the brain to waste away. People are born with the defective gene, but symptoms usually don't appear until middle age. Early symptoms of HD may include uncontrolled movements, clumsiness, and balance problems. Later, HD can take away the ability to walk, talk, and swallow. Some people stop recognizing family members. Others are aware of their environment and are able to express emotions.

If one of your parents has Huntington's disease, you have a 50 percent chance of getting it. A blood test can tell you if have the HD gene and will develop the disease. Genetic counseling can help you weigh the risks and benefits of taking the test.

There is no cure. Medicines can help manage some of the symptoms, but cannot slow down or stop the disease.

NIH: National Institute of Neurological Disorders and Stroke

CSP Definition: chronic progressive chorea and mental deterioration terminating in dementia; the age of onset usually is in the fourth decade of life.

MSH Definition: A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4)

Synonyms & Abbreviations: (see Synonym Details)
Chorea Huntington
Chorea, Chronic Progressive Hereditary (Huntington)
CHOREA, CHRONIC PROGRESSIVE HEREDITARY
Chorea, Huntington's
Chorea, Huntington
Chronic progressive chorea
Chronic Progressive Hereditary Chorea (Huntington)
Chronic progressive hereditary chorea
HC - Huntington chorea
HD - Huntington chorea
HD
HUNTINGTON CHOREA
Huntington Chronic Progressive Hereditary Chorea
Huntington Disease [Disease/Finding]
Huntington disease
HUNTINGTON DIS
Huntington's chorea (disorder)
Huntington's chorea
Huntington's disease
HUNTINGTONS DIS
Progressive Chorea, Chronic Hereditary (Huntington)
Progressive Chorea, Hereditary, Chronic (Huntington)

External Source Codes: 
NCI Thesaurus Code C82342 (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 900000000000020002 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
CTV3ID F134. SNOMEDCT_US
DATE_CREATED 02/29/2000 MEDLINEPLUS
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 2057-3283 CSP
DISEASE_IDENTIFIER_ID 19082 GARD
DISEASE_IDENTIFIER_ID 19083 GARD
DISEASE_IDENTIFIER_ID 19084 GARD
DISEASE_IDENTIFIER_ID 33032 GARD
DX 20000101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
GENELOCUS ,4,p,1,6,.,3, OMIM
GENESYMBOL HD OMIM
GENESYMBOL HTT OMIM
GENESYMBOL IT15 OMIM
HAS_GARD_PAGE true GARD
HN 2000(1963) MSH
IAN DEFAULT ICD10
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
INCLUSION_TERM Huntington's chorea ICD10
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2009-01-19T00:00:00 GARD
MDA 19990101 MSH
MESH_DEFINITION A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4) NDFRT
MESH_DUI D006816 NDFRT
MESH_NAME Huntington Disease NDFRT
MESH_UI M0010660 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20150630 MSH
MN C10.228.140.079.545 MSH
MN C10.228.140.380.278 MSH
MN C10.228.662.262.249.750 MSH
MN C10.574.500.497 MSH
MN C16.320.400.430 MSH
MN F03.615.250.400 MSH
MN F03.615.400.390 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
MP_HEALTH_TOPIC_URL https://www.nlm.nih.gov/medlineplus/huntingtonsdisease.html MEDLINEPLUS
MP_OTHER_LANGUAGE_URL Spanish https://www.nlm.nih.gov/medlineplus/spanish/huntingtonsdisease.html MEDLINEPLUS
MP_PRIMARY_INSTITUTE_URL National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/ MEDLINEPLUS
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000001558 NDFRT
ORDER_NO 05796 ICD10CM
PM 2000; see HUNTINGTON'S DISEASE 1993-1999; for HUNTINGTON DISEASE see HUNTINGTON'S DISEASE 1993-1999, see HUNTINGTON CHOREA 1977-1992, see CHOREA, HEREDITARY 1963-1976 MSH
PRIMARY_PATH 10070668$10029300$10029299$10010331$Huntington's disease$Neurological disorders congenital NEC$Neurological disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 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 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/6677/huntington-disease/resources/1 GARD
RXAUI 3133107 RXNORM
RXAUI 3133465 RXNORM
RXAUI 3173568 RXNORM
RXAUI 3173569 RXNORM
RXAUI 3173570 RXNORM
RXAUI 3173571 RXNORM
RXAUI 3173579 RXNORM
RXAUI 3173580 RXNORM
RXAUI 3223928 RXNORM
RXAUI 3223929 RXNORM
RXCUI 1022057 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_ADDVERSION 13.1 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 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 58756001 NDFRT
SNOMEDID DA-21120 SNOMEDCT_US
SOS Degeneration of basal ganglia, frontal cortex, and corpus callosum due to a genetic abnormality. AOD
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS G10 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~G10 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS G10 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~G10 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~F134. SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~DA-21120 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 T020576 MSH
TERMUI T020577 MSH
TERMUI T020578 MSH
TERMUI T020579 MSH
TERMUI T364194 MSH
TERMUI T364195 MSH
TERMUI T364235 MSH
TERMUI T364236 MSH
TERMUI T368476 MSH
TH BIOETHICS (1974) MSH
TH GHR (2014) MSH
TH NLM (1978) MSH
TH NLM (1993) MSH
TH NLM (19XX) MSH
TH NLM (2000) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

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