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Benign Hereditary Chorea (CUI C0393584) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0393584

Semantic Type: Disease or Syndrome

GARD Definition: Benign hereditary chorea (BHC) is a rare movement disorder that begins in infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can have normal intellect, but may have learning and behavior problems. Other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections). Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion. - this information is from GARD/ORDR/NCATS.

Synonyms & Abbreviations: (see Synonym Details)
BCH
Benign familial chorea
Benign hereditary chorea (disorder)
Benign Hereditary Choreas
Benign hereditary chorea
BHC
Chorea familial benign
Chorea, Benign Hereditary
Choreas, Benign Hereditary
Hereditary benign chorea
Hereditary Chorea, Benign
Hereditary Choreas, Benign
Hereditary Progressive Chorea Without Dementia

External Source Codes:  (none)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
CTV3ID X0045 SNOMEDCT_US
DATE_CREATED 2014-01-07T00:08:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2014-01-07T00:08:00 GARD
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 23440 GARD
DISEASE_IDENTIFIER_ID 30697 GARD
DISEASE_IDENTIFIER_ID 30698 GARD
EFFECTIVE_TIME 20020131 SNOMEDCT_US
GENELOCUS ,1,4,q,1,3, OMIM
GENESYMBOL NKX2-1 OMIM
GENESYMBOL NKX2A OMIM
GENESYMBOL NMTC1 OMIM
GENESYMBOL TITF1 OMIM
GENESYMBOL TTF1 OMIM
HAS_GARD_PAGE true GARD
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_ACTION Modified GARD
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/1305/benign-hereditary-chorea/resources/1 GARD
SNOMEDID DF-0088B SNOMEDCT_US
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS G25.5 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q07.9 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~2 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~G25.5 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~Q07.9 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS G25.5 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~G25.5 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~X0045 SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~DF-0088B SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
TERMUI T367089 MSH
TERMUI T812346 MSH
TH NLM (2000) MSH
TH OMIM (2013) 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=C0393584

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