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Tuberous Sclerosis (CUI C0041341) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0041341

NCI Thesaurus Code: C3424  (see NCI Thesaurus info)

Semantic Type: Neoplastic Process

NCIt Definition: Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade.

GARD Definition: Tuberous sclerosis is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. Common signs and symptoms include patches of unusually light-colored skin, areas of raised and thickened skin, and growths under the nails. Tumors on the face called facial angiofibromas are also common beginning in childhood. Tumors may cause developmental problems (e.g., seizures, hyperactivity, aggression, learning problems, autistic-like behaviors). Some tumors can cause serious complications (e.g., those affecting the brain, heart, or kidney). Tuberous sclerosis complex has an autosomal dominant pattern of inheritance and can be caused by mutations in the TSC1 or TSC2 gene. - this information is from GARD/ORDR/NCATS.

MEDLINEPLUS Definition: 

Tuberous sclerosis is a rare genetic disease that causes benign tumors to grow in the brain and other organs. Symptoms vary, depending on where the tumors grow. They could include

  • Skin problems, such as light patches and thickened skin
  • Seizures
  • Behavior problems
  • Intellectual disabilities
  • Kidney problems

Some people have signs of tuberous sclerosis at birth. In others it can take time for the symptoms to develop. The disease can be mild, or it can cause severe disabilities. In rare cases, tumors in vital organs or other symptoms can be life-threatening.

Tuberous sclerosis has no cure, but treatments can help symptoms. Options include medicines, educational and occupational therapy, surgery, or surgery to treat specific complications.

NIH: National Institute of Neurological Disorders and Stroke

NCI-GLOSS Definition: A genetic disorder in which benign (not cancer) tumors form in the kidneys, brain, eyes, heart, lungs, and skin. This disease can cause seizures, mental disabilities, and different types of skin lesions.

CSP Definition: autosomal dominant disease characterized principally by the presences of hamartomas of the brain, retina, and visera; clinical manifestations include mental retardation, seizures, and adenoma sebaceum of the face.

MSH Definition: Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease.

Synonyms & Abbreviations: (see Synonym Details)
adenoma sebaceum syndrome
Bourneville Disease
BOURNEVILLE DIS
Bourneville Phacomatosis
Bourneville Phakomatosis
Bourneville Pringle Disease
Bourneville Pringle's Disease
Bourneville syndrome
Bourneville's disease
Bourneville's syndrome
Bourneville-Pringle Disease
BOURNEVILLE-PRINGLE SYNDROME
Bourneville-Pringle's Disease
Bourneville-Pringles Disease
BOURNEVILLES DIS
Brain sclerosis
Cerebral Scleroses
cerebral sclerosis
Disease, Bourneville-Pringle's
Disease, Bourneville-Pringle
epiloia
Epiloya
Phacomatosis, Bourneville
PHAKOMATOSIS, BOURNEVILLE
Sclerosis Tuberosa
Sclerosis, Cerebral
Sclerosis, Tuberose
Sclerosis, Tuberous
Syndrome, Bourneville's
Syndrome, Bourneville
TS - Tuberous sclerosis
TSC
TS
Tuberose Sclerosis
Tuberous Sclerosis [Disease/Finding]
Tuberous sclerosis complex
Tuberous sclerosis syndrome (disorder)
Tuberous Sclerosis Syndrome
tuberous sclerosis

External Source Codes: 
NCI Thesaurus Code C3424 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AQL BL CF CI CL CN 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
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source CTRP NCI
Contributing_Source NICHD NCI
CTV3ID PK5.. SNOMEDCT_US
DATE_CREATED 09/19/2000 MEDLINEPLUS
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_FIRST_PUBLISHED 2007-01-16 PDQ
DATE_LAST_MODIFIED 2010-02-10 PDQ
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 0727-2535 CSP
DISEASE_IDENTIFIER_ID 34131 GARD
DISEASE_IDENTIFIER_ID 6173 GARD
DISEASE_IDENTIFIER_ID 7575 GARD
DX 19660101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
HAS_GARD_PAGE true GARD
IAN DEFAULT ICD10
ICE Bourneville's disease; Epiloia ICD9CM
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
INCLUSION_TERM Bourneville's disease ICD10
INCLUSION_TERM Epiloia ICD10
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2010-03-26T00:00:00 GARD
MDA 19990101 MSH
MESH_DEFINITION Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease. NDFRT
MESH_DUI D014402 NDFRT
MESH_NAME Tuberous Sclerosis NDFRT
MESH_UI M0022136 NDFRT
MMR 20140613 MSH
MN C04.445.810 MSH
MN C04.651.800 MSH
MN C04.700.632 MSH
MN C10.500.507.400.750 MSH
MN C10.562.850 MSH
MN C10.574.500.865 MSH
MN C16.131.666.507.400.750 MSH
MN C16.320.400.880 MSH
MN C16.320.700.636 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
MP_HEALTH_TOPIC_URL https://www.nlm.nih.gov/medlineplus/tuberoussclerosis.html MEDLINEPLUS
MP_OTHER_LANGUAGE_URL Spanish https://www.nlm.nih.gov/medlineplus/spanish/tuberoussclerosis.html MEDLINEPLUS
MP_PRIMARY_INSTITUTE_URL National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/ MEDLINEPLUS
NCI_THESAURUS_CODE C3424 PDQ
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Tuberous Sclerosis NCI
NUI N0000003054 NDFRT
ORDER_NO 28111 ICD10CM
ORIG_STY Genetic condition PDQ
PRIMARY_PATH 10080584$10010445$10027664$10010331$Tuberous sclerosis complex$Congenital disorders NEC$Congenital and hereditary disorders NEC$Congenital, familial and genetic disorders 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 20.0 MDR
PT_IN_VERSION 20.1 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/7830/tuberous-sclerosis/resources/1 GARD
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/946/bourneville-syndrome/resources/1 GARD
RXAUI 3118502 RXNORM
RXAUI 3118505 RXNORM
RXAUI 3154956 RXNORM
RXAUI 3219577 RXNORM
RXAUI 3219585 RXNORM
RXAUI 3251240 RXNORM
RXAUI 3251241 RXNORM
RXAUI 3605555 RXNORM
RXAUI 3605556 RXNORM
RXAUI 3606391 RXNORM
RXAUI 4222242 RXNORM
RXAUI 4222243 RXNORM
RXAUI 5040031 RXNORM
RXAUI 5930393 RXNORM
RXAUI 5930533 RXNORM
RXAUI 5932233 RXNORM
RXCUI 1022955 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_ADDVERSION 12.0 MDR
SMQ_TERM_ADDVERSION 21.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_LMVERSION 21.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_STATUS I MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 7199000 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q85.1 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~Q85.1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q85.1 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~Q85.1 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~PK5.. 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 T042106 MSH
TERMUI T042107 MSH
TERMUI T042108 MSH
TERMUI T372090 MSH
TERMUI T372091 MSH
TERMUI T373373 MSH
TERMUI T768338 MSH
TERMUI T769422 MSH
TERMUI T769423 MSH
TERMUI T787201 MSH
TERMUI T787202 MSH
TERMUI T811935 MSH
TERMUI T842619 MSH
TERMUI T842620 MSH
TERMUI T842621 MSH
TH GHR (2014) MSH
TH NLM (1966) MSH
TH NLM (2000) MSH
TH NLM (2011) MSH
TH NLM (2012) 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=C0041341

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