MeSH Browser

MeSH Heading: Tuberous Sclerosis
Tree Number(s): C04.445.810; C04.651.800; C04.700.700; C10.500.507.400.750; C10.562.850; C10.574.500.865; C16.131.666.507.400.750; C16.320.400.880; C16.320.700.700
Unique ID: D014402
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D014402
Scope Note: 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.
Entry Term(s): Adenoma Sebaceum; Bourneville Disease; Bourneville Phakomatosis; Bourneville Syndrome; Bourneville's Disease; Bourneville's Syndrome; Bourneville-Pringle Disease; Bourneville-Pringle's Disease; Cerebral Sclerosis; Epiloia; Phacomatosis, Bourneville; Phakomatosis, Bourneville; Sclerosis Tuberosa; Tuberose Sclerosis; Tuberous Sclerosis Complex
NLM Classification #: QS 675
Date Established: 1966/01/01
Date of Entry: 1999/01/01
Revision Date: 2018/06/29

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

congenital (CN)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Neoplasms [C04]
- Hamartoma [C04.445]

Neoplasms [C04]
- Neoplasms, Multiple Primary [C04.651]

Neoplasms [C04]
- Neoplastic Syndromes, Hereditary [C04.700]

Nervous System Diseases [C10]
- Nervous System Malformations [C10.500]
  - Malformations of Cortical Development [C10.500.507]
    - Malformations of Cortical Development, Group I [C10.500.507.400]

Nervous System Diseases [C10]
- Neurocutaneous Syndromes [C10.562]

Nervous System Diseases [C10]
- Neurodegenerative Diseases [C10.574]
  - Heredodegenerative Disorders, Nervous System [C10.574.500]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Congenital Abnormalities [C16.131]
  - Nervous System Malformations [C16.131.666]
    - Malformations of Cortical Development [C16.131.666.507]
      - Malformations of Cortical Development, Group I [C16.131.666.507.400]
        
        Focal Cortical Dysplasia [C16.131.666.507.400.125]
        
        Hippocampal Sclerosis [C16.131.666.507.400.187]
        
        Megalencephaly [C16.131.666.507.400.249]
        
        Microcephaly [C16.131.666.507.400.500]
        
        Tuberous Sclerosis [C16.131.666.507.400.750]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Heredodegenerative Disorders, Nervous System [C16.320.400]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Neoplastic Syndromes, Hereditary [C16.320.700]

Tuberous Sclerosis Preferred

Concept UI: M0022136
Scope Note: 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.
Terms: Tuberous Sclerosis Preferred Term
Term UI T042108
Date01/01/1999
LexicalTag NON
ThesaurusID; Bourneville Disease
Term UI T042106
Date06/15/1984
LexicalTag EPO
ThesaurusID; Bourneville Phakomatosis
Term UI T842619
Date04/18/2013
LexicalTag EPO
ThesaurusID GHR (2014); Bourneville Syndrome
Term UI T769422
Date04/15/2010
LexicalTag EPO
ThesaurusID; Bourneville's Disease
Term UI T042107
Date03/30/1974
LexicalTag EPO
ThesaurusID UNK (19XX); Bourneville's Syndrome
Term UI T769423
Date04/15/2010
LexicalTag EPO
ThesaurusID; Bourneville-Pringle Disease
Term UI T787202
Date03/16/2011
LexicalTag EPO
ThesaurusID NLM (2012); Bourneville-Pringle's Disease
Term UI T787201
Date03/16/2011
LexicalTag EPO
ThesaurusID NLM (2012); Cerebral Sclerosis
Term UI T842620
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Epiloia
Term UI T372090
Date11/04/1999
LexicalTag NON
ThesaurusID; Phacomatosis, Bourneville
Term UI T373373
Date11/04/1999
LexicalTag EPO
ThesaurusID NLM (2000); Phakomatosis, Bourneville
Term UI T372091
Date11/04/1999
LexicalTag EPO
ThesaurusID NLM (2000); Sclerosis Tuberosa
Term UI T842621
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Tuberose Sclerosis
Term UI T811935
Date11/15/2011
LexicalTag NON
ThesaurusID; Tuberous Sclerosis Complex
Term UI T768338
Date04/01/2010
LexicalTag NON
ThesaurusID

Adenoma Sebaceum Narrower

Tuberous Sclerosis MeSH Descriptor Data 2024