tuberous sclerosis

Preferred Label : tuberous sclerosis;

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.;

MeSH synonym : bourneville phacomatosis; sclerosis, tuberous; bourneville's disease; phacomatosis, bourneville; epiloia; phakomatosis, bourneville; bourneville phakomatosis; bourneville disease; bourneville syndrome; syndrome, bourneville; bourneville's syndrome; syndrome, bourneville's; tuberous sclerosis complex; Bourneville-Pringle's disease; bourneville pringle's disease; Bourneville-Pringles disease; disease, Bourneville-Pringle's; Bourneville-Pringle disease; bourneville pringle disease; disease, Bourneville-Pringle; tuberose sclerosis; cerebral sclerosis; cerebral scleroses; sclerosis, cerebral; sclerosis tuberosa; sclerosis, tuberose;

CISMeF synonym : Bourneville; adenoma sebaceums; bournevilles syndrome; epiloias; sebaceum, adenoma; sebaceums, adenoma; tuberous sclerosis complices;

MeSH hyponym : adenoma sebaceum;

Wikipedia link : https://en.wikipedia.org/wiki/Tuberous sclerosis;

Details

Origin ID

D014402;

UMLS CUI

C0041341;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Adenoma sebaceum [HPO term]
- Adenoma sebaceum [HRDO Sign]
- Fibrous skin tumor of tuberous sclerosis (disorder) [SNOMED CT concept]
- TSC1-TSC2 complex [GO term]
- Tuberous Sclerosis 2 [NCIt concept]
- Tuberous sclerosis [MedDRA LLT]
- Tuberous sclerosis [OMIM phenotypic series]
- Tuberous sclerosis [ACR pathology]
- Tuberous sclerosis [ACR pathology]
- Tuberous sclerosis [ACR pathology]
- Tuberous sclerosis [ACR pathology]
- fibrous skin tumor of tuberous sclerosis [SNOMED Notion]
Currated CISMeF NLP mapping
- Bourneville syndrome [PASCAL descriptor]
- Epiloia [MedDRA LLT]
- Epiloya [MedDRA LLT]
- Tuberous Sclerosis [NCIt concept]
- Tuberous Sclerosis 1 [NCIt concept]
- Tuberous sclerosis [ICD-10 Sub-category]
- Tuberous sclerosis [ICD-10 Sub-category (who)]
- Tuberous sclerosis [ICD-9 code]
- Tuberous sclerosis 1 [OMIM Phenotype]
- Tuberous sclerosis complex [MedDRA Preferred Term]
- Tuberous sclerosis complex [ORDO Disease]
- Tuberous sclerosis syndrome (disorder) [SNOMED CT concept]
- tuberous sclerosis [Disease (Nov.)]
- tuberous sclerosis [DO Concept]
- tuberous sclerosis [MedDRA Preferred Term]
- tuberous sclerosis [MedlinePlus Topic]
- tuberous sclerosis syndrome [SNOMED Notion]
- tuberous sclerosis syndrome [Radlex concept]
DO Cross reference
- tuberous sclerosis [DO Concept]
HPO term
- Adenoma sebaceum [HPO term]
Indexing information
- Tuberous Sclerosis Complex 2 Protein [MeSH Descriptor]
Manual NTBT mappings (CISMeF)
- Eyebrow/eyelashes pigmentation anomaly [ORDO Disease]
- Genetic cystic renal disease [ORDO Disease]
- Genetic mixed dermis disorder [ORDO Disease]
- Genetic renal tumor [ORDO Disease]
- Malformation syndrome with hamartosis [ORDO Disease]
- Mixed dermis disorder [ORDO Disease]
- Neurocutaneous syndrome with epilepsy [ORDO Disease]
- Phakomatosis with eye involvement [ORDO Disease]
- Polymalformative genetic syndrome with increased risk of developing cancer [ORDO Disease]
- Rare disease with autism [ORDO Disease]
- Rare genetic syndromic intellectual disability [ORDO Disease]
- Rare genetic tumor [ORDO Disease]
- Rare renal tumor [ORDO Disease]
- Rare skin tumor or hamartoma [ORDO Disease]
- Rare syndromic intellectual disability [ORDO Disease]
- Syndromic lymphedema [ORDO Disease]
MedlinePlus topic(s)
- tuberous sclerosis [MedlinePlus Topic]
ORDO relation(s)
- Tuberous sclerosis complex [ORDO Disease]
Record concept(s)
- adenoma sebaceum [MeSH concept]
- tuberous sclerosis [MeSH concept]
Related MeSH Supplementary Concept(s)
- Tsc2 angiomyolipomas, renal, modifier of [MeSH Supplementary Concept]
- polycystic kidneys, severe infantile with tuberous sclerosis [MeSH Supplementary Concept]
- tuberous sclerosis 1 [MeSH Supplementary Concept]
- tuberous sclerosis 2 [MeSH Supplementary Concept]
See also
- fibroma [MeSH Descriptor]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Brain sclerosis [MedDRA LLT]
- Epiloia [MedDRA LLT]
- Epiloya [MedDRA LLT]
- Tuberous Sclerosis [NCIt concept]
- Tuberous sclerosis [ICD-9 code]
- Tuberous sclerosis [ICD-10 Sub-category]
- Tuberous sclerosis [ICD-10 Sub-category (who)]
- Tuberous sclerosis [ICD-11 Subcategory]
- Tuberous sclerosis [MedDRA LLT]
- Tuberous sclerosis complex [ORDO Disease]
- Tuberous sclerosis complex [MedDRA Preferred Term]
- Tuberous sclerosis syndrome (disorder) [SNOMED CT concept]
- tuberous sclerosis [MedDRA Preferred Term]
- tuberous sclerosis [DO Concept]
- tuberous sclerosis [MedlinePlus Topic]
- tuberous sclerosis syndrome [SNOMED Notion]

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