Tuberous Sclerosis

Preferred Label : Tuberous Sclerosis;

NCIt synonyms : Tuberous Sclerosis Complex; TSC; Bourneville's Disease;

NCIt related terms : Tuberous Sclerosis Syndrome;

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.;

Alternative definition : NCI-GLOSS: 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.; ACC/AHA: Hereditary disease characterized by seizures, intracerebral tumors, cardiac tumors, developmental delay, and skin and ocular lesions.;

Codes from synonyms : CDR0000304692;

Details

Origin ID

C3424;

UMLS CUI

C0041341;

Automatic exact mappings (from CISMeF team)
- Solute carrier family 12 (sodium/chloride transporter), member 3 [OMIM gene]
- TSC complex subunit 1 [ORDO Gene]
- TSC1-TSC2 complex [GO term]
- Tescalcin [OMIM gene]
- Tuberous sclerosis [ACR pathology]
- Tuberous sclerosis [ACR pathology]
- Tuberous sclerosis [ACR pathology]
- Tuberous sclerosis [ACR pathology]
- Tuberous sclerosis [MedDRA LLT]
- Tuberous sclerosis [OMIM phenotypic series]
- trans-sodium crocetinate [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Bourneville syndrome [PASCAL descriptor]
- Tuberous sclerosis [ICD-10 Sub-category]
- Tuberous sclerosis [ICD-11 Subcategory]
- Tuberous sclerosis [ICD-9 code]
- Tuberous sclerosis [ICD-10 Sub-category (who)]
- 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 [MeSH Descriptor]
- tuberous sclerosis [MeSH concept]
- tuberous sclerosis 1 [MeSH concept]
- tuberous sclerosis 1 [MeSH Supplementary Concept]
- tuberous sclerosis syndrome [Radlex concept]
- tuberous sclerosis syndrome [SNOMED Notion]
DO Cross reference
- tuberous sclerosis [DO Concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Brain sclerosis [MedDRA LLT]
- Epiloia [MedDRA LLT]
- Epiloya [MedDRA LLT]
- Tuberous sclerosis [ICD-9 code]
- Tuberous sclerosis [ICD-10 Sub-category]
- Tuberous sclerosis [ICD-11 Subcategory]
- Tuberous sclerosis [MedDRA LLT]
- Tuberous sclerosis [ICD-10 Sub-category (who)]
- Tuberous sclerosis complex [ORDO Disease]
- Tuberous sclerosis complex [MedDRA Preferred Term]
- Tuberous sclerosis syndrome (disorder) [SNOMED CT concept]
- tuberous sclerosis [DO Concept]
- tuberous sclerosis [MedDRA Preferred Term]
- tuberous sclerosis [MeSH concept]
- tuberous sclerosis [MedlinePlus Topic]
- tuberous sclerosis [MeSH Descriptor]
- tuberous sclerosis syndrome [SNOMED Notion]
associated_with_malfunction_of_gene_product
- Hamartin [NCIt concept]
- Tuberin [NCIt concept]
concept_is_in_subset
- ACC/AHA Pediatric and Congenital Cardiology EHR Terminology [NCIt concept]
- CCPS Disease Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_excludes_molecular_abnormality
- BMPR1A Gene Mutation [NCIt concept]
- PTCH1 Gene Mutation [NCIt concept]
- PTEN Gene Mutation [NCIt concept]
- SMAD4 Gene Mutation [NCIt concept]
- STK11 Gene Mutation [NCIt concept]
disease_has_associated_disease
- Hamartoma [NCIt concept]
disease_has_associated_disease
- Koenen Tumor [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_may_have_associated_disease
- Cardiac Rhabdomyoma [NCIt concept]
- Central Nervous System Hamartoma [NCIt concept]
- Colorectal Polyp [NCIt concept]
- PEComa [NCIt concept]
- Retinal Astrocytoma [NCIt concept]
- Small Intestinal Hamartoma [NCIt concept]
- Subependymal Giant Cell Astrocytoma [NCIt concept]
may_be_associated_disease_of_disease
- Angiomyolipoma [NCIt concept]
- Benign Uterine Corpus PEComa [NCIt concept]
- Childhood Kidney Angiomyolipoma [NCIt concept]
- Epithelioid Angiomyolipoma [NCIt concept]
- Kidney Angiomyolipoma [NCIt concept]
- Kidney Angiomyolipoma with Epithelial Cysts [NCIt concept]
- Kidney Classic Angiomyolipoma [NCIt concept]
- Kidney Epithelioid Angiomyolipoma [NCIt concept]
- Kidney Oncocytoma-Like Angiomyolipoma [NCIt concept]
- Liver Angiomyolipoma [NCIt concept]
- Lung Lymphangioleiomyomatosis [NCIt concept]
- Lymphangioleiomyoma [NCIt concept]
- Lymphangioleiomyomatosis [NCIt concept]
- Retinal Astrocytoma [NCIt concept]
- Skin Lymphangioleiomyomatosis [NCIt concept]
- Uterine Corpus Malignant PEComa [NCIt concept]
- Uterine Corpus PEComa [NCIt concept]
related_to_genetic_biomarker
- TSC1 Gene [NCIt concept]
- TSC2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

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