Tuberous sclerosis

ICD-11 code : LD2D.2;

Preferred Label : Tuberous sclerosis;

ICD-11 definition : A disease caused by a dominant mutation of 9q34 (TSC1) or 16p13 (TSC2). This disease may present with facial angiofibromas, Koenen tumors, fibrous plaques on the forehead and scalp, renal angiomyolipomas, subependymal nodules, multiple cortical tuber or retinal hamartoma, epilepsy, or mental retardation.;

ICD-11 synonym : Bourneville disease; Bourneville phakomatosis; Epiloia;

CISMeF acronym : EPILOIA;

ICD-11 inclusion : Pringle's disease; Bourneville disease;

Details

Origin ID

1903085809;

UMLS CUI

C0041341;

Automatic exact mappings (from CISMeF team)
- Tuberous sclerosis [MedDRA LLT]
- Tuberous sclerosis [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Bourneville syndrome [PASCAL descriptor]
- Epiloia [MedDRA LLT]
- Epiloya [MedDRA LLT]
- Tuberous Sclerosis [NCIt concept]
- Tuberous sclerosis [ICD-9 code]
- Tuberous sclerosis [ICD-10 Sub-category]
- Tuberous sclerosis complex [ORDO Disease]
- Tuberous sclerosis syndrome (disorder) [SNOMED CT concept]
- tuberous sclerosis [MedlinePlus Topic]
- tuberous sclerosis [DO Concept]
- tuberous sclerosis [MedDRA Preferred Term]
- tuberous sclerosis syndrome [SNOMED Notion]
ICD-10 Mapping
- Tuberous sclerosis [ICD-10 Sub-category]
See also inter- (CISMeF)
- tuberous sclerosis [MeSH concept]
- tuberous sclerosis [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 [MedDRA LLT]
- 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 [MedlinePlus Topic]
- tuberous sclerosis [MeSH Descriptor]
- tuberous sclerosis [MeSH concept]
- tuberous sclerosis syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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