gerstmann-straussler-scheinker disease

Preferred Label : gerstmann-straussler-scheinker disease;

MeSH definition : An autosomal dominant familial prion disease with a wide spectrum of clinical presentations including ATAXIA, spastic paraparesis, extrapyramidal signs, and DEMENTIA. Clinical onset is in the third to sixth decade of life and the mean duration of illness prior to death is five years. Several kindreds with variable clinical and pathologic features have been described. Pathologic features include cerebral prion protein amyloidosis, and spongiform or neurofibrillary degeneration. (From Brain Pathol 1998 Jul;8(3):499-513; Brain Pathol 1995 Jan;5(1):61-75);

MeSH synonym : inherited spongiform encephalopathy, gerstmann-straussler; gerstmann straussler scheinker syndrome; inherited spongiform encephalopathy, gerstmann straussler; gerstmann-straussler syndrome; gerstmann straussler syndrome; Gerstmann-Straussler-Scheinker syndrome; encephalopathy, subacute spongiform, Gerstmann-Straussler type; gerstmann-straussler inherited spongiform encephalopathy; gerstmann straussler inherited spongiform encephalopathy; gerstmann straussler scheinker disease; Gerstmann-Straussler disease; disease, Gerstmann-Straussler; diseases, Gerstmann-Straussler; gerstmann straussler disease; Gerstmann-Straussler diseases;

CISMeF synonym : Gerstmann-Straussler; Gerstmann-Sträussler-Scheinker; gerstmann-straussler-scheinker's disease;

MeSH annotation : a prion dis: do not confuse with GERSTMANN SYNDROME, a type of agnosia;

Details

Origin ID

D016098;

UMLS CUI

C0017495;

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]
- transmission [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Gerstmann-Straussler-Scheinker syndrome [DO Concept]
Currated CISMeF NLP mapping
- Gerstmann Straussler Scheinker disease [Disease (Nov.)]
- Gerstmann Straussler Scheinker syndrome [MedDRA Preferred Term]
- Gerstmann-Straeussler-Scheinker syndrome [MedDRA LLT]
- Gerstmann-Straussler-Scheinker Disease [NCIt concept]
- Gerstmann-Straussler-Scheinker syndrome [ICD-11 Subcategory]
- Gerstmann-Straussler-Scheinker syndrome [ORDO Disease]
- Gerstmann-Straussler-Scheinker syndrome (disorder) [SNOMED CT concept]
- Gerstmann-Sträussler-Scheinker syndrome [PASCAL descriptor]
- Gerstmann-straussler disease [OMIM Phenotype]
- gerstmann-straussler-scheinker syndrome [SNOMED Notion]
DO Cross reference
- Gerstmann-Straussler-Scheinker syndrome [DO Concept]
Manual NTBT mappings (CISMeF)
- Genetic dementia [ORDO Disease]
- Infectious disease with dementia [ORDO Disease]
Ne pas confondre avec
- gerstmann syndrome [MeSH Descriptor]
ORDO relation(s)
- Gerstmann-Straussler-Scheinker syndrome [ORDO Disease]
Record concept(s)
- Gerstmann-Straussler-Scheinker disease [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gerstmann Straussler Scheinker disease [Disease (Nov.)]
- Gerstmann Straussler Scheinker syndrome [MedDRA Preferred Term]
- Gerstmann-Straeussler-Scheinker syndrome [MedDRA LLT]
- Gerstmann-Straussler-Scheinker Disease [NCIt concept]
- Gerstmann-Straussler-Scheinker syndrome [ORDO Disease]
- Gerstmann-Straussler-Scheinker syndrome [DO Concept]
- Gerstmann-Straussler-Scheinker syndrome (disorder) [SNOMED CT concept]
- Gerstmann-Str├â┬ñussler-Scheinker syndrome [ICD-9 code]
- Gerstmann-straussler disease [OMIM Phenotype]
- gerstmann-straussler-scheinker syndrome [SNOMED Notion]

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