Gerstmann-Straussler-Scheinker Disease

Preferred Label : Gerstmann-Straussler-Scheinker Disease;

NCIt definition : A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia.;

Details

Origin ID

C84727;

UMLS CUI

C0017495;

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 [MeSH 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 disease [MeSH Descriptor]
- gerstmann-straussler-scheinker syndrome [SNOMED Notion]
DO Cross reference
- Gerstmann-Straussler-Scheinker syndrome [DO Concept]
Has associated anatomic sites
- Brain [NCIt concept]
- Central Nervous System [NCIt concept]
- Nervous System [NCIt 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 [MeSH 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 disease [MeSH Descriptor]
- gerstmann-straussler-scheinker syndrome [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
disease_mapped_to_gene
- PRNP Gene [NCIt concept]
related_to_genetic_biomarker
- PRNP Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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