Creutzfeldt-Jakob Disease

Preferred Label : Creutzfeldt-Jakob Disease;

NCIt synonyms : Creutzfeldt-Jacob Disease;

NCIt related terms : CJD; Classic Creutzfeldt-Jakob Disease;

NCIt definition : A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease.;

Alternative definition : NICHD: A prion disease of humans that is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Three recognized forms are sporadic, familial, and iatrogenic. The iatrogenic form occurs through direct contact with human tissue, a product derived from human tissue, or contaminated medical equipment.;

Details

Origin ID

C26802;

UMLS CUI

C0022336;

Currated CISMeF NLP mapping
- CREUTZFELDT-JAKOB DISEASE [WHO-ART Preferred Term]
- Creutzfeldt Jakob disease [Disease (Nov.)]
- Creutzfeldt-Jakob disease [PASCAL descriptor]
- Creutzfeldt-Jakob disease [ICD-10 Sub-category]
- Creutzfeldt-Jakob disease [MedDRA Preferred Term]
- Creutzfeldt-Jakob disease [DO Concept]
- Creutzfeldt-Jakob disease [ICD-10 Sub-category (who)]
- Creutzfeldt-Jakob syndrome [MeSH concept]
- Creutzfeldt-jakob disease [OMIM Phenotype]
- Genetic Creutzfeldt-Jakob disease [ICD-11 Subcategory]
- Jakob-Creutzfeldt disease [MedDRA LLT]
- Jakob-Creutzfeldt disease (disorder) [SNOMED CT concept]
- Spastic pseudosclerosis [OMIM Phenotype]
- Sporadic Creutzfeldt-Jakob disease [ORDO Disease]
- creutzfeldt-jakob disease [MedlinePlus Topic]
- creutzfeldt-jakob syndrome [MeSH Descriptor]
- jakob-creutzfeldt disease [SNOMED Notion]
DO Cross reference
- Creutzfeldt-Jakob disease [DO Concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CJ disease [MedDRA LLT]
- CJD [MedDRA LLT]
- CREUTZFELDT-JAKOB DISEASE [WHO-ART Preferred Term]
- Creutzfeld-Jacob disease [MedDRA LLT]
- Creutzfeld-Jakob disease [MedDRA LLT]
- Creutzfeldt-Jakob disease [MedDRA Preferred Term]
- Creutzfeldt-Jakob disease [ICD-10 Sub-category]
- Creutzfeldt-Jakob disease [DO Concept]
- Creutzfeldt-Jakob disease [ICD-10 Sub-category (who)]
- Creutzfeldt-Jakob syndrome [MeSH concept]
- Creutzfeldt-jakob disease [OMIM Phenotype]
- Genetic Creutzfeldt-Jakob disease [ICD-11 Subcategory]
- Jacob-Creutzfeld disease [MedDRA LLT]
- Jakob-Creutzfeldt disease [ICD-9 code]
- Jakob-Creutzfeldt disease [MedDRA LLT]
- Jakob-Creutzfeldt disease (disorder) [SNOMED CT concept]
- Sporadic Creutzfeldt-Jakob disease [ORDO Disease]
- creutzfeldt-jakob disease [MedlinePlus Topic]
- creutzfeldt-jakob syndrome [MeSH Descriptor]
- jakob-creutzfeldt disease [SNOMED Notion]
- transmissible virus dementia [SNOMED Notion]
associated_with_malfunction_of_gene_product
- Major Prion Protein [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Infectious Disease Terminology [NCIt concept]
disease_has_associated_gene
- PRNP Gene [NCIt concept]
- PRNP wt Allele [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]
disease_mapped_to_gene
- PRNP Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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