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inherited Creutzfeldt-Jakob disease

Go to external page http://purl.obolibrary.org/obo/MONDO_0007403

Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia. [ ]

Term info

Label

inherited Creutzfeldt-Jakob disease

Synonyms
  • Creutzfeldt-Jakob disease, variant, resistance to
  • hereditary Creutzfeldt Jacob disease
  • inherited CJD
database cross reference
Subsets

ordo_disease

exactMatch

http://linkedlifedata.com/resource/umls/id/CN202816, https://omim.org/entry/123400, http://identifiers.org/snomedct/715807002, http://purl.obolibrary.org/obo/Orphanet_282166

has related synonym

Creutzfeldt-Jakob disease, familial, Creutzfeldt-Jakob disease, Heidenhain variant, Creutzfeldt-Jakob disease, Creutzfeldt-Jakob disease, sporadic, Creutzfeldt-Jakob disease, variant, CJD

id

MONDO:0007403

narrowMatch

https://icd.codes/icd10cm/A81.0

see also

https://github.com/monarch-initiative/mondo/issues/4521