Preferred Label : insomnia, fatal familial;
MeSH definition : An autosomal dominant disorder characterized by degeneration of the THALAMUS and progressive
insomnia. It is caused by a mutation in the prion protein (PRIONS).;
MeSH synonym : insomnias, fatal familial; fatal familial insomnia; fatal familial insomnias; insomnia familial fatal; familial fatal, insomnia; familial fatals, insomnia; fatal, insomnia familial; fatals, insomnia familial; insomnia familial fatals; familial fatal insomnia; familial fatal insomnias; fatal insomnia, familial; fatal insomnias, familial; insomnia, familial fatal; insomnias, familial fatal;
Wikipedia link : https://en.wikipedia.org/wiki/Fatal familial insomnia;
Origin ID : D034062;
UMLS CUI : C0206042;
Allowable qualifiers
Currated CISMeF NLP mapping
DO Cross reference
Manual NTBT mappings (CISMeF)
ORDO relation(s)
Record concept(s)
Semantic type(s)
UMLS correspondences (same concept)
An autosomal dominant disorder characterized by degeneration of the THALAMUS and progressive
insomnia. It is caused by a mutation in the prion protein (PRIONS).
http://invs.santepubliquefrance.fr/publications/2005/mcj_2002_310105/index.html
https://www.santepubliquefrance.fr/recherche/#search=Maladies+de+Creutzfeldt-Jakob+et+les+maladies+apparentées+en+France+en+2002+(les)
2005
France
French
france
creutzfeldt-jakob syndrome
environmental monitoring
insomnia, fatal familial
gerstmann-straussler-scheinker disease
technical report
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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=466
2004
true
France
French
scientific and technical information
insomnia, fatal familial
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