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Fatal Familial Insomnia (CUI C0206042) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0206042

NCI Thesaurus Code: C84711  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A very rare autosomal dominant inherited sleep disorder caused by a mutation in the gene responsible for the prion protein. It affects individuals usually in their fourth decade. Its initial manifestation is difficulty in falling asleep. It is followed by complete inability to sleep. Patients develop deterioration of their mental and motor functions and die soon after the first symptoms appear, because of the total absence of sleep.

GARD Definition: Fatal familial insomnia (FFI) is an inherited prion disease that affects the brain and other parts of the nervous system.  Prion diseases, also known as transmissible spongiform encephalopathies (TSE), are a group of rare neurodegenerative conditions that occur when abnormal proteins clump together and accumulate in the brain, leading to tissue damage. The first symptoms of FFI usually begin in mid-life and may include insomnia that worsens over time and vivid dreams when sleep is achieved. These symptoms may be followed by high blood pressure; episodes of hyperventilation; excessive tearing; and/or sexual and urinary tract dysfunction. As the disease progresses, most affected people develop ataxia. FFI usually leads to death within a few months to a few years. Genetic prion diseases are inherited in an autosomal dominant manner and may be caused by mutations in the PRNP gene. Treatment aims at alleviating symptoms when possible. - this information is from GARD/ORDR/NCATS.

MSH 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).

Synonyms & Abbreviations: (see Synonym Details)
Familial Fatal Insomnias
Familial fatal insomnia
Familial Fatal, Insomnia
Familial Fatals, Insomnia
Fatal familial insomnia (disorder)
Fatal Familial Insomnias
Fatal familial insomnia
Fatal Insomnia, Familial
Fatal Insomnias, Familial
Fatal, Insomnia Familial
Fatals, Insomnia Familial
FFI - Familial fatal insomnia
FFI
Insomnia Familial Fatals
Insomnia familial fatal
Insomnia, Familial Fatal
Insomnia, Fatal Familial [Disease/Finding]
Insomnia, Fatal Familial
Insomnias, Familial Fatal
Insomnias, Fatal Familial

External Source Codes: 
NCI Thesaurus Code C84711 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AQL BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH TM UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CTV3ID X003N SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000073002 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 18513 GARD
DISEASE_IDENTIFIER_ID 18514 GARD
DX 20030101 MSH
EFFECTIVE_TIME 20170131 SNOMEDCT_US
GENELOCUS ,2,0,p,t,e,r,-,p,1,2, OMIM
GENESYMBOL CJD OMIM
GENESYMBOL KURU OMIM
GENESYMBOL PRIP OMIM
GENESYMBOL PRNP OMIM
HAS_GARD_PAGE true GARD
HN 2003; use PRION DISEASES 1993-2002 MSH
ICE FFI ICD9CM
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
MDA 20020703 MSH
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). NDFRT
MESH_DUI D034062 NDFRT
MESH_NAME Insomnia, Fatal Familial NDFRT
MESH_UI M0025976 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20150622 MSH
MN C10.228.228.800.392 MSH
MN C10.574.843.512 MSH
MN C10.886.425.800.800.400 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000011042 NDFRT
ORDER_NO 00611 ICD10CM
PM 2003; see PRION DISEASES 1993-2002 MSH
PRIMARY_PATH 10072077$10003842$10008804$10010331$Fatal familial insomnia$Autosomal chromosomal abnormalities$Chromosomal abnormalities and abnormal gene carriers$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 20.0 MDR
PT_IN_VERSION 20.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/6429/fatal-familial-insomnia/resources/1 GARD
RXAUI 3159925 RXNORM
RXAUI 3181575 RXNORM
RXAUI 3181576 RXNORM
RXAUI 3605810 RXNORM
RXAUI 3605946 RXNORM
RXCUI 1023612 RXNORM
SMQ_TERM_ADDVERSION 15.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LMVERSION 15.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 83157008 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS A81.8 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~A81.8 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS A81.83 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~A81.83 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~X003N SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T051046 MSH
TERMUI T469715 MSH
TERMUI T769505 MSH
TERMUI T769506 MSH
TH NLM (1993) MSH
TH NLM (2003) MSH
TH NLM (2011) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0206042

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