|
|
|
|
|
| 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:
| 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
