Fatal Familial Insomnia

Preferred Label : Fatal Familial Insomnia;

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.;

Details

Origin ID

C84711;

UMLS CUI

C0206042;

Automatic exact mappings (from CISMeF team)
- Dementia due to fatal familial insomnia [ICD-11 More detail]
- Fatal familial insomnia agent (organism) [SNOMED CT concept]
- prion protein [ORDO Gene]
- prion protein (Kanno blood group) [HGNC gene]
Currated CISMeF NLP mapping
- Fatal familial insomnia [MedDRA Preferred Term]
- Fatal familial insomnia [PASCAL descriptor]
- Fatal familial insomnia [ICD-11 Subcategory]
- Fatal familial insomnia [ICD-9 code]
- Fatal familial insomnia [OMIM Phenotype]
- Fatal familial insomnia [ORDO Disease]
- Fatal familial insomnia (disorder) [SNOMED CT concept]
- fatal familial insomnia [DO Concept]
- fatal familial insomnia [SNOMED Notion]
- insomnia, fatal familial [MeSH Descriptor]
- insomnia, fatal familial [MeSH concept]
DO Cross reference
- fatal familial insomnia [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fatal familial insomnia [ORDO Disease]
- Fatal familial insomnia [MedDRA Preferred Term]
- Fatal familial insomnia [OMIM Phenotype]
- Fatal familial insomnia [PASCAL descriptor]
- Fatal familial insomnia [ICD-9 code]
- Fatal familial insomnia (disorder) [SNOMED CT concept]
- fatal familial insomnia [DO Concept]
- fatal familial insomnia [SNOMED Notion]
- insomnia, fatal familial [MeSH Descriptor]
- insomnia, fatal familial [MeSH concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- PRNP Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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