Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Preferred Label : Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1;

NCIt synonyms : FTDALS1;

NCIt definition : An autosomal dominant condition caused by heterozygous hexanucleotide repeat expansion in a noncoding region of the C9ORF72 gene , encoding guanine nucleotide exchange C9orf72. It is characterized by amyotrophic lateral sclerosis with frontotemporal dementia.;

Details

Origin ID

C168756;

UMLS CUI

C5779877;

Currated CISMeF NLP mapping
- Amyotrophic lateral sclerosis with frontotemporal dementia [ICD-11 More detail]
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 [OMIM Phenotype]
- Frontotemporal dementia with motor neuron disease [ORDO Disease]
- frontotemporal dementia and/or amyotrophic lateral sclerosis-1 [DO Concept]
- frontotemporal dementia with motor neuron disease [MeSH Supplementary Concept]
- frontotemporal dementia with motor neuron disease [MeSH concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 [OMIM Phenotype]
- Frontotemporal dementia with motor neuron disease [ORDO Disease]
- frontotemporal dementia with motor neuron disease [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- C9orf72 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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