Alzheimer disease 3

Preferred Label : Alzheimer disease 3;

Symbol : AD3;

CISMeF acronym : AD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Alzheimer disease 3, early-onset; Alzheimer disease, familial, 3;

Included titles and symbols : Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques; Alzheimer disease, familial, 3, with spastic paraparesis and apraxia;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the presenilin-1 gene (PSEN1, 104311.0001);

Prefixed ID : #607822;

Details

Origin ID

607822;

UMLS CUI

C1843013;

Automatic exact mappings (from CISMeF team)
- AD Regimen [NCIt concept]
- AD Term Type [NCIt concept]
- Added [NCIt concept]
- Address Data Type [NCIt concept]
- Admitting diagnosis (contextual qualifier) (qualifier value) [SNOMED CT concept]
- Alzheimer's Disease 3 [NCIt concept]
- Analysis Dataset Domain [NCIt concept]
- Auditory synaptopathy or neuropathy [ICD-11 Category]
- Final diagnosis (discharge) (contextual qualifier) (qualifier value) [SNOMED CT concept]
- Right atrium [FMA entity]
- Up to [NCIt concept]
- administration and dosage [MeSH Qualifier]
- alzheimer disease, familial, 3, with spastic paraparesis and apraxia [MeSH concept]
- alzheimer disease, familial, 3, with spastic paraparesis and apraxia [MeSH Supplementary Concept]
- alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques [MeSH concept]
- alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques [MeSH Supplementary Concept]
- alzheimer's disease [MedlinePlus Topic]
- anterodorsal nucleus of thalamus [UBERON concept]
- atopic dermatitis, nos [SNOMED Notion]
- dermatitis, atopic [MeSH Descriptor]
Currated CISMeF NLP mapping
- Alzheimer disease, familial, type 3 [MeSH concept]
- Alzheimer's disease 3 [DO Concept]
- alzheimer disease, familial, type 3 [MeSH Supplementary Concept]
DO Cross reference
- Alzheimer's disease 3 [DO Concept]
False automatic mappings
- Andorra [NCIt concept]
Genes related to phenotype
- Apolipoprotein e [OMIM gene]
- Presenilin 1 [OMIM gene]
HPO term(s)
- Abnormality of extrapyramidal motor function [HPO term]
- Adult onset [HPO term]
- Agnosia [HPO term]
- Alzheimer disease [HPO term]
- Apraxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Cerebral cortical atrophy [HPO term]
- Dementia [HPO term]
- Dementia, progressive [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Gait disturbance [HPO term]
- Lower limb hyperreflexia [HPO term]
- Memory impairment [HPO term]
- Memory loss [HPO term]
- Myoclonus [HPO term]
- Neurofibrillary tangles [HPO term]
- Optic ataxia [HPO term]
- Personality changes [HPO term]
- Rapidly progressive [HPO term]
- Seizure [HPO term]
- Spastic tetraparesis [HPO term]
ORDO concept(s)
- Early-onset autosomal dominant Alzheimer disease [ORDO Disease]
See also inter- (CISMeF)
- PSEN1 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alzheimer disease, familial, type 3 [MeSH concept]
- Alzheimer's Disease 3 [NCIt concept]
- Alzheimer's disease 3 [DO Concept]
- alzheimer disease, familial, type 3 [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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