Hereditary Cardiac ATTR Amyloidosis

Preferred Label : Hereditary Cardiac ATTR Amyloidosis;

NCIt synonyms : hATTR-CM; Familial Cardiac ATTR Amyloidosis; Familial Cardiac Transthyretin Amyloidosis;

NCIt related terms : Hereditary Transthyretin Amyloid Cardiomyopathy;

NCIt definition : The accumulation of ATTR amyloid deposits in the heart due to mutations in the TTR gene.;

NCI Metathesaurus CUI : CL978560;

Details

Origin ID

C165489;

UMLS CUI

C5237217;

Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- amyloidosis, hereditary, Transthyretin-Related [MeSH Supplementary Concept]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- ATTR Amyloid Deposition [NCIt concept]
- Amyloid Deposition [NCIt concept]
- Apple Green Dichromism Present in Polarized Congo-Red Stained Sections [NCIt concept]
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- TTR Gene Mutation [NCIt concept]
disease_has_primary_anatomic_site
- Heart [NCIt concept]
disease_mapped_to_gene
- TTR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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