Hereditary Transthyretin Amyloid Cardiomyopathy

Preferred Label : Hereditary Transthyretin Amyloid Cardiomyopathy;

NCIt synonyms : hATTR-CM;

NCIt definition : Transthyretin amyloid cardiomyopathy caused by mutation(s) in the TTR gene, encoding transthyretin.;

NCI Metathesaurus CUI : CL978560;

Details

Origin ID

C165489;

UMLS CUI

C5237217;

Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Cardiovascular System [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
- Heart [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Respiratory System [NCIt concept]
- Thoracic Cavity [NCIt concept]
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
- Amyloid Deposition [NCIt concept]
- Apple Green Dichromism Present in Polarized Congo-Red Stained Sections [NCIt concept]
disease_has_molecular_abnormality
- TTR Gene Mutation [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]
disease_mapped_to_gene
- TTR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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