Transthyretin Amyloid Cardiomyopathy

Preferred Label : Transthyretin Amyloid Cardiomyopathy;

NCIt synonyms : ATTR-CM;

NCIt definition : Cardiomyopathy resulting from the deposition of misfolded transthyretin. The condition can be classified by the presence (hereditary transthyretin amyloid) or absence (wild-type transthyretin amyloid) of mutation(s) in the TTR gene, encoding transthyretin.;

NCI Metathesaurus CUI : CL978577;

Details

Origin ID

C165484;

UMLS CUI

C5237215;

Automatic exact mappings (from CISMeF team)
- Transthyretin amyloid cardiomyopathy [MedDRA LLT]
Currated CISMeF NLP mapping
- Transthyretin cardiac amyloidosis [HPO term]
- Transthyretin cardiac amyloidosis [MedDRA LLT]
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]
UMLS correspondences (same concept)
- Transthyretin amyloid cardiomyopathy [MedDRA LLT]
disease_has_finding
- Amyloid Deposition [NCIt concept]
- Apple Green Dichromism Present in Polarized Congo-Red Stained Sections [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]

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