Familial Hypertrophic Cardiomyopathy

Preferred Label : Familial Hypertrophic Cardiomyopathy;

NCIt synonyms : Hypertrophic Familial Cardiomyopathy;

NCIt definition : Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions.;

Details

Origin ID

C84773;

UMLS CUI

C0949658;

Currated CISMeF NLP mapping
- Cardiomyopathy, familial hypertrophic [OMIM phenotypic series]
- Familial-genetic hypertrophic cardiomyopathy [ICD-11 Sub-sub category]
- Primary familial hypertrophic cardiomyopathy (disorder) [SNOMED CT concept]
- Rare familial disorder with hypertrophic cardiomyopathy [ORDO Disease]
- cardiomyopathy, hypertrophic, familial [MeSH Descriptor]
- cardiomyopathy, hypertrophic, familial [MeSH concept]
- familial hypertrophic cardiomyopathy [Disease (Nov.)]
- familial hypertrophic cardiomyopathy [DO Concept]
- hypertrophic cardiomyopathy [DO Concept]
- primary familial hypertrophic cardiomyopathy [SNOMED Notion]
DO Cross reference
- hypertrophic cardiomyopathy [DO Concept]
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)
- Primary familial hypertrophic cardiomyopathy (disorder) [SNOMED CT concept]
- Rare familial disorder with hypertrophic cardiomyopathy [ORDO Disease]
- cardiomyopathy, hypertrophic, familial [MeSH Descriptor]
- cardiomyopathy, hypertrophic, familial [MeSH concept]
- familial hypertrophic cardiomyopathy [Disease (Nov.)]
- primary familial hypertrophic cardiomyopathy [SNOMED Notion]
Validated automatic mappings to NTBT
- Hypertrophic cardiomyopathy [ICD-11 Subcategory]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]

Keyword's position in hierarchy(ies) :

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