Familial Hypertrophic Cardiomyopathy Type 3

Preferred Label : Familial Hypertrophic Cardiomyopathy Type 3;

NCIt synonyms : CMH3;

NCIt definition : An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the TPM1 gene, encoding tropomyosin alpha-1 chain.;

NCI Metathesaurus CUI : CL1770694;

Détails

Origin ID

C182076;

UMLS CUI

C1861863;

Currated CISMeF NLP mapping
- Cardiomyopathy, familial hypertrophic, 3 [OMIM Phenotype]
- cardiomyopathy, familial hypertrophic, 3 [MeSH Supplementary Concept]
- cardiomyopathy, familial hypertrophic, 3 [MeSH concept]
- hypertrophic cardiomyopathy 3 [DO Concept]
Has associated anatomic sites
- Cardiovascular System [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
- Heart [NCIt concept]
- Muscle [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Respiratory System [NCIt concept]
- Soft Tissue [NCIt concept]
- Thoracic Cavity [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cardiomyopathy, familial hypertrophic, 3 [OMIM Phenotype]
- cardiomyopathy, familial hypertrophic, 3 [MeSH Supplementary Concept]
- cardiomyopathy, familial hypertrophic, 3 [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Cardiovascular System [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
- Heart [NCIt concept]
- Muscle [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Myocardium [NCIt concept]
- Soft Tissue [NCIt concept]
- Thoracic Cavity [NCIt concept]
disease_mapped_to_gene
- TPM1 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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