Familial Hypertrophic Cardiomyopathy Type 7

Preferred Label : Familial Hypertrophic Cardiomyopathy Type 7;

NCIt synonyms : CMH7;

NCIt definition : An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the TNNI3 gene, encoding troponin I, cardiac muscle.;

NCI Metathesaurus CUI : CL1773155;

Détails

Origin ID

C184989;

UMLS CUI

C1860752;

Currated CISMeF NLP mapping
- Cardiomyopathy, familial hypertrophic, 7 [OMIM Phenotype]
- hypertrophic cardiomyopathy 7 [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]
See also inter- (CISMeF)
- troponin I3, cardiac type [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cardiomyopathy, familial hypertrophic, 7 [OMIM Phenotype]
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
- TNNI3 Gene [NCIt concept]

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

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