Dilated Cardiomyopathy-1P

Preferred Label : Dilated Cardiomyopathy-1P;

NCIt synonyms : CMD1P;

NCIt definition : An autosomal dominant subtype of dilated cardiomyopathy caused by mutation(s) in the PLN gene, encoding cardiac phospholamban.;

Détails

Origin ID

C173625;

UMLS CUI

C1835928;

Currated CISMeF NLP mapping
- Cardiomyopathy, dilated, 1p [OMIM Phenotype]
- cardiomyopathy, dilated, 1p [MeSH Supplementary Concept]
- cardiomyopathy, dilated, 1p [MeSH concept]
- dilated cardiomyopathy 1P [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)
- phospholamban [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cardiomyopathy, dilated, 1p [OMIM Phenotype]
- cardiomyopathy, dilated, 1p [MeSH Supplementary Concept]
- cardiomyopathy, dilated, 1p [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [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
- PLN Gene [NCIt concept]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients