Cardiomyopathy, dilated, 1l

Preferred Label : Cardiomyopathy, dilated, 1l;

Symbol : CMD1L;

CISMeF acronym : CMD1L;

Type : Phenotype, molecular basis known;

Description : Dilated cardiomyopathy, a disorder characterized by cardiac dilation and reduced systolic function, represents an outcome of a heterogeneous group of inherited and acquired disorders. For background and phenotypic information on dilated cardiomyopathy, see CMD1A (115200).;

Prefixed ID : #606685;

Détails

Origin ID

606685;

UMLS CUI

C1847667;

Automatic exact mappings (from CISMeF team)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
- sarcoglycan delta [ORDO Gene]
- sarcoglycan delta [HGNC gene]
Broader ORDO disease(s)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
Currated CISMeF NLP mapping
- cardiomyopathy, dilated, 1l [MeSH concept]
- cardiomyopathy, dilated, 1l [MeSH Supplementary Concept]
- dilated cardiomyopathy 1L [DO Concept]
- dilated cardiomyopathy 1L [Disease (Nov.)]
DO Cross reference
- dilated cardiomyopathy 1L [DO Concept]
Genes related to phenotype
- Sarcoglycan, delta [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Congestive heart failure [HPO term]
- Dilated cardiomyopathy [HPO term]
- Reduced systolic function [HPO term]
ORDO concept(s)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cardiomyopathy, dilated, 1l [MeSH Supplementary Concept]
- cardiomyopathy, dilated, 1l [MeSH concept]
- dilated cardiomyopathy 1L [DO Concept]
- dilated cardiomyopathy 1L [Disease (Nov.)]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients