Cardiomyopathy, dilated, 1b

Preferred Label : Cardiomyopathy, dilated, 1b;

Symbol : CMD1B;

CISMeF acronym : CMD1B; CMPD1; FDC;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : CMPD1; Cardiomyopathy, familial dilated, 1; Cardiomyopathy, familial dilated; FDC;

Description : For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200).;

Inheritance : Autosomal dominant;

Prefixed ID : %600884;

Détails

Origin ID

600884;

UMLS CUI

C5700078;

Automatic exact mappings (from CISMeF team)
- Familial dilated cardiomyopathy [MeSH concept]
- Familial dilated cardiomyopathy [ORDO Disease]
- Familial isolated dilated cardiomyopathy [ORDO Disease]
- Familial-genetic dilated cardiomyopathy [ICD-11 Sub-sub category]
- LAG3 wt Allele [NCIt concept]
- Primary familial dilated cardiomyopathy (disorder) [SNOMED CT concept]
- SOX9 wt Allele [NCIt concept]
- cardiomyopathy, dilated 1B (autosomal dominant) [HGNC gene]
- cats [MeSH Descriptor]
- dilated cardiomyopathy [DO Concept]
- familial dilated cardiomyopathy [MeSH Supplementary Concept]
- feline species [SNOMED Notion]
Broader ORDO disease(s)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
Currated CISMeF NLP mapping
- Congenital muscular dystrophy type 1B [ORDO Disease]
- congenital muscular dystrophy 1B [DO Concept]
- dilated cardiomyopathy 1B [DO Concept]
DO Cross reference
- dilated cardiomyopathy 1B [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Congestive heart failure [HPO term]
- Dilated cardiomyopathy [HPO term]
- Impaired myocardial contractility [HPO term]
- Vascular dilatation [HPO term]
- Ventricular arrhythmia [HPO term]
ORDO concept(s)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial dilated cardiomyopathy [ORDO Disease]
- Familial dilated cardiomyopathy [MeSH concept]
- Familial isolated dilated cardiomyopathy [ORDO Disease]
- Primary familial dilated cardiomyopathy (disorder) [SNOMED CT concept]
- dilated cardiomyopathy 1B [DO Concept]
- familial dilated cardiomyopathy [MeSH Supplementary Concept]
- primary familial dilated cardiomyopathy [SNOMED Notion]

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

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