Myxoma, intracardiac

Preferred Label : Myxoma, intracardiac;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Atrial myxoma, familial;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the protein kinase, cAMP-dependent, regulatory, type I, alpha gene (PRKAR1A, 188830.0004);

Prefixed ID : #255960;

Details

Origin ID

255960;

UMLS CUI

C2931787;

Automatic exact mappings (from CISMeF team)
- Atrial Myxoma [NCIt concept]
- Atrial myxoma (disorder) [SNOMED CT concept]
- Familial atrial myxoma [ICD-11 More detail]
- Familial atrial myxoma (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Atrial myxoma, familial [MeSH concept]
- Familial atrial myxoma [ORDO Disease]
- atrial myxoma, familial [MeSH Supplementary Concept]
Genes related to phenotype
- Protein kinase, camp-dependent, regulatory, type I, alpha [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bacterial endocarditis [HPO term]
- Cardiac myxoma [HPO term]
- Pulmonic valve myxoma [HPO term]
ORDO concept(s)
- Familial atrial myxoma [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- intracardiac myxoma [MeSH concept]
Validated automatic mappings to NTBT
- intracardiac myxoma [MeSH concept]

Keyword's position in hierarchy(ies) :

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