Mitral valve prolapse 1

Preferred Label : Mitral valve prolapse 1;

Symbol : MVP1;

CISMeF acronym : MMVP1; PMV; MVP1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Floppy mitral valve; Barlow syndrome; MVP PROLAPSED MITRAL VALVE; MMVP1; PMV; Click-murmur syndrome; Myxomatous valvular disease, familial; Mitral valve prolapse, myxomatous 1; Mitral regurgitation, familial; Myxomatous mitral valve prolapse 1; Mitral valve prolapse, familial;

Description : Several loci for mitral valve prolapse (MVP) have been been mapped: Mitral valve prolapse is a common disorder characterized by systolic displacement or billowing of the mitral leaflets into the left atrium, often accompanied by mitral regurgitation. MVP is genetically heterogeneous and is inherited as an autosomal dominant trait that exhibits both sex- and age-dependent penetrance. Grau et al. (2007) provided a detailed review of the genetics of mitral valve prolapse.;

Inheritance : Autosomal dominant;

Prefixed ID : %157700;

Details

Origin ID

157700;

UMLS CUI

C1834819;

Automatic exact mappings (from CISMeF team)
- Cisplatin/Mitomycin/Vindesine [NCIt concept]
- MVP Gene [NCIt concept]
- Major Vault Protein [NCIt concept]
- Medroxyprogesterone/Mitomycin/Vinblastine [NCIt concept]
- Myxoid transformation of mitral valve (disorder) [SNOMED CT concept]
- Polyvalvular heart disease syndrome [ORDO Disease]
- click-murmur syndrome [Radlex concept]
- mitral valve prolapse, myxomatous 1 [MeSH Supplementary Concept]
- mitral valve prolapse, myxomatous 1 [MeSH concept]
- paramyxovirus, nos [SNOMED Notion]
Currated CISMeF NLP mapping
- Barlow syndrome [Radlex concept]
- Barlow syndrome [MeSH concept]
- Barlow syndrome [MeSH Supplementary Concept]
- Barlow's syndrome [MedDRA LLT]
- Familial mitral valve prolapse [ORDO Disease]
- Familial mitral valve prolapse (disorder) [SNOMED CT concept]
- Floppy mitral valve [MedDRA LLT]
- Mitral (valve) prolapse [ICD-10 Sub-category (who)]
- Mitral Valve Prolapse [NCIt concept]
- Mitral valve prolapse [ICD-11 Category]
- Mitral valve prolapse [HPO term]
- Mitral valve prolapse [MedDRA Preferred Term]
- Mitral valve prolapse syndrome (disorder) [SNOMED CT concept]
- Prolapsed mitral valve [MedDRA LLT]
- j.b. barlow's syndrome [SNOMED Notion]
- mitral valve prolapse [DO Concept]
- mitral valve prolapse [MedlinePlus Topic]
- mitral valve prolapse [MeSH Descriptor]
- mitral valve prolapse [MeSH concept]
- mitral valve prolapse [Radlex concept]
- mitral valve prolapse [TUV Concept]
DO Cross reference
- mitral valve prolapse [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Disproportionate tall stature [HPO term]
- High palate [HPO term]
- High, narrow palate [HPO term]
- High-arched palate [HPO term]
- Mild pectus excavatum [HPO term]
- Mitral regurgitation [HPO term]
- Mitral valve prolapse [HPO term]
- Pectus excavatum [HPO term]
- Reversed usual vertebral column curves [HPO term]
- Striae distensae [HPO term]
ORDO concept(s)
- Familial mitral valve prolapse [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Floppy mitral valve [MedDRA LLT]
- Mitral (valve) prolapse [ICD-10 Sub-category (who)]
- Mitral Valve Prolapse [NCIt concept]
- Mitral leaflet prolapse [MedDRA LLT]
- Mitral valve prolapse [MedDRA Preferred Term]
- Mitral valve prolapse [HPO term]
- Mitral valve prolapse (disorder) [SNOMED CT concept]
- Mitral valve prolapse syndrome (disorder) [SNOMED CT concept]
- Prolapsed mitral valve [MedDRA LLT]
- j.b. barlow's syndrome [SNOMED Notion]
- mitral valve prolapse [MedlinePlus Topic]
- mitral valve prolapse [MeSH Descriptor]
- mitral valve prolapse [MeSH concept]
- mitral valve prolapse [TUV Concept]
- mitral valve prolapse [Radlex concept]
- mitral valve prolapse [DO Concept]
- mitral valve prolapse [Disease (Nov.)]
- mitral valve prolapse, myxomatous 1 [MeSH concept]
- mitral valve prolapse, myxomatous 1 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Mitral valve prolapse (disorder) [SNOMED CT concept]

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