MASS syndrome - CISMeF

Preferred Label : MASS syndrome;

MeSH note : Autosomal dominant disorder of CONNECTIVE TISSUE characterized by myopia, mitral valve prolapse, borderline and non-progressive aortic enlargement, and nonspecific skin and skeletal features (MASS). It can be associated with mutations in the gene encoding FIBRILLIN;

MeSH synonym : mass phenotype; overlap connective tissue disease;

Détails

Origin ID

C536030;

UMLS CUI

C1858556;

Currated CISMeF NLP mapping
- Connective tissue disease overlap syndrome (disorder) [SNOMED CT concept]
- MASS syndrome [ORDO Disease]
- Mass syndrome [OMIM Phenotype]
- Overlapping connective tissue disease [ORDO Disease]
MeSH term(s) associated for indexing
- mitral valve prolapse [MeSH Descriptor]
- myopia [MeSH Descriptor]
- skin diseases [MeSH Descriptor]
Record concept(s)
- MASS syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- MASS syndrome [ORDO Disease]
- Mass syndrome [OMIM Phenotype]
- Overlapping connective tissue disease [ORDO Disease]

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