Ehlers-Danlos syndrome, cardiac valvular form

Preferred Label : Ehlers-Danlos syndrome, cardiac valvular form;

Définition CISMeF : Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency.;

MeSH synonym : cardiac valvular form of Ehlers-Danlos syndrome; cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome; Ehlers-Danlos syndrome, arthrochalasis type; Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form;

Details

Origin ID

C536200;

UMLS CUI

C1857034;

Automatic exact mappings (from CISMeF team)
- Arthrochalasia Ehlers-Danlos syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Cardiac-valvular Ehlers-Danlos syndrome [ORDO Disease]
- Ehlers-Danlos syndrome cardiac valvular type [DO Concept]
- Ehlers-Danlos syndrome cardiac valvular type (disorder) [SNOMED CT concept]
- Ehlers-Danlos syndrome, cardiac valvular type [ICD-11 More detail]
- Ehlers-danlos syndrome, cardiac valvular type [OMIM Phenotype]
MeSH term(s) associated for indexing
- ehlers-danlos syndrome [MeSH Descriptor]
Record concept(s)
- Ehlers-Danlos syndrome, cardiac valvular form [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cardiac-valvular Ehlers-Danlos syndrome [ORDO Disease]
- Ehlers-danlos syndrome, cardiac valvular type [OMIM Phenotype]

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