EDS VIIB - CISMeF

Preferred Label : EDS VIIB;

MeSH note : mutation in COL1A2;

MeSH synonym : EDS7B;

Origin ID

C565061;

UMLS CUI

C1851801;

Automatic exact mappings (from CISMeF team)
- Ehlers-Danlos syndrome type 7B [ICD-11 More detail]
Currated CISMeF NLP mapping
- Ehlers-Danlos syndrome arthrochalasia type 2 [DO Concept]
- Ehlers-Danlos syndrome type 7B [ORDO Disease]
- Ehlers-danlos syndrome, arthrochalasia type, 2 [OMIM Phenotype]
MeSH term(s) associated for indexing
- ehlers-danlos syndrome [MeSH Descriptor]
Record concept(s)
- EDS VIIB [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ehlers-Danlos syndrome type 7B [ORDO Disease]
- Ehlers-danlos syndrome, arthrochalasia type, 2 [OMIM Phenotype]