Ehlers-Danlos syndrome, type VII, autosomal dominant

Preferred Label : Ehlers-Danlos syndrome, type VII, autosomal dominant;

MeSH note : PROM mutation in COL1A1;

MeSH synonym : Ehlers-Danlos syndrome, arthrochalasia type; EDS VIIA; arthrochalasis multiplex congenita; EDS VII, mutant procollagen type; EDS7A;

Details

Origin ID

C562625;

UMLS CUI

C4551623;

Automatic exact mappings (from CISMeF team)
- Ehlers-Danlos syndrome type 7A [ORDO Disease]
- Ehlers-Danlos syndrome, arthrochalasic type [ICD-11 More detail]
Currated CISMeF NLP mapping
- Arthrochalasia Ehlers-Danlos syndrome [ORDO Disease]
- Ehlers Danlos syndrome type VII [Disease (Nov.)]
- Ehlers-Danlos Syndrome, Type VII [NCIt concept]
- Ehlers-Danlos syndrome, procollagen proteinase deficient (disorder) [SNOMED CT concept]
- Ehlers-danlos syndrome, arthrochalasia type, 1 [OMIM Phenotype]
- ehlers-danlos syndrome, procollagen proteinase deficient [SNOMED Notion]
MeSH term(s) associated for indexing
- ehlers-danlos syndrome [MeSH Descriptor]
Record concept(s)
- Ehlers-Danlos syndrome, type VII, autosomal dominant [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ehlers-danlos syndrome, arthrochalasia type, 1 [OMIM Phenotype]

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