Ehlers-Danlos syndrome, type VII, autosomal recessive

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

MeSH note : PROM;

MeSH synonym : EDS VIIC; Ehlers-Danlos syndrome, dermatosparaxis type; dermatosparaxis; EDS7C;

Détails

Origin ID

C567527;

UMLS CUI

C2700425;

Automatic exact mappings (from CISMeF team)
- Ehlers-Danlos syndrome, procollagen proteinase deficient (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Dermatosparaxis Ehlers-Danlos syndrome [ORDO Disease]
- Dermatosparaxis Ehlers-Danlos syndrome (disorder) [SNOMED CT concept]
- Ehlers-Danlos syndrome dermatosparaxis type [DO Concept]
- Ehlers-Danlos syndrome, dermatosparaxis type [ICD-11 More detail]
- Ehlers-danlos syndrome, dermatosparaxis type [OMIM Phenotype]
MeSH term(s) associated for indexing
- ehlers-danlos syndrome [MeSH Descriptor]
Record concept(s)
- Ehlers-Danlos syndrome, type VII, autosomal recessive [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dermatosparaxis Ehlers-Danlos syndrome [ORDO Disease]
- Dermatosparaxis Ehlers-Danlos syndrome (disorder) [SNOMED CT concept]
- Ehlers-Danlos syndrome, dermatosparaxis type [ICD-11 More detail]
- Ehlers-danlos syndrome, dermatosparaxis type [OMIM Phenotype]

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