spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like

Preferred Label : spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like;

MeSH note : mutation in SLC39A13;

MeSH synonym : SCDEDS;

Origin ID

C567340;

UMLS CUI

C2676510;

Currated CISMeF NLP mapping
- Ehlers-Danlos syndrome spondylocheirodysplastic type (disorder) [SNOMED CT concept]
- Ehlers-Danlos syndrome spondylodysplastic type 3 [DO Concept]
- Ehlers-Danlos syndrome, spondylocheirodysplastic type [ICD-11 More detail]
- Ehlers-danlos syndrome, spondylodysplastic type, 3 [OMIM Phenotype]
- SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- ehlers-danlos syndrome [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
Record concept(s)
- spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ehlers-Danlos syndrome spondylocheirodysplastic type (disorder) [SNOMED CT concept]
- Ehlers-danlos syndrome, spondylodysplastic type, 3 [OMIM Phenotype]
- SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome [ORDO Disease]