rhizomelic syndrome

Preferred Label : rhizomelic syndrome;

MeSH synonym : familial rhizomelic dysplasia; rhizomelic dysplasia, familial;

Origin ID

C537611;

UMLS CUI

C1849382;

CISMeF manual mappings
- Rhizomelic Dysplasia [NCIt concept]
Currated CISMeF NLP mapping
- Rhizomelic dysplasia (disorder) [SNOMED CT concept]
- Rhizomelic syndrome [OMIM Phenotype]
- Rhizomelic syndrome, Urbach type [ORDO Disease]
Has phenotype(s) (HPO)
- Rhizomelic shortening [HPO term]
MeSH term(s) associated for indexing
- bone diseases, developmental [MeSH Descriptor]
- femur [MeSH Descriptor]
- humerus [MeSH Descriptor]
ORDO relation(s)
- Rhizomelic syndrome, Urbach type [ORDO Disease]
Record concept(s)
- Rhizomelic syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rhizomelic syndrome [OMIM Phenotype]
- Rhizomelic syndrome, Urbach type [ORDO Disease]
Validated automatic mappings to BTNT
- Rhizomelic syndrome Urbach type (disorder) [SNOMED CT concept]