mesomelia-synostoses syndrome

Preferred Label : mesomelia-synostoses syndrome;

MeSH note : Dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis;

MeSH synonym : Verloes-David syndrome; mesomelia synostoses;

Details

Origin ID

C537348;

UMLS CUI

C1838162;

CISMeF manual mappings
- Mesomelia-synostoses syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- 8q13 microdeletion syndrome (disorder) [SNOMED CT concept]
- Mesomelia-synostoses syndrome [OMIM Phenotype]
- Verloes-David syndrome [ICD-11 More detail]
Has phenotype(s) (HPO)
- Mesomelic short stature [HPO term]
- Mild vertebral anomalies [HPO term]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- limb deformities, congenital [MeSH Descriptor]
- synostosis [MeSH Descriptor]
Record concept(s)
- Mesomelia-synostoses syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 8q13 microdeletion syndrome (disorder) [SNOMED CT concept]
- Mesomelia-synostoses syndrome [OMIM Phenotype]
- Mesomelia-synostoses syndrome [ORDO Disease]
- Verloes-David syndrome [ICD-11 More detail]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients