verloes van maldergem marneffe syndrome

Preferred Label : verloes van maldergem marneffe syndrome;

MeSH synonym : microspherophakia-metaphyseal dysplasia; dominantly inherited bone dysplasia with severe eye involvement;

Details

Origin ID

C536540;

UMLS CUI

C1834880;

CISMeF manual mappings
- Microspherophakia with metaphyseal dysplasia syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Microspherophakia-metaphyseal dysplasia [OMIM Phenotype]
- Microspherophakia-metaphyseal dysplasia syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- lens, crystalline [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
Record concept(s)
- Verloes Van Maldergem Marneffe syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microspherophakia-metaphyseal dysplasia [OMIM Phenotype]
- Microspherophakia-metaphyseal dysplasia syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients