jequier kozlowski skeletal dysplasia

Preferred Label : jequier kozlowski skeletal dysplasia;

MeSH synonym : facies unusual arthrogryposis advanced skeletal maturation; round face, short small nose, advanced bone age, enlarged diaphysis; cloverleaf skull and bone dysplasias;

Détails

Origin ID

C537569;

UMLS CUI

C2931534;

Automatic exact mappings (from CISMeF team)
- spondylometaphyseal dysplasia Kozlowski type [DO Concept]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- arthrogryposis [MeSH Descriptor]
- craniofacial abnormalities [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
Record concept(s)
- Jequier Kozlowski skeletal dysplasia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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