jorgenson lenz syndrome

Preferred Label : jorgenson lenz syndrome;

CISMeF synonym : ptosis, prognathism, microcephaly, radio-ulnar synostosis, short stature/dwarfism;

MeSH synonym : mild short stature, microcephaly, ptosis-blepharophimosis, facial asymmetry, and radioulnar synostosis; blepharophimosis radioulnar synostosis; Ptosis, prognathism, microcephaly, radio-ulnar synostosis, short stature-dwarfism;

Détails

Origin ID

C536292;

UMLS CUI

C2931162;

Currated CISMeF NLP mapping
- Blepharophimosis-radioulnar synostosis syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- blepharophimosis [MeSH Descriptor]
- growth disorders [MeSH Descriptor]
- microcephaly [MeSH Descriptor]
- prognathism [MeSH Descriptor]
- radius [MeSH Descriptor]
- synostosis [MeSH Descriptor]
- ulna [MeSH Descriptor]
Record concept(s)
- Jorgenson Lenz syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Blepharophimosis-radioulnar synostosis syndrome [ORDO Disease]

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