rozin hertz goodman syndrome

Preferred Label : rozin hertz goodman syndrome;

CISMeF synonym : camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye;

MeSH synonym : camptodactyly, joint contractures, facial skeletal defects;

Details

Origin ID

C535876;

UMLS CUI

C2931051;

Currated CISMeF NLP mapping
- Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) [SNOMED CT concept]
- Camptodactyly-joint contractures-facial skeletal defects syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- contracture [MeSH Descriptor]
- craniofacial abnormalities [MeSH Descriptor]
- eye abnormalities [MeSH Descriptor]
- hand deformities, congenital [MeSH Descriptor]
Record concept(s)
- Rozin Hertz Goodman syndrome [MeSH concept]
- camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye [MeSH concept]
See also inter- (CISMeF)
- Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) [SNOMED CT concept]
- Camptodactyly-joint contractures-facial skeletal defects syndrome [ORDO Disease]

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