tukel syndrome

Preferred Label : tukel syndrome;

MeSH synonym : congenital extraocular muscle fibrosis with ulnar hand anomalies; fibrosis of extraocular muscles, congenital, with ulnar hand anomalies;

Details

Origin ID

C536925;

UMLS CUI

C1836217;

Automatic exact mappings (from CISMeF team)
- Tukel syndrome [ICD-11 More detail]
- congenital fibrosis of the extraocular muscles [DO Concept]
Currated CISMeF NLP mapping
- Tukel syndrome [OMIM Phenotype]
Has phenotype(s) (HPO)
- Restrictive ophthalmoplegia [HPO term]
MeSH term(s) associated for indexing
- fibrosis [MeSH Descriptor]
- hand deformities, congenital [MeSH Descriptor]
- ocular motility disorders [MeSH Descriptor]
- ulna [MeSH Descriptor]
Record concept(s)
- Tukel syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Tukel syndrome [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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