corneodermatoosseous syndrome

Preferred Label : corneodermatoosseous syndrome;

MeSH synonym : corneal dystrophy epithelial and short stature; corneal dystrophy, epithelial, with skin and skeletal changes; CDO syndrome;

Details

Origin ID

C536444;

UMLS CUI

C1852542;

Automatic exact mappings (from CISMeF team)
- Stern-Lubinsky-Durrie syndrome [ICD-11 More detail]
- X-linked corneal dermoid [ORDO Disease]
Currated CISMeF NLP mapping
- Corneodermatoosseous syndrome [OMIM Phenotype]
- Corneodermatoosseous syndrome [ORDO Disease]
- Stern Lubinsky Durrie syndrome (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- corneal dystrophies, hereditary [MeSH Descriptor]
- keratoderma, palmoplantar [MeSH Descriptor]
- lower extremity deformities, congenital [MeSH Descriptor]
ORDO relation(s)
- Corneodermatoosseous syndrome [ORDO Disease]
Record concept(s)
- Corneodermatoosseous syndrome [MeSH concept]
See also (suggested by CISMeF)
- stern lubinsky durrie syndrome [MeSH Supplementary Concept]
See also inter- (CISMeF)
- X-linked corneal dermoid [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Corneodermatoosseous syndrome [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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