hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility

Preferred Label : hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility;

MeSH synonym : Hamamy syndrome;

Details

Origin ID

C566988;

UMLS CUI

C1970027;

Currated CISMeF NLP mapping
- Craniofacial dysplasia osteopenia syndrome (disorder) [SNOMED CT concept]
- Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome [ORDO Disease]
- Hamamy syndrome [OMIM Phenotype]
MeSH term(s) associated for indexing
- bone diseases [MeSH Descriptor]
- hypertelorism [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- myopia [MeSH Descriptor]
Record concept(s)
- hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Craniofacial dysplasia osteopenia syndrome (disorder) [SNOMED CT concept]
- Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome [ORDO Disease]
- Hamamy syndrome [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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