raine syndrome

Preferred Label : raine syndrome;

MeSH note : Combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis;

MeSH synonym : lethal osteosclerotic bone dysplasia; osteosclerotic bone dysplasia, lethal; Osteomalacia, Sclerosing, with Cerebral Calcification;

Details

Origin ID

C535282;

UMLS CUI

C1850106;

Automatic exact mappings (from CISMeF team)
- Raine dysplasia (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Lethal osteosclerotic bone dysplasia [ICD-11 More detail]
- Lethal osteosclerotic bone dysplasia [ORDO Disease]
- Raine syndrome [Disease (Nov.)]
- Raine syndrome [OMIM Phenotype]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- cleft palate [MeSH Descriptor]
- exophthalmos [MeSH Descriptor]
- microcephaly [MeSH Descriptor]
- osteosclerosis [MeSH Descriptor]
Record concept(s)
- Raine syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lethal osteosclerotic bone dysplasia [ORDO Disease]
- Lethal osteosclerotic bone dysplasia [ICD-11 More detail]
- Raine dysplasia (disorder) [SNOMED CT concept]
- Raine syndrome [OMIM Phenotype]
- Raine syndrome [Disease (Nov.)]
- Raine syndrome [MedDRA Preferred Term]

Keyword's position in hierarchy(ies) :

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