primrose syndrome

Preferred Label : primrose syndrome;

MeSH note : Ossified ear cartilages with mental deficiency, muscle wasting, and bony changes;

CISMeF synonym : ossified ear cartilages with mental deficiency, muscle wasting, and bony changes;

Details

Origin ID

C536420;

UMLS CUI

C0796121;

Currated CISMeF NLP mapping
- Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder) [SNOMED CT concept]
- Intellectual disability-cataracts-calcified pinnae-myopathy syndrome [ORDO Disease]
- Primrose syndrome [OMIM Phenotype]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- calcinosis [MeSH Descriptor]
- ear diseases [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- muscular atrophy [MeSH Descriptor]
Record concept(s)
- Primrose syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder) [SNOMED CT concept]
- Intellectual disability-cataracts-calcified pinnae-myopathy syndrome [ORDO Disease]
- Primrose syndrome [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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