microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic disc drusen

Preferred Label : microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic disc drusen;

MeSH synonym : Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disk Drusen;

Details

Origin ID

C567024;

UMLS CUI

C1970236;

CISMeF manual mappings
- Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Microphthalmia, isolated 5 [OMIM Phenotype]
- Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome (disorder) [SNOMED CT concept]
- isolated microphthalmia 5 [DO Concept]
MeSH term(s) associated for indexing
- microphthalmos [MeSH Descriptor]
- optic disk drusen [MeSH Descriptor]
- retinitis pigmentosa [MeSH Descriptor]
Record concept(s)
- microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic disc drusen [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microphthalmia, isolated 5 [OMIM Phenotype]
- Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome [ORDO Disease]
- isolated microphthalmia 5 [DO Concept]

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