Oliver-McFarlane syndrome

Preferred Label : Oliver-McFarlane syndrome;

MeSH note : Very long eyelashes and eyebrows, mental retardation, and pigmentary degeneration of the retina; Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina;

MeSH synonym : trichomegaly retina pigmentary degeneration dwarfism; eyelashes long mental retardation; congenital trichomegaly, pigmentary retinal degeneration, and short stature; oliver McFarlane syndrome;

Details

Origin ID

C536554;

UMLS CUI

C1848745;

Automatic exact mappings (from CISMeF team)
- Oliver-McFarlane syndrome [DO Concept]
- Trichomegaly - retina pigmentary degeneration - dwarfism [ICD-11 More detail]
- Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Oliver-mcfarlane syndrome [OMIM Phenotype]
- Trichomegaly-retina pigmentary degeneration-dwarfism syndrome [ORDO Disease]
DO Cross reference
- Oliver-McFarlane syndrome [DO Concept]
MeSH term(s) associated for indexing
- blepharoptosis [MeSH Descriptor]
- developmental disabilities [MeSH Descriptor]
- dwarfism [MeSH Descriptor]
- hypertrichosis [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- retinitis pigmentosa [MeSH Descriptor]
Record concept(s)
- Oliver-McFarlane syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital trichomegaly [MedDRA Preferred Term]
- Oliver-McFarlane syndrome [DO Concept]
- Oliver-mcfarlane syndrome [OMIM Phenotype]
- Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) [SNOMED CT concept]
- Trichomegaly-retina pigmentary degeneration-dwarfism syndrome [ORDO Disease]

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