metaphyseal chondrodysplasia with retinitis pigmentosa

Preferred Label : metaphyseal chondrodysplasia with retinitis pigmentosa;

Origin ID

C565398;

UMLS CUI

C1855188;

Currated CISMeF NLP mapping
- Brachydactyly-short stature-retinitis pigmentosa syndrome [ORDO Disease]
- Retinitis pigmentosa with or without skeletal anomalies [OMIM Phenotype]
MeSH term(s) associated for indexing
- osteochondrodysplasias [MeSH Descriptor]
- retinitis pigmentosa [MeSH Descriptor]
Record concept(s)
- metaphyseal chondrodysplasia with retinitis pigmentosa [MeSH concept]
See also inter- (CISMeF)
- Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brachydactyly-short stature-retinitis pigmentosa syndrome [ORDO Disease]
- Retinitis pigmentosa with or without skeletal anomalies [OMIM Phenotype]