Saldino-Mainzer syndrome

Preferred Label : Saldino-Mainzer syndrome;

ICD-11 definition : Saldino-Mainzer syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia (shortened phalanges with cone-shaped epiphyses).;

Details

Origin ID

704951474;

UMLS CUI

C1849437;

Currated CISMeF NLP mapping
- Mainzer-Saldino Disease [MeSH concept]
- Mainzer-Saldino disease [MeSH Supplementary Concept]
- Saldino-Mainzer dysplasia (disorder) [SNOMED CT concept]
- Saldino-Mainzer syndrome [ORDO Disease]
- Short-rib thoracic dysplasia 9 with or without polydactyly [OMIM Phenotype]
- short-rib thoracic dysplasia 9 with or without polydactyly [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mainzer-Saldino Disease [MeSH concept]
- Mainzer-Saldino disease [MeSH Supplementary Concept]
- Mainzer-Saldino syndrome [MedDRA Preferred Term]
- Saldino-Mainzer dysplasia (disorder) [SNOMED CT concept]
- Saldino-Mainzer syndrome [ORDO Disease]
- Short-rib thoracic dysplasia 9 with or without polydactyly [OMIM Phenotype]
- short-rib thoracic dysplasia 9 with or without polydactyly [DO Concept]

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