Mainzer-Saldino disease

Preferred Label : Mainzer-Saldino disease;

MeSH synonym : renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia; Saldino-Mainzer disease; conorenal syndrome; Mainzer-Saldino syndrome;

Details

Origin ID

C535463;

UMLS CUI

C1849437;

Currated CISMeF NLP mapping
- Saldino-Mainzer dysplasia (disorder) [SNOMED CT concept]
- Saldino-Mainzer syndrome [ICD-11 More detail]
- 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]
MeSH term(s) associated for indexing
- cerebellar ataxia [MeSH Descriptor]
- retinitis pigmentosa [MeSH Descriptor]
ORDO relation(s)
- Saldino-Mainzer syndrome [ORDO Disease]
Record concept(s)
- Mainzer-Saldino Disease [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mainzer-Saldino syndrome [MedDRA Preferred Term]
- Saldino-Mainzer dysplasia (disorder) [SNOMED CT concept]
- Saldino-Mainzer syndrome [ORDO Disease]
- Saldino-Mainzer syndrome [ICD-11 More detail]
- 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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