oculorenocerebellar syndrome

Preferred Label : oculorenocerebellar syndrome;

MeSH note : Absence of the cerebellar granular layer, mental retardation, tapetoretinal degeneration and progressive glomerulopathy;

Details

Origin ID

C537739;

UMLS CUI

C1850331;

Currated CISMeF NLP mapping
- Oculorenocerebellar syndrome [OMIM Phenotype]
- Severe oculo-renal-cerebellar syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- cerebellum [MeSH Descriptor]
- eye abnormalities [MeSH Descriptor]
- kidney [MeSH Descriptor]
Record concept(s)
- Oculorenocerebellar syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Oculorenocerebellar syndrome [OMIM Phenotype]
- Severe oculo-renal-cerebellar syndrome [ORDO Disease]
- Severe oculo-renal-cerebellar syndrome (disorder) [SNOMED CT concept]
Validated automatic mappings to BTNT
- Severe oculo-renal-cerebellar syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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