aniridia cerebellar ataxia mental deficiency

Preferred Label : aniridia cerebellar ataxia mental deficiency;

MeSH synonym : aniridia, partial-cerebellar ataxia-oligophrenia; gillespie syndrome; aniridia, partial-cerebellar ataxia-mental retardation; aniridia, cerebellar ataxia, and mental deficiency;

Details

Origin ID

C536370;

UMLS CUI

C0431401;

Automatic exact mappings (from CISMeF team)
- Gillespie syndrome [MedDRA LLT]
- Gillespie syndrome [DO Concept]
Currated CISMeF NLP mapping
- Aniridia-cerebellar ataxia-intellectual disability syndrome [ORDO Disease]
- Gillespie syndrome [OMIM Phenotype]
- Gillespie syndrome (disorder) [SNOMED CT concept]
DO Cross reference
- Gillespie syndrome [DO Concept]
MeSH term(s) associated for indexing
- aniridia [MeSH Descriptor]
- cerebellar ataxia [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
Record concept(s)
- Aniridia cerebellar ataxia mental deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aniridia-cerebellar ataxia-intellectual disability syndrome [ORDO Disease]
- Gillespie syndrome [OMIM Phenotype]
- Gillespie syndrome [DO Concept]
- Gillespie syndrome [MedDRA LLT]
- Gillespie syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

Main resources

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