dysequilibrium syndrome

Preferred Label : dysequilibrium syndrome;

MeSH note : PROM mutation in VLDLR gene;

CISMeF acronym : Vldlr-Ch;

MeSH synonym : cerebellar disorder, nonprogressive, with mental retardation; cerebellar hypoplasia, VLDLR associated; cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1; cerebellar ataxia, congenital, and mental retardation, autosomal recessive; cerebellar hypoplasia, VLDLR-Associated; CAMRQ1; Vldlr-Associated cerebellar hypoplasia; autosomal recessive cerebellar ataxia with mental retardation; autosomal recessive cerebellar hypoplasia with cerebral gyral simplification; cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion; Chmrq1; Des-Vldlr; dysequilibrium Syndrome-Vldlr; Vldlr-Ch; vldlrch;

Details

Origin ID

C535731;

UMLS CUI

C4551552;

Currated CISMeF NLP mapping
- Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 [OMIM Phenotype]
- Cerebellar dysfunction with variable cognitive and behavioral abnormalities [OMIM Phenotype]
- Disequilibrium syndrome [MedDRA LLT]
- Dysequilibrium syndrome [ORDO Disease]
- Dysequilibrium syndrome (disorder) [SNOMED CT concept]
- Non-progressive cerebellar ataxia with intellectual disability [ORDO Disease]
- Non-progressive cerebellar ataxia with intellectual disability (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- cerebellar ataxia [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
ORDO relation(s)
- Dysequilibrium syndrome [ORDO Disease]
Record concept(s)
- Dysequilibrium syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 [OMIM Phenotype]

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