erythrokeratodermia with ataxia

Preferred Label : erythrokeratodermia with ataxia;

MeSH synonym : giroux barbeau syndrome; erythrokeratodermia ataxia;

Origin ID

C535738;

UMLS CUI

C1851481;

Currated CISMeF NLP mapping
- Spinocerebellar ataxia 34 [OMIM Phenotype]
- Spinocerebellar ataxia type 34 [ORDO Disease]
- Spinocerebellar ataxia type 34 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia type 34 [DO Concept]
MeSH term(s) associated for indexing
- ataxia [MeSH Descriptor]
- skin diseases, genetic [MeSH Descriptor]
ORDO relation(s)
- Spinocerebellar ataxia type 34 [ORDO Disease]
Record concept(s)
- Erythrokeratodermia with ataxia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar ataxia 34 [OMIM Phenotype]
- Spinocerebellar ataxia type 34 [ORDO Disease]
- Spinocerebellar ataxia type 34 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia type 34 [DO Concept]