costeff optic atrophy syndrome

Preferred Label : costeff optic atrophy syndrome;

MeSH synonym : optic atrophy plus syndrome; 3-methylglutaconic aciduria, type III; costeff syndrome; optic atrophy, infantile, with chorea and spastic paraplegia; iraqi jewish optic atrophy plus; optic atrophy 3, autosomal recessive; OPA3, autosomal recessive;

Détails

Origin ID

C535311;

UMLS CUI

C0574084;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant optic atrophy and cataract [ORDO Disease]
- Autosomal dominant optic atrophy and cataract (disorder) [SNOMED CT concept]
- Optic atrophy 3, autosomal dominant [OMIM Phenotype]
Currated CISMeF NLP mapping
- 3 methylglutaconic aciduria type III [Disease (Nov.)]
- 3-Methylglutaconic aciduria type 3 (disorder) [SNOMED CT concept]
- 3-methylglutaconic aciduria type 3 [DO Concept]
- 3-methylglutaconic aciduria type 3 [ICD-11 More detail]
- 3-methylglutaconic aciduria type 3 [ORDO Disease]
- 3-methylglutaconic aciduria, type III [OMIM Phenotype]
MeSH term(s) associated for indexing
- chorea [MeSH Descriptor]
- metabolism, inborn errors [MeSH Descriptor]
- optic atrophy [MeSH Descriptor]
- spastic paraplegia, hereditary [MeSH Descriptor]
ORDO relation(s)
- 3-methylglutaconic aciduria type 3 [ORDO Disease]
Record concept(s)
- Costeff optic atrophy syndrome [MeSH concept]
See also (suggested by CISMeF)
- 3-methylglutaconic acid [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3 methylglutaconic aciduria type III [Disease (Nov.)]
- 3-Methylglutaconic aciduria type 3 (disorder) [SNOMED CT concept]
- 3-methylglutaconic aciduria type 3 [ORDO Disease]
- 3-methylglutaconic aciduria type 3 [DO Concept]
- 3-methylglutaconic aciduria type 3 [ICD-11 More detail]
- 3-methylglutaconic aciduria, type III [OMIM Phenotype]

Position du mot-clé dans l'(les) arborescence(s) :

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