3-methylglutaconic aciduria type 3

Preferred Label : 3-methylglutaconic aciduria type 3;

ICD-11 definition : 3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.;

ICD-11 synonym : MGA3 - [3-methylglutaconic aciduria type 3]; Costeff optic atrophy syndrome; Autosomal recessive optic atrophy type 3; Costeff syndrome; Infantile optic atrophy with chorea and spastic paraplegia; Optic atrophy plus syndrome;

ICD-11 acronym : MGA3;

Details

Origin ID

535412248;

UMLS CUI

C0574084;

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 [ORDO Disease]
- 3-methylglutaconic aciduria type 3 [DO Concept]
- 3-methylglutaconic aciduria, type III [OMIM Phenotype]
- Costeff optic atrophy syndrome [MeSH concept]
- costeff optic atrophy syndrome [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 [DO Concept]
- 3-methylglutaconic aciduria type 3 [ORDO Disease]
- 3-methylglutaconic aciduria, type III [OMIM Phenotype]
- Costeff optic atrophy syndrome [MeSH concept]
- costeff optic atrophy syndrome [MeSH Supplementary Concept]

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