mental retardation, X-Linked, syndromic 10

Preferred Label : mental retardation, X-Linked, syndromic 10;

MeSH synonym : mental retardation with chorioathetosis and abnormal behavior; MRXS10; chorioathetosis with mental retardation and abnormal behavior; Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency; 17-Beta-Hydroxysteroid Dehydrogenase X Deficiency; Hydroxyacyl-CoA Dehydrogenase II Deficiency; 2-Methyl-3-Hydroxybutyric Aciduria; 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency; 3-Hydroxy-2-Methylbutyryl-CoA Dehydrogenase Deficiency; 3-Hydroxyacyl-CoA Dehydrogenase II Deficiency; 3-Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency; HSD17B10 Deficiency; 17beta-Hydroxysteroid Dehydrogenase Type 10 Deficiency;

Détails

Origin ID

C564560;

UMLS CUI

C3266731;

Currated CISMeF NLP mapping
- 2 methyl 3 hydroxybutyryl CoA dehydrogenase deficiency [Disease (Nov.)]
- 2-methyl-3-hydroxybutyric aciduria (disorder) [SNOMED CT concept]
- HSD10 disease [ORDO Disease]
- Hsd10 mitochondrial disease [OMIM Phenotype]
- Mental retardation, x-linked, syndromic 10 [OMIM Phenotype]
- Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency [ICD-11 More detail]
- Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency [ORDO Disease]
- Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- X-Linked Intellectual Disability [MeSH Descriptor]
- dyskinesias [MeSH Descriptor]
Record concept(s)
- mental retardation, X-Linked, syndromic 10 [MeSH concept]
See also inter- (CISMeF)
- Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 2-methyl-3-hydroxybutyric aciduria (disorder) [SNOMED CT concept]
- Hsd10 mitochondrial disease [OMIM Phenotype]

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

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