Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Preferred Label : Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency;

ICD-11 definition : This refers to deficiency in a rare condition that prevents the body from converting certain fats to energy, particularly during fasting.;

ICD-11 synonym : 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency; MHBD deficiency; SCHAD - [Short chain 3-hydroxyacyl-CoA dehydrogenase] deficiency; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency; 17b-hydroxysteroid dehydrogenase deficiency type 10; MHBD - [2-methyl-3-hydroxybutyryl-CoA dehydrogenase] deficiency; SCHAD deficiency;

Détails

Origin ID

1856599173;

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 [ORDO Disease]
- Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) [SNOMED CT concept]
- mental retardation, X-Linked, syndromic 10 [MeSH Supplementary Concept]
- mental retardation, X-Linked, syndromic 10 [MeSH concept]
See also inter- (CISMeF)
- 2-methyl-3-hydroxybutyryl-coenzyme A dehydrogenase [MeSH concept]
- 2-methyl-3-hydroxybutyryl-coenzyme A dehydrogenase [MeSH Supplementary Concept]
- 3-hydroxy-2-methylbutyryl-coa dehydrogenase [SNOMED Notion]
- 3-hydroxy-2-methylbutyryl-coenzyme A dehydrogenase (substance) [SNOMED CT concept]
- HSD10 disease [ORDO Disease]
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency [ORDO Disease]
- Mental retardation, x-linked, syndromic 10 [OMIM Phenotype]
- mental retardation, X-Linked, syndromic 10 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- 3-hydroxyacyl-coa dehydrogenase deficiency [OMIM Phenotype]
- 3-hydroxyacyl-coa dehydrogenase deficiency [MeSH Supplementary Concept]

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

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