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Deficiency of beta-keto-reductase

disorder
SNOMED 124122005CUI C1291230

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Cardiomyopathy, hypertrophic
HP:0001639
Central hypotonia
HP:0001252
Decreased 3-hydroxyacyl-CoA dehydrogenase level
HP:0100950
Dicarboxylic aciduria
HP:0003215
Fatty liver
HP:0001397
Feeding difficulties in infancy
HP:0008872
Fulminant hepatic failure
HP:0004448
Generalised decreased muscle tone
HP:0001290
Growth failure
HP:0001510
Hepatic necrosis
HP:0002605
Hypoglycemic encephalopathy
HP:0006929
Hypoglycemic seizures
HP:0002173
Hypoketotic hypoglycemia
HP:0001985
Myoglobinuria
HP:0002913
Stretched and thinned heart muscle
HP:0001644

Quick Facts

SNOMED CT
124122005
UMLS CUI
C1291230
Fully Specified Name
Deficiency of 3-hydroxyacyl-CoA dehydrogenase (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
15
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.