Ketoacidosis due to monocarboxylate transporter-1 deficiency

disorder

SNOMED 1216941002CUI C4015186

Overview

Ketoacidosis due to monocarboxylate transporter-1 deficiency is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

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

Ketoacidosis

Always present (100%)HP:0001993

Ketonaciduria

Frequent (30-79%)HP:0002919

Mental-retardation

Frequent (30-79%)HP:0001249

Feeding difficulties

HP:0011968

Ketotic hypoglycemia

HP:0012734

Psychomotor development deficiency

HP:0001263

Related Conditions

Metabolic disorder of transport(parent)

Autosomal hereditary disorder(parent)

Ketoacidosis(parent)

Inborn error of metabolism(parent)

Quick Facts

SNOMED CT: 1216941002
UMLS CUI: C4015186
Fully Specified Name: Ketoacidosis due to monocarboxylate transporter-1 deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 6

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.