1216941002: Ketoacidosis due to monocarboxylate transporter-1 deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Ketoacidosis due to monocarboxylate transporter-1 deficiency
• \Autosomal hereditary disorder\Ketoacidosis due to monocarboxylate transporter-1 deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Ketoacidosis due to monocarboxylate transporter-1 deficiency
• \Metabolic disease\Metabolic disorder of transport\Ketoacidosis due to monocarboxylate transporter-1 deficiency
• \Metabolic disease\Disorder of acid-base balance\Acidosis\Metabolic acidosis\Metabolic acidosis, increased anion gap (IAG)\Metabolic acidosis, IAG, accumulation of organic acids\Ketoacidosis\Ketoacidosis due to monocarboxylate transporter-1 deficiency
• \Congenital disease\Inborn error of metabolism\Ketoacidosis due to monocarboxylate transporter-1 deficiency

Status: current, Primitive. Date: 30-Apr 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5033749012	Ketoacidosis due to monocarboxylate transporter-1 deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5033750012	Ketoacidosis due to monocarboxylate transporter-1 deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
5033751011	A rare disorder of ketone body transport characterised by recurrent episodes of ketoacidosis provoked by fasting or infections in the first years of life. The episodes are typically preceded by poor feeding and vomiting and are associated with dehydration, in severe cases also with decreased consciousness and insufficient respiratory drive. Hypoglycaemia is observed only infrequently. Patients with homozygous mutations tend to present at a younger age, have more profound ketoacidosis, and may show mild to moderate developmental delay in addition.	en	Definition	Active	Case sensitive	SNOMED CT core
5033752016	A rare disorder of ketone body transport characterized by recurrent episodes of ketoacidosis provoked by fasting or infections in the first years of life. The episodes are typically preceded by poor feeding and vomiting and are associated with dehydration, in severe cases also with decreased consciousness and insufficient respiratory drive. Hypoglycemia is observed only infrequently. Patients with homozygous mutations tend to present at a younger age, have more profound ketoacidosis, and may show mild to moderate developmental delay in addition.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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