1293018007: Deficiency of methylmalonyl-coenzyme A epimerase (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of methylmalonyl-coenzyme A epimerase (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Nov 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5277077017 Deficiency of methylmalonyl-coenzyme A epimerase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5277078010 Deficiency of methylmalonyl-CoA racemase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5277079019 Deficiency of methylmalonyl-CoA epimerase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5277080016 Deficiency of methylmalonyl-coenzyme A epimerase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5277081017 Deficiency of methylmalonyl-coenzyme A racemase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of methylmalonyl-coenzyme A epimerase (disorder)	Is a	Specific enzyme deficiency	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.	Due to	True	Deficiency of methylmalonyl-coenzyme A epimerase (disorder)	Inferred relationship	Some	2

This concept is not in any reference sets