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42393006: Methylmalonic acidemia (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1229858012 MMA - Methylmalonic aciduria en Synonym Active Case sensitive SNOMED CT core
493300012 Methylmalonic acidaemia en Synonym Active Case insensitive SNOMED CT core
70730010 Methylmalonic acidemia en Synonym Active Case insensitive SNOMED CT core
779287015 Methylmalonic acidemia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

12 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Methylmalonic acidaemia Is a Acidaemia true Inferred relationship Some
Methylmalonic acidaemia Is a Non-amino organic acidaemia AND/OR aciduria true Inferred relationship Some
Methylmalonic acidaemia Is a Disorder of branched-chain amino acid metabolism true Inferred relationship Some
Methylmalonic acidaemia Is a Disorder of propionate AND/OR methylmalonate metabolism true Inferred relationship Some
Methylmalonic acidaemia Occurrence Congenital false Inferred relationship Some
Methylmalonic acidaemia Finding site Body system structure false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Methylmalonic aciduria due to transcobalamin receptor defect Is a True Methylmalonic acidaemia Inferred relationship Some
Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria Is a True Methylmalonic acidaemia Inferred relationship Some
Methylmalonyl-CoA mutase deficiency Is a False Methylmalonic acidaemia Inferred relationship Some
Adenosylcobalamin and methylcobalamin synthesis defect Is a True Methylmalonic acidaemia Inferred relationship Some
Adenosylcobalamin synthesis defect Is a True Methylmalonic acidaemia Inferred relationship Some
Combined malonic and methylmalonic aciduria Is a True Methylmalonic acidaemia Inferred relationship Some
Family history of methylmalonic aciduria Associated finding True Methylmalonic acidaemia Inferred relationship Some 1
Fatal infantile lactic acidosis with methylmalonic aciduria Is a True Methylmalonic acidaemia Inferred relationship Some
Methylmalonic acidaemia due to methylmalonyl-coenzyme A epimerase deficiency Is a True Methylmalonic acidaemia Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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