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702365002: Combined malonic and methylmalonic aciduria (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4594817012 A rare inborn error of metabolism with characteristics of elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. The disease presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
2995217019 CMAMMA - combined malonic and methylmalonic aciduria en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2995400012 Combined malonic and methylmalonic aciduria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2995645019 Combined malonic and methylmalonic aciduria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5845081000241112 acidurie malonique combinée à une acidurie méthylmalonique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5845091000241114 acidurie combinée malonique et méthylmalonique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3388621001000119 Malon- und Methylmalonazidurie, kombinierte de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Combined malonic and methylmalonic aciduria Is a A rare metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD). This condition usually presents in early childhood and the manifestations are variable. The disease is caused by mutations in the malonyl-CoA decarboxylase gene (MLYCD, chromosome 16q24) and is inherited as an autosomal recessive trait. The MCD enzyme is involved in the degradation of malonyl-CoA and it appears that inhibition of fatty acid synthesis as a result of malonyl-CoA accumulation is responsible for at least some of the clinical manifestations of the disorder. false Inferred relationship Some
Combined malonic and methylmalonic aciduria Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Combined malonic and methylmalonic aciduria Is a Methylmalonic acidemia true Inferred relationship Some
Combined malonic and methylmalonic aciduria Occurrence Congenital true Inferred relationship Some 1
Combined malonic and methylmalonic aciduria Is a Disorder of fatty acid metabolism true Inferred relationship Some
Combined malonic and methylmalonic aciduria Is a Autosomal hereditary disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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