361203007: Malonic aciduria (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\Malonic aciduria

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Malonic aciduria

\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\Malonic aciduria

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\Malonic aciduria
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of fatty acid metabolism (disorder)\Malonic aciduria
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism (disorder)\Malonic aciduria

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

477703016 Malonic aciduria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

743244019 Malonic aciduria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5314323015 MLYCD-gene related malonic aciduria en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4594816015 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

477703016 Malonic aciduria en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

477703016 Malonic aciduria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

743244019 Malonic aciduria (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

743244019 Malonic aciduria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5314323015 MLYCD-gene related malonic aciduria en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4594816015 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3431341001000114 Malonazidurie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

920101000172112 déficit en malonyl-CoA décarboxylase fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

986341000172118 acidurie malonique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

920101000172112 déficit en malonyl-CoA décarboxylase fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

986341000172118 acidurie malonique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3431341001000114 Malonazidurie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Malonic aciduria	Is a	Disorder of fatty acid metabolism (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Malonic aciduria	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Malonic aciduria	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Malonic aciduria	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Malonic aciduria	Due to	Deficiency of malonyl-coenzyme A decarboxylase (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Combined malonic and methylmalonic aciduria	Is a	False	Malonic aciduria	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets