444756000: Disorder of valine metabolism (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of branched-chain amino acid metabolism\Disorder of valine metabolism (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2010. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2870387019 Disorder of valine metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2870886015 Disorder of valine metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5344961000241117 trouble du métabolime de la valine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Disorder of valine metabolism (disorder)	Is a	Disorder of branched-chain amino acid metabolism	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Valinosis	Is a	True	Disorder of valine metabolism (disorder)	Inferred relationship	Some
Deficiency of valine-transfer ribonucleic acid ligase (disorder)	Is a	True	Disorder of valine metabolism (disorder)	Inferred relationship	Some
Beta-hydroxyisobutyryl-coenzyme A deacylase deficiency	Is a	False	Disorder of valine metabolism (disorder)	Inferred relationship	Some
Isobutyrylglycinuria (disorder)	Is a	True	Disorder of valine metabolism (disorder)	Inferred relationship	Some
3-Hydroxyisobutyric aciduria	Is a	True	Disorder of valine metabolism (disorder)	Inferred relationship	Some
Hypervalinemia	Is a	True	Disorder of valine metabolism (disorder)	Inferred relationship	Some
Disease with characteristics of delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase which is caused by homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32.	Is a	True	Disorder of valine metabolism (disorder)	Inferred relationship	Some
An inborn error of valine metabolism with prevalence unknown. Only one symptomatic patient with anemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency has been described so far, with several more identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).	Is a	True	Disorder of valine metabolism (disorder)	Inferred relationship	Some

This concept is not in any reference sets