444755001: Disorder of isoleucine 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 isoleucine 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

2870386011 Disorder of isoleucine metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2870885016 Disorder of isoleucine metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5344941000241118 trouble du métabolisme de l'isoleucine 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 isoleucine metabolism (disorder)	Is a	Disorder of branched-chain amino acid metabolism	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Deficiency of isoleucine-tRNA ligase	Is a	True	Disorder of isoleucine metabolism (disorder)	Inferred relationship	Some
Isoleucinosis	Is a	True	Disorder of isoleucine metabolism (disorder)	Inferred relationship	Some
2-méthylbutyrylglycinurie	Is a	False	Disorder of isoleucine metabolism (disorder)	Inferred relationship	Some
HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.	Is a	True	Disorder of isoleucine metabolism (disorder)	Inferred relationship	Some
A rare organic aciduria with characteristics of impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported.	Is a	True	Disorder of isoleucine metabolism (disorder)	Inferred relationship	Some

This concept is not in any reference sets