445571008: Isobutyrylglycinuria (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Disorder of organic acid metabolism\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)\Isobutyrylglycinuria (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

2869391019 Isobutyrylglycinuria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2872340017 Isobutyrylglycinuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4819111000005114 isobutyrylglycinuri da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Isobutyrylglycinuria (disorder)	Is a	Disorder of valine metabolism (disorder)	true	Inferred relationship	Some
Isobutyrylglycinuria (disorder)	Due to	Deficiency of isobutyryl-CoA dehydrogenase	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets