444755001: stoornis van metabolisme van isoleucine (aandoening)

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 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

6904041000146118 stofwisselingsstoornis van isoleucine nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7987541000146115 stoornis van metabolisme van isoleucine (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8034701000146113 stoornis van metabolisme van isoleucine nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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-transfer ribonucleic acid ligase (disorder)	Is a	True	Disorder of isoleucine metabolism (disorder)	Inferred relationship	Some
Isoleucinosis	Is a	True	Disorder of isoleucine metabolism (disorder)	Inferred relationship	Some
2-methylbutyryl glycinurie	Is a	False	Disorder of isoleucine metabolism (disorder)	Inferred relationship	Some
2-methyl-3-hydroxybutyric aciduria (disorder)	Is a	True	Disorder of isoleucine metabolism (disorder)	Inferred relationship	Some
2-methylbutyryl-coenzyme A dehydrogenase deficiency disease	Is a	True	Disorder of isoleucine metabolism (disorder)	Inferred relationship	Some

This concept is not in any reference sets