405288003: maladie du sirop d'érable intermittente (trouble)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\...

\Inborn error of metabolism\cétoacidurie à chaines ramifiées\Intermittent maple syrup urine disease (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\cétoacidurie à chaines ramifiées\Intermittent maple syrup urine disease (disorder)

\trouble métabolique\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\cétoacidurie à chaines ramifiées\Intermittent maple syrup urine disease (disorder)
\trouble métabolique\Inborn error of metabolism\cétoacidurie à chaines ramifiées\Intermittent maple syrup urine disease (disorder)
\trouble métabolique\Enzymopathy\cétoacidurie à chaines ramifiées\Intermittent maple syrup urine disease (disorder)

\Congenital disease\Inborn error of metabolism\cétoacidurie à chaines ramifiées\Intermittent maple syrup urine disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2004. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2149118017 Intermittent maple syrup urine disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2157108014 Intermittent maple syrup urine disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2163055019 Intermittent branched chain ketoaciduria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2163056018 Partial branched chain ketoacid dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2163057010 Intermittent branched-chain ketoaciduria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

637941000241119 maladie du sirop d'érable intermittente (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

944801000172112 cétoacidurie à chaînes ramifiées intermittente fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

960711000172116 maladie du sirop d'érable intermittente fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Intermittent maple syrup urine disease (disorder)	est un(e) (attribut)	cétoacidurie à chaines ramifiées	true	Inferred relationship	Some
Intermittent maple syrup urine disease (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Intermittent maple syrup urine disease (disorder)	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some

Inbound Relationships

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Characteristic

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Group

This concept is not in any reference sets