27718001: maladie des urines à odeur de sirop d'érable (trouble)

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

\Genetic disease\maladie héréditaire\...

\Inborn error of metabolism\cétoacidurie à chaines ramifiées

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\cétoacidurie à chaines ramifiées

\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
\trouble métabolique\Inborn error of metabolism\cétoacidurie à chaines ramifiées
\trouble métabolique\Enzymopathy\cétoacidurie à chaines ramifiées

\Congenital disease\Inborn error of metabolism\cétoacidurie à chaines ramifiées

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1225519017 Branched chain ketoacid dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1225520011 BCKD - Branched chain alpha-ketoacid dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

1225521010 MSUD - Maple syrup urine disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

1225522015 Oxo-acid decarboxylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

196615010 Ketoacidemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

196616011 Branched chain ketoaciduria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

198631000172115 cétoacidurie à chaines ramifiées fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

46396017 Maple syrup urine disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

46398016 Branched-chain alpha-keto acid dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

46399012 BCKD deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

46400017 MSUD en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

46401018 Ketoacid decarboxylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

483637010 Ketoacidaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

758317019 Maple syrup urine disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

81691000172116 maladie des urines à odeur de sirop d'érable fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

857121000241118 maladie des urines à odeur de sirop d'érable (trouble) fr Fully specified name 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
cétoacidurie à chaines ramifiées	est un(e) (attribut)	Enzymopathy	true	Inferred relationship	Some
cétoacidurie à chaines ramifiées	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
cétoacidurie à chaines ramifiées	est un(e) (attribut)	Disorder of branched-chain amino acid metabolism	true	Inferred relationship	Some
cétoacidurie à chaines ramifiées	est un(e) (attribut)	Inborn error of metabolism	true	Inferred relationship	Some
cétoacidurie à chaines ramifiées	survenue (attribut)	congénital	true	Inferred relationship	Some	1
cétoacidurie à chaines ramifiées	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Intermittent maple syrup urine disease	est un(e) (attribut)	False	cétoacidurie à chaines ramifiées	Inferred relationship	Some
Mild maple syrup urine disease	est un(e) (attribut)	True	cétoacidurie à chaines ramifiées	Inferred relationship	Some
Dihydrolipoamide dehydrogenase deficiency	est un(e) (attribut)	True	cétoacidurie à chaines ramifiées	Inferred relationship	Some
maladie du sirop d'érable sensible à la thiamine (trouble)	est un(e) (attribut)	True	cétoacidurie à chaines ramifiées	Inferred relationship	Some
maladie du sirop d'érable classique (trouble)	est un(e) (attribut)	True	cétoacidurie à chaines ramifiées	Inferred relationship	Some
Intermediate maple syrup urine disease (disorder)	est un(e) (attribut)	True	cétoacidurie à chaines ramifiées	Inferred relationship	Some
Intermittent maple syrup urine disease (disorder)	est un(e) (attribut)	True	cétoacidurie à chaines ramifiées	Inferred relationship	Some
Maple syrup urine disease, multiple dehydrogenase form	est un(e) (attribut)	True	cétoacidurie à chaines ramifiées	Inferred relationship	Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)