54064006: Classical maple syrup urine disease (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Maple syrup urine disease\Classical maple syrup urine disease

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Maple syrup urine disease\Classical maple syrup urine disease

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Maple syrup urine disease\Classical maple syrup urine 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\Maple syrup urine disease\Classical maple syrup urine disease
\Metabolic disease\Enzymopathy\Maple syrup urine disease\Classical maple syrup urine disease

\Congenital disease (disorder)\Inborn error of metabolism\Maple syrup urine disease\Classical maple syrup urine disease

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

89857018 Classical maple syrup urine disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

792254013 Classical maple syrup urine disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1231286015 Severe branched chain ketoacid dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

950121000172118 maladie du sirop d'érable classique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

962301000172119 cétoacidurie à chaînes ramifiées classique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

926501000172117 klassieke maple syrup urine disease nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

1015981000172110 klassieke BCKD (branched-chain alpha-ketoacid dehydrogenase)-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Classical maple syrup urine disease	Is a	Maple syrup urine disease	true	Inferred relationship	Some
Classical maple syrup urine disease	Occurrence	Congenital	true	Inferred relationship	Some	1
Classical maple syrup urine disease	Finding site	Body system structure	false	Inferred relationship	Some
Classical maple syrup urine disease	Severity	Severe (severity modifier) (qualifier value)	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

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This concept is not in any reference sets