405288003: Intermittent 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\Intermittent maple syrup urine disease (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Maple syrup urine disease\Intermittent maple syrup urine disease (disorder)

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Maple syrup urine disease\Intermittent maple syrup urine disease (disorder)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Maple syrup urine disease\Intermittent maple syrup urine disease (disorder)
\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\Intermittent maple syrup urine disease (disorder)
\Metabolic disease\Enzymopathy\Maple syrup urine disease\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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Intermittent maple syrup urine disease (disorder)	Is a	Maple syrup urine disease	true	Inferred relationship	Some
Intermittent maple syrup urine disease (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Intermittent maple syrup urine disease (disorder)	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets