405287008: Intermediate 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\Intermediate maple syrup urine disease (disorder)

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

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

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

2149117010 Intermediate maple syrup urine disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2157107016 Intermediate maple syrup urine disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2163054015 Intermediate branched chain ketoaciduria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

973911000172117 déficit en BCKD intermédiaire fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

986621000172116 maladie du sirop d'érable intermédiaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

872361000172118 intermediaire maple syrup urine disease nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

879711000172111 intermediaire 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
Intermediate maple syrup urine disease (disorder)	Is a	Maple syrup urine disease	true	Inferred relationship	Some
Intermediate maple syrup urine disease (disorder)	Finding site	Body system structure	false	Inferred relationship	Some
Intermediate maple syrup urine disease (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets