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\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)\Disorder of amino acid metabolism (disorder)\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:

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	Existential restriction modifier (core metadata concept)
Intermittent maple syrup urine disease (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Intermittent maple syrup urine disease (disorder)	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
2149118017	Intermittent maple syrup urine disease (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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	Only initial character 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	Only initial character 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	Only initial character 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
3448931001000111	Ahornsirup-Krankheit, intermittierende	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
944801000172112	cétoacidurie à chaînes ramifiées intermittente	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
960711000172116	maladie du sirop d'érable intermittente	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
944801000172112	cétoacidurie à chaînes ramifiées intermittente	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
960711000172116	maladie du sirop d'érable intermittente	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3448931001000111	Ahornsirup-Krankheit, intermittierende	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module