791000124107: 2-methyl-3-hydroxybutyric aciduria (disorder)

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

\Central nervous system finding\Disorder of the central nervous system (disorder)\2-methyl-3-hydroxybutyric aciduria

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\2-methyl-3-hydroxybutyric aciduria
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked dominant hereditary disease (disorder)\2-methyl-3-hydroxybutyric aciduria
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\2-methyl-3-hydroxybutyric aciduria
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\2-methyl-3-hydroxybutyric aciduria
\Disease\Disorder of body system\Disease of nervous system (disorder)\Chronic nervous system disorder (disorder)\2-methyl-3-hydroxybutyric aciduria
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\2-methyl-3-hydroxybutyric aciduria
\Disease\Metabolic disease\Chronic metabolic disorder\2-methyl-3-hydroxybutyric aciduria
\Disease\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\Disorder of isoleucine metabolism (disorder)\2-methyl-3-hydroxybutyric aciduria
\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of dehydrogenase\2-methyl-3-hydroxybutyric aciduria
\Disease\Chronic disease\Chronic metabolic disorder\2-methyl-3-hydroxybutyric aciduria
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\2-methyl-3-hydroxybutyric aciduria

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2018. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
2-methyl-3-hydroxybutyric aciduria	Is a	Disorder of the central nervous system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
2-methyl-3-hydroxybutyric aciduria	Is a	Congenital disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
2-methyl-3-hydroxybutyric aciduria	Is a	Deficiency of dehydrogenase	true	Inferred relationship	Existential restriction modifier (core metadata concept)
2-methyl-3-hydroxybutyric aciduria	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
2-methyl-3-hydroxybutyric aciduria	Is a	Hereditary disorder of nervous system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
2-methyl-3-hydroxybutyric aciduria	Is a	Disorder of isoleucine metabolism (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
2-methyl-3-hydroxybutyric aciduria	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
2-methyl-3-hydroxybutyric aciduria	Finding site	Structure of central nervous system	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
2-methyl-3-hydroxybutyric aciduria	Is a	X-linked dominant hereditary disease (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
2-methyl-3-hydroxybutyric aciduria	Is a	Chronic nervous system disorder (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
2-methyl-3-hydroxybutyric aciduria	Is a	Chronic metabolic disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
2-methyl-3-hydroxybutyric aciduria	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
2-methyl-3-hydroxybutyric aciduria	Finding site	Structure of central nervous system	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

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
3516733016	2-methyl-3-hydroxybutyric aciduria (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3516734010	2-methyl-3-hydroxybutyric aciduria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3516735011	HSD10 disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3516736012	A rare life-threatening neurometabolic disease with characteristics of a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3516733016	2-methyl-3-hydroxybutyric aciduria (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3516734010	2-methyl-3-hydroxybutyric aciduria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3516735011	HSD10 disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3516736012	A rare life-threatening neurometabolic disease with characteristics of a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3416601001000115	HSD10-Krankheit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3416601001000115	HSD10-Krankheit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module