791000124107: 2-methyl-3-hydroxybutaanzuuracidurie (aandoening)

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

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

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

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 (disorder)	Is a	Disorder of the central nervous system (disorder)	true	Inferred relationship	Some
2-methyl-3-hydroxybutyric aciduria (disorder)	Is a	Congenital disease (disorder)	false	Inferred relationship	Some
2-methyl-3-hydroxybutyric aciduria (disorder)	Is a	Deficiency of dehydrogenase	true	Inferred relationship	Some
2-methyl-3-hydroxybutyric aciduria (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
2-methyl-3-hydroxybutyric aciduria (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
2-methyl-3-hydroxybutyric aciduria (disorder)	Is a	Disorder of isoleucine metabolism (disorder)	true	Inferred relationship	Some
2-methyl-3-hydroxybutyric aciduria (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	1
2-methyl-3-hydroxybutyric aciduria (disorder)	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	1
2-methyl-3-hydroxybutyric aciduria (disorder)	Is a	X-linked dominant hereditary disease (disorder)	true	Inferred relationship	Some
2-methyl-3-hydroxybutyric aciduria (disorder)	Is a	Chronic nervous system disorder (disorder)	true	Inferred relationship	Some
2-methyl-3-hydroxybutyric aciduria (disorder)	Is a	Chronic metabolic disorder	true	Inferred relationship	Some
2-methyl-3-hydroxybutyric aciduria (disorder)	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	1
2-methyl-3-hydroxybutyric aciduria (disorder)	Finding site	Structure of central nervous system (body structure)	true	Inferred relationship	Some	2
2-methyl-3-hydroxybutyric aciduria (disorder)	Is a	Congenital neurological disorder (disorder)	false	Inferred relationship	Some
2-methyl-3-hydroxybutyric aciduria (disorder)	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
6108331000146117	2-methyl-3-hydroxybutaanzuuracidurie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6108341000146113	2-methyl-3-hydroxybutaanzuuracidurie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6108351000146111	HSD10-ziekte	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6108361000146114	MHBD-deficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6108371000146115	2-methyl-3-hydroxybutyryl-CoA-dehydrogenasedeficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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