722488009: Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
\Central nervous system finding\Disorder of the central nervous system\Central nervous system complication\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Degenerative brain disorder\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency

\Finding of head and neck region\Head finding\...

\Finding of brain\Disorder of brain\Degenerative brain disorder\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency

\Disorder of head\Disorder of brain\Degenerative brain disorder\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Central nervous system complication\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Degenerative brain disorder\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
\Disease\Disorder of head\Disorder of brain\Degenerative brain disorder\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
\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 valine metabolism\Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3332443017 Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3332444011 Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

3332445012 Methacrylic aciduria en Synonym Active Entire term case insensitive SNOMED CT core module

3332446013 Valine metabolic defect en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency	Due to	Deficiency of 3-hydroxyisobutyryl coenzyme A hydrolase	true	Inferred relationship	Existential restriction modifier	1
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency	Is a	Degenerative brain disorder	true	Inferred relationship	Existential restriction modifier
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency	Is a	Disorder of valine metabolism	true	Inferred relationship	Existential restriction modifier
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency	Associated morphology	Degeneration	false	Inferred relationship	Existential restriction modifier	2
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency	Finding site	Brain tissue structure	true	Inferred relationship	Existential restriction modifier	2
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Existential restriction modifier
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency	Associated morphology	Degenerative abnormality	true	Inferred relationship	Existential restriction modifier	2
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency	Is a	Central nervous system complication	true	Inferred relationship	Existential restriction modifier

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
3332443017	Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3332444011	Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3332445012	Methacrylic aciduria	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3332446013	Valine metabolic defect	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module