718210003: monoamineoxidase A-deficiëntie (aandoening)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Deficiency of monoamine oxidase A (disorder)

\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Deficiency of monoamine oxidase A (disorder)

\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Deficiency of monoamine oxidase A (disorder)

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Deficiency of monoamine oxidase A (disorder)

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Deficiency of monoamine oxidase A (disorder)
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Deficiency of monoamine oxidase A (disorder)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Deficiency of monoamine oxidase A (disorder)
\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of tyraminase\Deficiency of monoamine oxidase A (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3308700019 Deficiency of monoamine oxidase A (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3310405019 Deficiency of monoamine oxidase A en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3311514018 Monoamine oxidase A deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3311515017 Brunner syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
6123761000146110 monoamineoxidase A-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6123771000146116 monoamineoxidase A-deficiëntie (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6123781000146119 MAO-A-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6123791000146117 syndroom van Brunner nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3311518015 A very rare recessive X-linked biogenic amine metabolism disorder with clinical characteristics of mild intellectual deficit, impulsive aggressiveness, sometimes violent behavior and presenting from childhood. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3311519011 A very rare recessive X-linked biogenic amine metabolism disorder with clinical characteristics of mild intellectual deficit, impulsive aggressiveness, sometimes violent behaviour and presenting from childhood. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of monoamine oxidase A (disorder)	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Deficiency of monoamine oxidase A (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Deficiency of monoamine oxidase A (disorder)	Is a	Deficiency of tyraminase	true	Inferred relationship	Some
Deficiency of monoamine oxidase A (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Deficiency of monoamine oxidase A (disorder)	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	2
Deficiency of monoamine oxidase A (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some

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This concept is not in any reference sets