128190004: hereditaire stoornis van metabolisme van zenuwstelsel (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

\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system

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

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

206413012 Inherited metabolic disorder of nervous system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

732153013 Inherited metabolic disorder of nervous system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6461401000146110 erfelijke stofwisselingsziekte van zenuwstelsel nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6760941000146116 erfelijke stofwisselingsstoornis van zenuwstelsel nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8050131000146110 erfelijke stoornis van metabolisme van zenuwstelsel nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8617851000146111 hereditaire stoornis van metabolisme van zenuwstelsel (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8672021000146118 hereditaire stoornis van metabolisme van zenuwstelsel nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Inherited metabolic disorder of nervous system	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Inherited metabolic disorder of nervous system	Is a	Inborn error of metabolism	true	Inferred relationship	Some
Inherited metabolic disorder of nervous system	Occurrence	Congenital	true	Inferred relationship	Some	1
Inherited metabolic disorder of nervous system	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	2
Inherited metabolic disorder of nervous system	Is a	Congenital neurological disorder (disorder)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder)	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Glutaryl-CoA dehydrogenase deficiency	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (disorder)	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Male albinism with deafness syndrome	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some

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Reference Sets