128190004: Inherited metabolic disorder of nervous system (disorder)

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 (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system

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

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

206413012 Inherited metabolic disorder of nervous system en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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 Only initial character 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

4787881000241113 maladie métabolique congénitale du système nerveux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4787881000241113 maladie métabolique congénitale du système nerveux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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 (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Inherited metabolic disorder of nervous system	Is a	Inborn error of metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Inherited metabolic disorder of nervous system	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Inherited metabolic disorder of nervous system	Finding site	Nervous system structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

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	Existential restriction modifier (core metadata concept)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder)	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Existential restriction modifier (core metadata concept)
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutaryl-CoA dehydrogenase deficiency	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Existential restriction modifier (core metadata concept)
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare neurometabolic disease characterized by acute, reversible, and sometimes recurrent neurologic deterioration (including drowsiness, hypotonia, dysarthria, and ataxia) during a febrile illness. The condition is associated with reversible leukoencephalopathy and persistently increased urinary excretion (and sometimes cerebrospinal fluid concentration) mainly of alpha-ketoglutarate and N-acetylaspartate.	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Existential restriction modifier (core metadata concept)
Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Existential restriction modifier (core metadata concept)
Renal tubulopathy with encephalopathy and liver failure syndrome	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to impaired synthesis of dopamine, noradrenaline, adrenaline and serotonin. Clinical manifestations are typically characterized by early-onset muscular hypotonia, movement disorders (oculogyric crisis, dystonia), developmental delay, ptosis and non-motor symptoms (sleep disturbance, irritability, excessive sweating, and nasal congestion).	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Existential restriction modifier (core metadata concept)

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This concept is not in any reference sets