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128190004: Inherited metabolic disorder of nervous system (disorder)

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

\Genetic disease\Hereditary disease\...

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

\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\Inborn error of metabolism\Inherited metabolic disorder of nervous system

\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. 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
2471991000052118 ärftlig ämnesomsättningssjukdom i nervsystemet sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden 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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Acute neuronopathic Gaucher's disease	Is a	False	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Arginase deficiency	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Sialidosis	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Globoid cell leukodystrophy, late-onset	Is a	False	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Neuronal ceroid lipofuscinosis	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Gangliosidosis	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Niemann-Pick disease, type A (disorder)	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Subacute neuronopathic Gaucher's disease	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Pelizaeus-Merzbacher disease (disorder)	Is a	False	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Deficiency of cerebroside-sulfatase	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Alexander's disease	Is a	False	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Niemann-Pick disease, type C, acute form	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Pyruvate carboxylase deficiency	Is a	False	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Deficiency of monoamine oxidase A (disorder)	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Encephalopathy due to prosaposin deficiency (disorder)	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Ganglioside GM3 synthase deficiency (disorder)	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Thiamine-responsive encephalopathy (disorder)	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Mucolipidosis type IV (disorder)	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Deficiency of alpha-ketoglutarate dehydrogenase (disorder)	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder)	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Contiguous ABCD1 DXS1357E deletion syndrome (disorder)	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Congenital cataract, hearing loss, severe developmental delay syndrome (disorder)	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Lipoic acid synthetase deficiency (disorder)	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Congenital muscular dystrophy with cerebellar involvement	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Congenital muscular dystrophy with intellectual disability	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Combined oxidative phosphorylation defect type 11	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Navajo neurohepatopathy	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Combined oxidative phosphorylation defect type 30	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Combined oxidative phosphorylation defect type 29	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Combined oxidative phosphorylation defect type 27	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Combined oxidative phosphorylation defect type 25 (disorder)	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Combined oxidative phosphorylation defect type 23	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some
Seizures, scoliosis, macrocephaly syndrome (disorder)	Is a	True	Inherited metabolic disorder of nervous system	Inferred relationship	Some

Reference Sets

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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
2471991000052118	ärftlig ämnesomsättningssjukdom i nervsystemet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)