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128190004: Inherited metabolic disorder of nervous system (disorder)

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

188 descendants. Search Descendants:

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
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
Renal tubulopathy with encephalopathy and liver failure syndrome (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Aromatic L-amino acid decarboxylase deficiency disorder (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Spastic paraparesis, cataracts, speech delay syndrome (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) Is a True Inherited metabolic disorder of nervous system Inferred relationship Some
Congenital myasthenic syndrome with glycosylation defect due to ALG14 UDP-N-acetylglucosaminyltransferase subunit gene mutation Is a True Inherited metabolic disorder of nervous system Inferred relationship Some

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