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1340040004: Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5372553012 Acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5372554018 Acute reversible leucoencephalopathy due to SLC13A3 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5372555017 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5372556016 Acute reversible leukoencephalopathy due to SLC13A3 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5372557013 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5372558015 Acute reversible leucoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5372559011 Acute reversible leucoencephalopathy with increased urinary alpha-ketoglutarate en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5372560018 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5372561019 A rare neurometabolic disease characterised by acute, reversible, and sometimes recurrent neurologic deterioration (including drowsiness, hypotonia, dysarthria, and ataxia) during a febrile illness. The condition is associated with reversible leucoencephalopathy and persistently increased urinary excretion (and sometimes cerebrospinal fluid concentration) mainly of alpha-ketoglutarate and N-acetylaspartate. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (disorder) Is a Acute metabolic disorder true Inferred relationship Some
Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (disorder) Is a Acute nervous system disorder true Inferred relationship Some
Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (disorder) Is a Inherited metabolic disorder of nervous system true Inferred relationship Some
Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (disorder) Is a Leukoencephalopathy true Inferred relationship Some
Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (disorder) Is a Measurement finding above reference range true Inferred relationship Some
Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (disorder) Is a Finding of substance level (finding) true Inferred relationship Some
Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (disorder) Occurrence Congenital true Inferred relationship Some 2
Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (disorder) Finding site Cerebral white matter structure true Inferred relationship Some 4
Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (disorder) Interprets alpha-Ketoglutarate measurement true Inferred relationship Some 1
Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (disorder) Has interpretation Above reference range true Inferred relationship Some 1
Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (disorder) Clinical course Sudden onset AND/OR short duration (qualifier value) true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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