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715980003: Encephalopathy due to sulfite oxidase deficiency (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5401175012 Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401176013 Encephalopathy due to sulphite oxidase deficiency is a rare neurometabolic disorder characterised by seizures, progressive encephalopathy and lens dislocation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303628018 Encephalopathy due to sulfite oxidase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303629014 Encephalopathy due to sulfite oxidase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304304018 Encephalopathy due to sulphite oxidase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
944841000172114 encéphalopathie par déficit en sulfite oxydase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3392011001000115 Enzephalopathie durch Sulfitoxidase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation. Due to Sulfite oxidase deficiency true Inferred relationship Some 1
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation. Is a Disorder of lens true Inferred relationship Some
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation. Is a Disorder of brain (disorder) true Inferred relationship Some
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation. Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation. Is a Hereditary disorder of nervous system true Inferred relationship Some
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation. Is a Hereditary disorder of the visual system true Inferred relationship Some
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation. Finding site Brain structure true Inferred relationship Some 2
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation. Associated morphology Dislocation true Inferred relationship Some 3
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation. Finding site Lens clear true Inferred relationship Some 3
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation. Is a Anomaly of eye (disorder) false Inferred relationship Some
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation. Is a Central nervous system complication true Inferred relationship Some
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation. Is a Luxation of eye true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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