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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
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
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 Only initial character case insensitive (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 Only initial character 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 Only initial character 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
3304305017 A rare neurometabolic disorder with features of seizures, progressive encephalopathy and lens dislocation. The prevalence is unknown but is very rare. Symptoms usually occur within the first week after birth with feeding difficulties, vomiting and seizures which are difficult to control. The majority of patients exhibit facial dysmorphism. The course is progressive, with spasticity, severe intellectual deficit, and microcephaly seen in survivors. Lens dislocation usually occurs late in infancy but has been observed as early as two months of age. A late onset form with a milder phenotype has also been described. Caused by a mutation in the SUOX gene (12q13.13). The disease follows an autosomal recessive pattern of inheritance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
3392011001000115 Enzephalopathie durch Sulfitoxidase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
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
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 (disorder) Due to Sulfite oxidase deficiency true Inferred relationship Existential restriction modifier (core metadata concept) 1
Encephalopathy due to sulfite oxidase deficiency (disorder) Is a Disorder of lens (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy due to sulfite oxidase deficiency (disorder) Is a Disorder of brain true Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy due to sulfite oxidase deficiency (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy due to sulfite oxidase deficiency (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy due to sulfite oxidase deficiency (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy due to sulfite oxidase deficiency (disorder) Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Encephalopathy due to sulfite oxidase deficiency (disorder) Associated morphology Dislocation true Inferred relationship Existential restriction modifier (core metadata concept) 3
Encephalopathy due to sulfite oxidase deficiency (disorder) Finding site Structure of lens of eye (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Encephalopathy due to sulfite oxidase deficiency (disorder) Is a Anomaly of eye false Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy due to sulfite oxidase deficiency (disorder) Is a Central nervous system complication true Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy due to sulfite oxidase deficiency (disorder) Is a Luxation of eye (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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