715980003: Encephalopathy due to sulfite oxidase deficiency (disorder)

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

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Encephalopathy due to sulfite oxidase deficiency (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Central nervous system complication\Encephalopathy due to sulfite oxidase deficiency (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Encephalopathy due to sulfite oxidase deficiency (disorder)

\Finding of head and neck region\Head finding (finding)\...

\Finding of brain\Disorder of brain (disorder)\Encephalopathy due to sulfite oxidase deficiency (disorder)

\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Luxation of eye (disorder)\Encephalopathy due to sulfite oxidase deficiency (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Encephalopathy due to sulfite oxidase deficiency (disorder)
\Finding of head region\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Encephalopathy due to sulfite oxidase deficiency (disorder)
\Finding of head region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Encephalopathy due to sulfite oxidase deficiency (disorder)
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Luxation of eye (disorder)\Encephalopathy due to sulfite oxidase deficiency (disorder)
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Encephalopathy due to sulfite oxidase deficiency (disorder)

\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Luxation of eye (disorder)\Encephalopathy due to sulfite oxidase deficiency (disorder)
\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Encephalopathy due to sulfite oxidase deficiency (disorder)
\Disorder of head (disorder)\Disorder of brain (disorder)\Encephalopathy due to sulfite oxidase deficiency (disorder)

\Eye / vision finding\Globe finding\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\Encephalopathy due to sulfite oxidase deficiency (disorder)
\Eye / vision finding\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\Encephalopathy due to sulfite oxidase deficiency (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Luxation of eye (disorder)\Encephalopathy due to sulfite oxidase deficiency (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Encephalopathy due to sulfite oxidase deficiency (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Luxation of eye (disorder)\Encephalopathy due to sulfite oxidase deficiency (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Encephalopathy due to sulfite oxidase deficiency (disorder)
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Encephalopathy due to sulfite oxidase deficiency (disorder)

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Luxation of eye (disorder)\Encephalopathy due to sulfite oxidase deficiency (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Encephalopathy due to sulfite oxidase deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Encephalopathy due to sulfite oxidase deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Encephalopathy due to sulfite oxidase deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Encephalopathy due to sulfite oxidase deficiency (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Encephalopathy due to sulfite oxidase deficiency (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Encephalopathy due to sulfite oxidase deficiency (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Luxation of eye (disorder)\Encephalopathy due to sulfite oxidase deficiency (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Encephalopathy due to sulfite oxidase deficiency (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Encephalopathy due to sulfite oxidase deficiency (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Encephalopathy due to sulfite oxidase deficiency (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Central nervous system complication\Encephalopathy due to sulfite oxidase deficiency (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Encephalopathy due to sulfite oxidase deficiency (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Luxation of eye (disorder)\Encephalopathy due to sulfite oxidase deficiency (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\Encephalopathy due to sulfite oxidase deficiency (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\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

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

3852421000052118 encefalopati orsakad av sulfitoxidasbrist 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
Encephalopathy due to sulfite oxidase deficiency (disorder)	Due to	Sulfite oxidase deficiency	true	Inferred relationship	Some	1
Encephalopathy due to sulfite oxidase deficiency (disorder)	Is a	Disorder of lens	true	Inferred relationship	Some
Encephalopathy due to sulfite oxidase deficiency (disorder)	Is a	Disorder of brain (disorder)	true	Inferred relationship	Some
Encephalopathy due to sulfite oxidase deficiency (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Encephalopathy due to sulfite oxidase deficiency (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Encephalopathy due to sulfite oxidase deficiency (disorder)	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Encephalopathy due to sulfite oxidase deficiency (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	2
Encephalopathy due to sulfite oxidase deficiency (disorder)	Associated morphology	Dislocation	true	Inferred relationship	Some	3
Encephalopathy due to sulfite oxidase deficiency (disorder)	Finding site	Lens clear	true	Inferred relationship	Some	3
Encephalopathy due to sulfite oxidase deficiency (disorder)	Is a	Anomaly of eye (disorder)	false	Inferred relationship	Some
Encephalopathy due to sulfite oxidase deficiency (disorder)	Is a	Central nervous system complication	true	Inferred relationship	Some
Encephalopathy due to sulfite oxidase deficiency (disorder)	Is a	Luxation of eye (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

Back to Start

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
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
3852421000052118	encefalopati orsakad av sulfitoxidasbrist	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)